Bobbi was born 11th March 2004 weighing just 3lb 1oz, at 37 weeks gestation. After spending five weeks in Special Care, we took her home weighing a whopping 4lb 6oz, and feeding via an NG tube. When the NG tube was removed a month later, we then struggled endlessly to get her to take milk from a bottle. In the early days she would have up to ten bottles in 24hrs, sometimes barely taking an ounce at a time. She was diagnosed at six months of age - by a geneticist - with RSS. We had our suspicions after researching her symptoms on the Internet, so it was a relief to finally have the answer as to why she didn’t want to feed, and her failure to thrive!
We saw Dr. Stanhope at GOSH for the first time in July 2005; Bobbi was fifteen months old and weighed around 13lb (it was a particularly bad time in terms of her feeding and reflux, constipation etc.) It was suggested at this appointment that Bobbi would probably benefit from a G tube placement and it was arranged for her to be admitted for various blood tests; to check blood sugar, GH levels, amongst others. Although the tests were very daunting, we finally felt like we were getting the best help we could for our daughter, having previously been faced with so many doctors who had very little, or no knowledge of RSS.
Thankfully from about eighteen months of age Bobbi started to pick up a little, and managed to gain some weight/height, so the need for a G tube was narrowly escaped. Also, around this time we attended our very first CGF convention; this was a wonderful experience; fun, informative and sent us home more able to cope with the everyday challenges of RSS. We are looking forward to our 3rd Convention in October; it will become more important for Bobbi as she gets older to meet other children just like her.
Bobbi is now three years, 3 months old, 29.5lb and 88cm. She started pre-school at Easter, which she loves and is doing well. We are yet to overcome Bobbi’s feeding problems (being able to chew, and eat age-appropriate foods). But all in all she has done really well and overcome a lot so far; we look forward to her making more progress in the future…
Conor was almost one year old and had been in hospital for a month being tube fed. While there, it was suggested a geneticist come in to see him as his physical presentation displayed “soft signs”. A lady came into the room and said she was from the genetics department. Then she took one look at Conor and said, “Oh yes, definitely.” I asked what she meant and she said, “He definitely has a syndrome but I will get the geneticist to come and talk to you.” She left me sitting in the room looking at Conor and feeling terrified!
And so, we were introduced to Russell Silver Syndrome.
Conor’s birth weight was fine at 6lb 6oz, but from day one he had to be dragged from his sleep to take an ounce of milk. While a sleeping baby is a great thing, especially when he’s not your only child, a constantly sleeping baby just is not normal. At five weeks old he was admitted to hospital with pneumonia, and the paediatrician informed us he had pectus excavatum (inverted chest bone). She said she was concerned about his subcutaneous fat and gave us some feeding advice.
He continued to struggle and I noticed he seemed to be in serious discomfort after every feed. Then he began to break out in an angry rash after each feed. After some blood tests he was diagnosed as dairy allergic and transferred to Numtramigen and Duocal to help boost his calories. At five months he was back in hospital with another bout of pneumonia. It was at this stage that the paediatrician began to take serious interest in his weight, or lack thereof. The dreaded weekly weight checks began but try as I might; I could not get his weight up.
And so, at 11 months old and weighing 6kg, the paediatrician decided to admit him for some aggressive feeding. A nasal gastric tube was inserted but every time he was fed through this he threw it up. And, frustratingly, his weight began to go down! Up to now he had been attending physio, as his physical strength wasn’t good and he wasn’t meeting his milestones. Otherwise, he appeared bright and happy. He was transferred to a specialist paediatric hospital where they took a different approach to the NG feeding and it had an immediate effect on his weight. However, it was not a permanent solution, and once he reached 7kg, it was removed. It was also here they took some DNA and sent various blood samples abroad in the hope of a positive RSS diagnosis. All the results were normal and so he was given a clinical diagnosis.
Today, at age 3, he weighs 9.9kg and is 85cm in height. His left leg is shorter and thinner than his right and he has a muscular problem in his left eye. He was recently diagnosed with asthma which is related to the allergies and eczema so it was only a matter of time before that would rear its ugly head. Despite all of this, he is like the bunny from the ad. Not wanting to mention any brand names, but you know the one? He just keeps going and going. Meal times and bed times are a constant battle of wills and for a baby that always slept he no longer seems to need it!
Tom was born at 37 weeks gestation, weighing 3lb 10oz, and it was completely unexpected for him to be so small. He spent several days in SCBU and a few weeks in hospital. He was awful to feed; his weight gain slow and our parental anxiety huge!
After a “choking episode” at three months, we found Tom almost unconscious in his cot when he was eight months old. At twelve months old, he weighed 12lbs, and at 14 months, he was diagnosed as RSS and started growth hormone. He had numerous hypoglycaemic episodes and we debated many times whether to tube feed him, but decided not to. Feeding continued to be extremely stressful and without Dr Jackie Blisset’s help, I am sure we would all have gone mad! The story must sound familiar to you all?
I can remember thinking and worrying so much about the future. I thought it might be helpful as the mother of an older boy to share with you his progress now. Tom is now fourteen years old. He has just about stopped growing and is now 5ft 1inch tall. I mourn his lack of height, wishing he were taller, wondering if only he had been a girl perhaps it wouldn’t matter quite so much, and I still worry, as all mums do, about the future.
And Tom? He has the most amazing self-confidence. He has what seems to be a characteristic of RSS, a fabulous sunny, optimistic outlook on life. He is doing well at school, a keen karate member and talented musician. He is now at high school and appears unconcerned about his height. He socialises well, particularly with the older students. He is very active in the local drama groups, having played the part of Jesus in Godspell, and currently is starring in Oliver.
The other amazing thing is food! Tom now has a definite interest in food. He has a healthy appetite and this has expanded over the years. We pinch ourselves and remind each other how long it took him to eat a few spoonfuls of puree when he tucks into a huge roast dinner on Sunday.
Of course, I still fret about what may happen due to his lack of height. How will he cope as he gets older, how will he get a suit, what about men’s clothes (he currently wears aged 12)? However, if I could have seen how he is now when he was fourteen months old, I would have been very relieved. I guess this is the purpose of this article.
There have been many challenges over the years. I hope I give reassurance and encouragement to those of you who have just had a child diagnosed with RSS. You are just at the beginning of the journey as parents. The path is rocky. There will be challenges, but there are also people out there to help.
Thomas’s second teeth were erupting at an alarming rate and were very big. Due to their positioning he was referred to the Dental Hospital. I was daunted at the prospect, as usual about having to explain his medical condition, and especially his hypersensitive mouth. He was very apprehensive as he had had a bad experience with one of our own dentists, who had tried to force Thomas to have impressions taken. Thomas gagged, panicked and was very distressed by the whole incident.
We arrived at the hospital and it was a pleasant surprise; the dentist was very gentle and spent time with Thomas and was able to look in his mouth. After the initial assessment she felt a removable appliance would be the most suitable solution. HELP! How do you get a child with a very sensitive mouth and the associated feeding difficulties to accept this treatment?? Well, we played with the stuff used to make the impressions and eventually he allowed her with much encouragement to make the mould. We returned a few weeks later for the brace to be fitted. Thomas found this to be very uncomfortable and would only allow the brace to stay in his mouth for a matter of seconds. It clipped onto his top teeth; he gagged, salivated and spat it out! She suggested we took it home and tried to wear it “as much as possible”. It seemed almost impossible and I admit that I really didn’t think we would get anywhere.
Initially, we started by sitting in front of the TV and trying to distract him. He would only manage a few minutes and could not swallow, drooling the whole time, desperate to take it out. We talked about how nice it would be to have straight teeth, and Thomas wanted to have nice teeth. Any time he managed we praised him and told him how clever he was. We told him how lucky he was to be the first boy in his class to wear a brace. You name it we tried it, anything to encourage him!
One night we talked about him wearing it whilst he was asleep. Wouldn’t it be good if he wore it at night and woke up in the morning, just think how clever he would be? After a lot of persuasion I managed to get him to put it in and I sat with him until he eventually fell asleep. I couldn’t believe it! I even saw him swallow in his sleep. This was progress! He woke in the night and took it out, but in the morning we made a big fuss and really, that was the start of the success.
Gradually he wore it longer and longer until he just took it out at meal times. Within 6-8 weeks his teeth were corrected to a much better position. The dentist was very pleased and she didn’t want to see him for twelve months. Thomas was delighted to have straight teeth. And us? Well, I can’t tell you how proud we are. It was hard work and many times we thought it wouldn’t work and yet we did it together. Not bad when you think he is only seven and the associated problems of RSS. He will need more treatment in the future but now we all feel that this will be possible.
I've been a member for about eight years. Thomas is now ten and is on growth hormone.
When we were wading through all the possible diagnoses, with very little (if any) help or support (sound familiar?), I contacted the CGF in desperation, regarding feeding. I rang to ask if it was just me, or were there other parents finding RSS children difficult to feed?
It was amazing how much better we felt when we found out so much about feeding difficulties. We were involved in Jackie Blisset’s research and she offered us so much support over the phone. We sent videos down on a regular basis, talked at length about NG tube and then gastrostomy feeding (Thomas has severe hypos). We spent many nights in hospital due to hypos and other illnesses causing hypoglycaemia, and thought it would never end.
Now Thomas is ten! He escaped any supplementary feeding and I'm so glad now. At about six years he suddenly seemed to be more interested in food. Since then he has taken off! He eats 'normal' food like pizza, pasta, vegetables, fruit, rice; the list is now endless... it is still wonderful to hear him say, 'Can I try that mum?' He is still petite but now blends in much better (25 centile). I remember he was 12lb at 12 months - unrecordable on the centile.
I hope that telling you a bit about Thomas it is helpful, as we always wanted to know what would happen as he got older, and now here we are.
We still have to watch when he's ill and check his blood sugars - and worry!
He changed school in September, and now goes to middle school. The first time he walked to school I was worried to death. What happens if he is bullied? What if they eat his special packed lunch? I felt sure he would use too much energy walking and be too tired at school.
And? He seems to have settled well. We do give him a lift a fair bit because it does wear him out walking. He takes a packed lunch most of the time, the school allows him a secret supply of biscuits he helps himself to as and when, and when I'm feeling brave he has a school dinner!
I can remember wondering as I struggled to feed Thomas as a baby what life would be like when he was older. I find it hard to believe that he is now 11. There was a portion of me that would have liked to have seen into the future, and yet it was a scary thought! Thomas seemed to spend a fair amount of time in and out of hospital with “hypos” between the ages of eight months and five years. We debated many times whether to have a peg put in to feed him through overnight, and yet resisted it. I’m glad we avoided it.
Thomas has grown brilliantly (9th centile height and weight), although he's still petite compared to his peers. He shows much more interest in food, and is definitely much quicker at eating it. Now there are different worries as he wants more independence. He wants to go away on school trips, ride his bike to school with his pals, defend himself from bullies. He had his first proper “hypo” in three years a couple of weeks ago, which knocked our confidence and was disappointing, but keeps us on our toes!
Problems in the pregnancy began at 17 weeks, following an amniocentesis test. The amniocentesis didn’t go according to plan and a couple of hours later I was back in hospital, because it seemed that the membranes had ruptured. The doctors were very pessimistic and I was put on bed rest for a few days and monitored closely. Following numerous checks and scans I was discharged from hospital after two weeks and told to take it easy for the rest of the pregnancy.
From then on I had to attend the antenatal clinic three times each week. I was monitored each time and had to have blood taken, and various other tests. I also had ultrasound scans each week from around 22 weeks. It was at about this time that they discovered that Georgia wasn’t growing as well as she should have been.
At 28 weeks and following another scan and monitoring, it was decided the baby was not doing at all well. The consultant though, really wanted the pregnancy to continue for as long as possible on the basis that the baby would be better off in the womb than in an incubator. This continued for another 8 weeks, by which time the doctors decided hopefully now the baby would be strong enough to enter the world. They estimated at this stage that Georgia was about 2kg. She was also breech so they decided a caesarean section would be advisable.
Georgia was born at 36½ weeks gestation on the 10th September 1997, weighing just 1.71 kg (3lb 12oz). She was immediately whisked off to the Special Care Baby Unit (SCBU). The first few days were very difficult. Georgia was breathing with the aid of oxygen and when I first went to see her she was so tiny and covered with all sorts of tubes. I was allowed to hold her for the first time after about 24 hours.
Georgia was a bit of a puzzle to the medical staff because they couldn’t understand why she was so small. They were convinced that she was only around 32 weeks but we knew this wasn’t the case. After a few days she was breathing unaided, but she was very reluctant to feed. This continued to be a problem for some time, and was the only thing after a couple of weeks that was really keeping her in SCBU.
We tried everything to get her to feed, but she was taking very little orally. Finally though, after three weeks and six days, she was discharged.
The feeding problems continued at home and Georgia was very reluctant to feed. It took us over an hour to get her to have about 20ml and by the time she had finished it was almost time for the next feed! During those first few days we tried so many different teats but she just wasn’t interested. She never woke in the night for her feeds so we had to set the alarm clock so that we could wake her up.
After eight days at home the midwife was not happy with her lack of appetite, and she was also losing weight. She was readmitted to hospital overnight for observation. During this time the hospital staff apparently had no problems feeding her so she was discharged the following day with the disposable teats that they were using. We had found that Georgia did go through periods of feeding reasonably well, which was obviously what had happened in hospital.
At home we were back in the same situation; she still took hours to feed; she just had no interest at all. We struggled along for another week or so and then Georgia became ill with a cold so the feeding was even more difficult. After a couple of days we took her to the doctor's because we were worried about her breathing. He checked her over and didn’t feel it would be too much of a problem, but he was quite concerned about her feeding difficulties.
During the night her condition deteriorated and she seemed to be having a lot of difficulty breathing. The following day Georgia was readmitted to hospital with suspected bronchiolitis. It seemed to take forever for the hospital to sort her out. They gave Georgia numerous tests, including a lumbar puncture because it was suspected she may have had meningitis. At about 2am, after hours of waiting, she was diagnosed with Respiratory Syncytial Virus (RSV). The probability was that she had caught this virus when she was in hospital overnight because of weight loss and feeding difficulties.
The next few days were a very difficult time for us all. Georgia was back in an incubator, on oxygen and being sustained intravenously. She had one to one nursing care, and at one point she was prepared to be transferred to ITU at the Birmingham Children’s Hospital
One doctor was very concerned about her condition; she asked, ‘Why is this child so emaciated?’ It was during this stay in hospital that ‘IUGR’ was referred to. I had heard this mentioned a couple of times, and was informed by a nurse that the letters stood for Intrauterine Growth Retardation. At this stage we didn’t realise how much this was going to be part of our lives.
After a few days Georgia’s condition began to improve slightly so she was taken off the oxygen. She also had a Nasal Gastric feeding tube placed to help her because she was too weak to feed normally (this is a tube that runs from her nose to her tummy).Georgia had the tube for a few weeks, when it was removed once again she would not feed. After a few days it was suggested that Georgia was well enough to go home.
Although we were desperate for her to come home, we were very concerned that nobody was really taking us seriously. We asked if Georgia could stay in until the next day to see if she would gain any weight. Georgia stayed in hospital and was weighed the next day; yet again she had lost weight. They decided to keep her in a little longer.
Georgia had lots more tests in an attempt to find out a reason for her size and lack of appetite. This included a ‘sweat test’ to rule out Cystic Fibrosis. Finally, after 3½ weeks in hospital, although her feeding remained a problem, she came home under the care of the community paediatric nurse. The nurse would come to visit us at home on a regular basis and monitor Georgia’s weight and feeding. We were still no closer to finding out why she was the way she was.
At home the problems continued, and after one week Georgia continued to lose weight. It was decided to place a Nasal Gastric tube on a long term basis. Although whilst in hospital we were so desperate for her to feed normally, we were now resigned to the fact that she needed extra help. We were relieved because it took a lot of pressure off us and we hoped that this would help Georgia ‘thrive’.
We plodded along for the next couple of months; Georgia had another couple of admissions to hospital with coughs, colds etc. She nearly spent her first Christmas in hospital. Fortunately, she was discharged on Christmas Eve.
By early February we had had enough. Georgia was now totally tube fed and although she was gaining weight it was very slow and she would often vomit after the whole feed. She had now been labelled ‘failure to thrive'. Her development was also much delayed. She wasn’t reaching any of her milestones; for example she didn’t smile until she was about four months old.
She was seen by the paediatrician at our local hospital every couple of weeks, but we felt that we were not getting anywhere. He kept saying, ‘She will catch up eventually.’ We didn’t agree, and felt Georgia was not receiving the specialist investigation and care she deserved. In desperation we took her to the A&E department at the Birmingham Children’s Hospital. She was admitted immediately for tests.
Georgia was seen by many specialists, including a neurologist who painted a very bleak picture. He didn’t think she would ever walk or talk, and would be significantly retarded in many ways. She was also seen by a geneticist who at this time didn’t make any diagnosis but said that he would see her again in a few months.
Unfortunately, within a few days Georgia became infected with Rota virus (a very severe gastroenteritis). She was extremely ill for a few days and lost over ½ kg in weight in just 24 hours. Luckily once the virus was out of her system she managed to regain the lost weight.
To our dismay after about three days she came down with pneumonia. This of course knocked us back even further. She stayed in hospital for about two weeks and we were very happy to take her home (even though we were still no closer to a diagnosis), just in case she became infected with something else. But at least we now felt that she was under specialist care, being a patient of the Birmingham Children’s hospital.
We tried to carry on with a normal life, although this was generally quite difficult. Georgia continued to get many infections and the vomiting also remained a big problem. Most mornings she would vomit, usually when I was about to take her sisters, Jessica (6) and Chloe (2), to school.
On Georgia’s first birthday she weighed 4.9Kg (10lb 11oz) and she was 63cm in length. When Georgia was 14 months old she was once again admitted to the Birmingham Children’s Hospital for more tests. It was during this stay in hospital that she was visited again by the geneticist. He told us that when he saw Georgia previously he suspected that she may have Russell Silver Syndrome but at the time Georgia didn’t display enough of the characteristics of this condition, so was reluctant to give a firm diagnosis. Now he was very sure that she had got RSS.
We were relieved, although we were very concerned that she had this condition, at least we now knew the reason why she was so small and had no appetite. We also had the hope that she would improve over the years. We could now give Georgia the help and support that she needed.
Every time we went to the doctors or for a hospital visit we would go armed with the booklet from the Child Growth Foundation. We learned so much about the condition over those first few months and it was wonderful to talk to other parents who were going through the same situation or had come through the other end.
Georgia continued to gain weight very slowly and she continued to be very reluctant to take anything orally.
One of the problems with Russell Silver Syndrome can be hypoglycaemia; we learned about this the hard way. One morning we tried to wake Georgia but she was very lethargic and reluctant to wake up. At first we thought she was just tired but it became apparent that her feeding tube had somehow become dislodged during the night. We didn’t know when this had happened so were unsure how long she had gone without any nutrition.
We didn’t know what to do, so we first of all tried to get hold of Georgia’s nurse, without success. We then tried her consultant and again this was unsuccessful. Eventually his secretary managed to track him down and instructed us to call 999 immediately. The whole thing was a bit of a daze really and I didn’t know what I was doing. It really was a nightmare and the worst of it was that it was totally out of my control.
By the time the ambulance arrived, Georgia was also fitting and making some awful noises. The paramedics thankfully took control and she was rushed straight to A&E. Her consultant met us there and we knew she was in safe hands. It turned out that Georgia had become hypoglycaemic and had gone into a hypoglycaemic coma. Her blood-sugar levels were so low they were measuring zero. She was administered the necessary medication and showed a little improvement. She was admitted to the ward some time later but it took about 24 hours for her to come around.
Upon being discharged from hospital three days later and we were given equipment to check her blood sugar levels in case of a similar problem. Thankfully, this has not happened since, although we are always aware, just in case.
When Georgia was 2½ she was fitted with a gastrostomy (a feeding tube directly into her stomach through a hole in her abdomen).
At about the same time she started at a nursery for physically disabled children - at this stage Georgia was still not walking. Our aim and hope was for Georgia to attend the Special School, to help her development, with the objective of her progressing to the local mainstream school. It was probably at about this time that we felt we could, ‘See the wood through the trees.’
Georgia seemed to be much healthier and not so ‘delicate’. She started to walk at three years and nearly three months old. We were all so proud of her, and she took the lead role as a ‘star’ in the school’s Nativity, where she took a few furtive steps.
Her talking was still a big problem though, and although she had regular speech therapy, we could see no real improvement. At 3½ years old Georgia began growth hormone therapy. At this time she still only weighed just over 8kgs and her height was 78cms. Within a couple of months she had grown considerably and her appetite had increased. Georgia seemed a different ‘little’ girl.
After six months on growth hormone she was 85cms. That really was probably the turning point for Georgia. She became much more physically able and her speech was coming along slowly. Our hopes were realised when Georgia started mainstream school in the reception class with 20 hours support from a teaching assistant to help with her educational and medical needs.
Georgia has continued to progress really well, at the age of seven years and two months she weighs just a little less than 20kg and is 115cm tall. Her growth has been quite dramatic and currently she is having a break from growth hormone, we will see what the impact of that is. She came off growth hormone eight months ago, and so far although her growth rate has dropped back a little she is still growing. Georgia is also doing very well in school and works incredibly hard. She is very popular at school and has lots of friends. She has just been chosen to learn to play the cello, this is quite an achievement because only four children out of a total of 90 get the chance. She loves dancing, horse riding and swimming. Seven years ago we would never have dreamed that Georgia would have achieved so much. She tries so hard and we are all so proud of her. Georgia is an absolute delight and we wouldn’t want her any other way.
It doesn’t seem possible that Georgia had her 10th birthday in September, and we are now well and truly looking ahead to to starting secondary school.
It is constantly on our mind at the moment; we are gathering a huge amount of information, visiting schools and having meetings. Hopefully we will make the best choice for Georgia. It is a very scary prospect and at the moment we are looking at all of the possibilities, and many education professionals are giving their varying opinions. In the end though, the decision is ours. Unfortunately, the choices are not great!
For some time now Georgia’s main problems are around her speech and language difficulties, which have a huge impact on her literacy skills. We feel that a mainstream secondary with over 1000 pupils would not be able to succeed in giving her a good standard of education. In a smaller school with fewer teachers/pupils she wouldn’t be ‘lost in the crowd’ and teachers would see enough of her to be able to tune in to her speech difficulties. In a large school, she would probably have 15 plus teachers each week and they would never get the chance to 'hear’ what she has to say.
Small secondary schools are now very rare, and with the exception of independent schools there are none within a reasonable distance to us. We have approached the independent schools but even if we pay they do not want to take Georgia on and have advised us to stay within the provision of the LEA.
This is a real concern to us at the moment and even the Educational Psychologist doesn’t know the answer. She doesn’t know of any school that would suit Georgia. Special schools are generally now for the very severely affected children and there are certainly no speech and language special schools in our area. A decision has to be made by July of this year, so we haven’t really got that long. Hopefully we will have an outcome that we are happy with before too long. I will keep you posted!
The other big news is that Georgia is back on growth hormone. As some of you are probably aware Georgia originally began growth hormone therapy when she was 3½ years old. She did extremely well, so after just over three years we decided to take her off and give her a break to see how she got on. Well, she did really well initially and continued to grow at a reasonable rate. This could well have been due to the early onset of puberty.
Georgia began showing signs of puberty just after her 7th birthday so she has been on medication to suppress puberty since then. We thought though, that her growth had started to slow down around two years ago. When we went for her six-monthly check-up in November our suspicions were confirmed, because she had grown less than 2cms in 12 months! We left the decision to Georgia but she decided she would like to ‘be bigger’ so she started back on nightly injections in December.
I have to say she is absolutely amazing with them, and very funny. She does it all herself and when she presses the button to inject, she screws her face up and says, ‘Aagh! It kills, it kills!’ Then she looks up at us and says, ‘Not really,’ and smiles! Her next appointment is in May, so hopefully by then we will see a difference.
Georgia is also waiting for two other referrals to Birmingham Children’s hospital. She has decided that she would like to have an operation on her ears to ‘pin them back’. She is starting to get a little self-conscious about them, so we think now is probably the time - before she starts to worry about it too much.
We are also waiting for a referral to the Orthodontist. At Georgia’s last dental check-up her dentist decided it was time to get more professional help, because due to her small lower jaw, her top teeth overlap her bottom teeth by 7mm.
My son Max was born at 39 weeks weighing 4lbs 11oz. The doctors thought he was just small for his age and would soon show signs of “catch-up”. During the next few days Max lost weight rather than gaining it. He went down to 4lbs 3oz, so they transferred us to SCBU. We stayed there for a further seven days, until Max had gained most of the weight he had lost - and then we went home under the care of my health visitor and monthly check-ups at the hospital.
Max continued to feed poorly and I was soon referred to a dietician who prescribed Duocal to add to Max’s milk feeds, and shortly after recommended Paediasure Plus, a high calorie milk. This helped, but Max’s weight still remained below the 4th centile in my “little red book”. I became very worried about his poor weight gain and wondered if it was something I was doing wrong. I must have tried every feeding bottle and teat on the market to see if this was the problem.
At around seven months old the paediatrician Max was under at our local hospital suggested doing some blood tests. When the results came back Max had tested positive for Russell Silver Syndrome.
Over the next few months Max continued to gain weight slowly, but he was gaining and was learning to chew certain types of food. I became quite disillusioned with the support I was receiving from the hospital. I never saw the same doctor twice and always had to repeat old history again and again.
One doctor suggested a Nasal Gastric tube, which I decided against, as I felt it would be a backward step for Max as he was doing quite well chewing and swallowing. Soon after this I heard about the Child Growth Foundation, who gave me some good advice and through them discovered Dr Richard Stanhope, whom I made an appointment to see. Max’s weight at this time was still below the 4th centile, as was his height.
Dr Stanhope was the first person I had seen who was understanding and positive about Max’s progress. He advised me to continue as I was with the feeding, and recommended starting growth hormone therapy when Max was around two years old.
During this time I took Max to several toddler groups, and it never ceased to amaze me that complete strangers would comment on how small Max was. I would never dream of saying to a complete stranger that her child was fat! Although he was considerably smaller than the other kids, he had heaps of energy and never let his size stop him climbing anything the other boys were. It was me who stood there gasping for breath as he charged around with the other children.
At the age of two years and one month, Max started growth hormone therapy. He is now three and half years old and is around the 9th centile for his height. He seems to be growing out of his clothes and shoes at a much faster rate than I have been used to, which is fantastic. Meal times are still a battle as Max would much prefer to eat chocolate buttons for breakfast, lunch and dinner! I am so proud of my beautiful little boy as he has to endure so much more than other children - all he asks is that mummy gives little injections so they won’t hurt him as much. He attends a nursery school now three mornings a week, and has made a lot of friends. The girls fuss around him a little too much for his liking but in time I’m sure he won’t mind!
My name is Helen; I am 15 years old and I was born with Russell Silver Syndrome.
Growing up with Russell Silver syndrome has been hard, but I am getting used to it.
I can remember when I was about five or six years old, and I was too scared to do my injections so my dad used to do it. I would lie down and he would put the needle in the back of my leg.
And he would count: one Pudsey bear, two Pudsey bear, and so on till it got to number five.
Sometimes when I was older and I had to do it myself, the needle would hit a nerve and blood would go everywhere and I would cry my eyes out, as it really hurt.
I do not need to do the injections any more as I have stopped growing completely; I am about 4ft 10 (not that tall).
As you can imagine all the boys that I bring back home to meet my mum are all 6ft something so it’s like, 'What?!'
I have found in school I have a very hard time understanding maths. I am in bottom set for maths but I am getting there - it was only about two years ago that I learnt how to tell the time and even now I can still get mixed up!!!
At that time I did not really understand what was going on, and there was no point in my parents trying as I would just not listen.
School was a problem as I used to get bullied for being small, but I don’t let that affect me anymore.
I sometimes get a low sugar level and I need to eat something quick - my dad calls them the floppies.
Going shopping can sometimes be a problem as I am only a size two for shoe size. And I have really big hips so getting trousers to fit is a nightmare!!!
I do think the growth hormone has helped a lot, but I still wish that I was a little bit taller, and that my feet were bigger.
At the moment I am studying for my exams in the Summer. When I leave school I have got a place in Moulton College - if I get in then I will be studying animal care.
All of my friends are really supportive, and although they are a lot taller than me they do not let this affect our friendship, and one of my friends is about the same height as me so it’s all good!!!
I already have my dress for the prom which is on the last ever day of school.
When we first found out I was pregnant, Dan & I were really excited and everything seemed to be going well until, at the twenty week anomaly scan, the sonographer noticed that the baby wasn’t growing as well as she should have been (not that we knew it was a '‘she'’ then, but it seems wrong to write ‘it’ about Emily!). Her growth within the womb was being restricted – but the consultants didn’t know why. On their recommendation, we had an amniocentesis to rule out more serious conditions, which thankfully proved negative. We were monitored with serial growth scans and blood-flow measurements, however – despite the obvious Intrauterine Growth Retardation – the consultants could not detect any real problems. Eventually, at 34 weeks the baby’s growth flattened out completely so it was decided that she should be delivered early. Hence, Emily was born by elective c-section at 34.5 weeks weighing 3Ibs 3oz.
Emily was born with severe IUGR (Intrauterine Growth Retardation) and SGA (Small for her Gestational Age), meaning that she was smaller than other babies would be expected to be at 34.5 weeks, especially given that both Dan and I are fairly tall and had ourselves been good-sized babies. Due to a combination of characteristics including: the incurved little fingers; partially joined toes; high forehead; small jaw, ‘pixie-like’ features; and after failing to display any catch-up growth after six months of age, Emily was eventually clinically diagnosed as having Russell Silver syndrome.
Since her birth, Emily suffered from poor appetite – a common occurrence in RSS children. Aside from being NG tube fed for the first five weeks however, we have managed without a feeding tube. I think this was due mainly to the fact that Emily would drink Infatrini milk (then moved onto Nutrini) from a bottle, and even though it was often in pitifully small amounts and would take forever, she did continue to put on weight, albeit incredibly slowly. During her first 18 months Emily also suffered badly from reflux and would often vomit after each bottle. Interestingly, she had two pH probe tests which came back negative, yet when she was treated with reflux medication, the gagging and vomiting would improve.
As Emily grew older, we worked closely with a dietician to try and get as many high calorie foods into Emily as possible, including hi-calorie milk and supplements. At the age of two, Emily weighed 17lbs and was 76cm tall. She was still drinking 6 x 100mls bottles of high calorie milk every day to try and encourage her to put on weight. Although she tried a good variety of solids, it was always in such small quantities, and meals often went untouched. My mum reminds me still of a time when I was very happy one lunchtime as Emily had eaten well … in fact she had eaten two olives and a piece of mushroom from the top of a piece of pizza, but that was good for her!
As well as struggling with weight and poor appetite, Emily did not develop as quickly physically as other children her age. Emily could not sit unaided until 10 months and never crawled, as she didn’t have the muscles for it. She was late to bear weight on her legs and she didn’t start walking until over 18 months of age. She was four before she could climb stairs, and much to her elation, finally managed to jump and skip when she was five.
Other people’s perceptions of Emily can sometimes be a bit difficult, although this has improved a lot now that she is a bit older and does not look as radically small compared to her peers as she did when she was a toddler. When she was little, children often wanted to baby her and pick her up like a doll, and adults often commented on what an advanced child Emily must be to be able to talk at such a young age. We had to explain that actually Emily is older than she looks and that it is important that she is treated appropriately for her age. It was also a struggle to find age appropriate clothes for Emily as she only fitted into clothes designed for much younger children (still in nappies) and her feet are much smaller than most toddlers. H&M and Gap kids have been a godsend with their adjustable waists on trousers and skirts. She still has remarkably small feet – a size 7 when most of her peers are size 12/13 or larger, and she is in clothes size 4-5 at age six.
We do have some concerns for the future – one is whether to use growth hormone or not. If she continues to grow at the rate she currently is, Emily can expect to reach a height of around 4ft 10 inches, which we would be happy with. She is between the 2nd and 9th centile at the moment for height, which is great, considering she was way below the 0.4th for so long. However, if her growth does slow, then it might be that Emily may only reach a height of less than 4 foot 6” without intervention. Then we would certainly consider growth hormone therapy as a solution. We’re also aware that we have to watch out for signs of early puberty and we know that there will be issues with her teeth as she grows older, as there just isn’t the space for her big adult ones in her small mouth.
However, for now, at six years of age, weighing just over 33lbs and measuring 109cm tall, Emily is doing very well. She enjoys mainstream school and mixes well with her peers. She is a well-adjusted young girl with plenty of confidence and plenty to say!
Parents: Sophie and David
Birth weight: 1.1 kg (2 lbs 7 oz)
Gestation: 32 weeks
Diagnosis: severe IUGR (intrauterine growth restriction) due to placental insufficiency (diagnosed during pregnancy); Russell Silver Syndrome 11p15 loss of methylation (diagnosed when Emma was 18 months); heart defect detected when Emma was in KCH Neonatal Unit, and referred to the cardiologists who identified ‘Cor Triatriatum’.
Body asymmetry: yes – right side from shoulder to foot smaller than left side. Emma wears a raised shoe with 2 cm platform on right shoe.
Gastrostomy: yes – operation in August 2009 at age 22 months. Second operation to put in replacement ‘mickey button’ in August 2012
Growth hormone treatment: yes – started when Emma was aged 2.5 years in May 2010. Currently on 1 mg
Current height: 104 cm
Current weight: 14.45 kg
While in the Neonatal Unit, an ultrasound test revealed a problem with Emma’s heart, which at first doctors believed was a heart murmur that would heal itself in time. As a precautionary measure, they decided to refer Emma to the cardiologists at St. Thomas’ Hospital who examined her and concluded she had ‘Cor Triatriatum’.
Emma was born with a very rare heart defect ‘Cor Triatriatum’ which means ‘heart of three atriums’. The left atrium of her heart was divided by a membrane, which was blocking her blood flow. There was a small hole in the membrane which allowed some blood to circulate but as Emma grew the hole remained the same size, causing increased pressure in her heart. She was seen every 6 – 8 weeks by the cardiologists at the Evelina Children’s hospital, St. Thomas’, when she had an ultrasound to assess the seriousness of her condition. The cardiologists wanted to allow her to grow as much as possible to maximise the success of the operation weighed against the amount of pressure they could permit Emma’s heart to sustain. It was a judgment call on the part of the consultants. Each time we had an appointment we didn’t know what the outcome would be – whether the operation would be scheduled for the next few weeks as a matter of urgency... or not. We felt happy when the operation was not required immediately as it gave Emma more time to gain weight and strength but at the same time we wanted Emma to be out of danger with the membrane removed.
When the operation was finally scheduled we felt relieved but then Emma had a serious case of bronchiolitis... It was a very anxious time as she lost weight very rapidly and all the hard-won lbs she had acquired in the previous few months melted away. As well as dealing with the illness, there was the added pressure to try to ensure that Emma was 100% well in time for her operation. In the end, the op had to be deferred for a few weeks and I decided to take the added precaution of not having any contact with other children during this time. The day of the op was decided on and we had an opportunity to talk to all the professionals concerned – the consultant cardiologists, the cardiac outreach sisters and also the surgeon who would be operating on Emma. Questions we had were, for example, whether Emma would be able to fly in an aeroplane and whether she would be able to have children without impacting her heart. All the professionals were very supportive but meeting the surgeon was particularly reassuring as he emanated a calm competent manner. We had been told there was a 2% chance that Emma wouldn’t survive the operation, but that not performing the operation would result in Emma being on a life-long lung support machine. It was made clear to us that there was not really a choice.
On the day of the operation, 13th November 2008, we arrived at 7.00am as requested, and Emma, 13 months, was oblivious to what lay ahead and played happily with the hospital toys. The anaesthetist came to bring a tiny theatre gown for Emma to change into and then led us to what seemed like a room full of people, all of them anaesthetists! I sang ’The bear went over the mountain...’ to Emma (afterwards I thought, what a mountain she had to climb!) as the mask was placed over her nose and mouth...she was asleep within seconds and we were ushered away. The operation would take at least four hours so we decided to walk along the Thames towards Tate Modern to buy Emma some picture books. I felt surprisingly calm – perhaps due to my mind having replayed so often, in the weeks before, the worst case scenario of attending a funeral with a tiny white coffin...Inside Tate Modern, the sound of drumming rain was part of an art installation in the main foyer, a strangely comforting sound for me at that moment.
Emma’s heart surgery was very successful and Emma recovered rapidly and in fact only stayed in intensive care for one day, after which she was transferred to the ward. She now has annual appointments with the cardiologists to monitor her heart, although they do not anticipate any further complications.
Cor Triatriatum has not been linked to RSS as it is so rare, but a project in France is researching whether heart defects in general are more prevalent in RSS children. Emma’s geneticist asked us to participate in this project by providing Emma’s details and the paper is yet to be published.
Emma is now 5 years old and is in Reception at primary school. She is now on target in terms of height for her age (between the 9th and 25th centile) and on the lowest centile for weight. She is full of energy and enjoying school. She has overnight feeds of Fortini via gastrostomy and daily injections of growth hormone. All the medical cares take place at home.
NG tube and gastrostomy tube
After Emma’s heart surgery, doctors advised that she should have a naso-gastric tube again (she had one as a newborn in the KCH Neonatal Unit but was discharged without it) to try and boost her weight. The following seven months with the naso-gastric tube were particularly stressful as the tube would come out and have to be re-inserted on average every four to five days. Emma developed a fear of the community nurses who came to the house and this fear even extended to all unknown women. When the community nurses were not available (they were often overstretched with patient requests), I took Emma to the local A & E hospital to have the NG tube replaced – always quite an expedition and invariably a long wait as re-inserting an NG tube is not considered a priority in A & E. I also had to be particularly vigilant during the overnight feeds as the tube would on occasion wrap itself dangerously around Emma’s neck. On other occasions, the tube would suddenly come out during her overnight feed and the Fortini would continue to be pumped out and soak her cot with milk. For all feeds, the daytime Bolus feeds as well as the night feeds, the NG tube had to be tested for the correct pH level to check that it hadn’t moved to the lungs, which can be potentially life- threatening.
For all these reasons I was very keen for Emma to have a gastrostomy, which at the time I considered the perfect solution after doctors said she would require long-term supplementary feeding. Emma was tested for reflux with the 24 hour pH study and was found to have moderate, mostly ‘silent’ reflux which would not be a barrier to having the operation. However, initially the gastrostomy created problems (this is due to the stomach being pulled to the surface of the skin and so closer to the oesophagus) in that it resulted in Emma having severe reflux to the point that I started to question whether we should have gone ahead with the operation at all. This lasted three months after which Emma was seen by the gastro-enterologist who prescribed Omeprazole and, eventually, the reflux was reduced.
When Emma started nursery at age 20 months, she still had her NG tube until her gastrostomy operation two months later. Staff at the nursery were trained by the community nurses to give Emma Bolus feeds including checking pH levels by aspirating a tiny sample of her stomach contents through a syringe. On a few occasions, the NG tube came out while Emma was at nursery and the community nurses strongly advised that it should be re-inserted as soon as possible, in the nursery if necessary, something I had hoped to avoid as I wanted to comfort Emma at home as she was always so distressed each time it was re-placed. Fortunately Emma’s keyworker was very kind and affectionate and gave her plenty of cuddles and thankfully only had to deal with the NG tube for 2 months.
Emma had her gastrostomy tube operation in August 2009 and didn’t attend nursery for 2 weeks to fully recover. When Emma came back, the community nurses provided addtional training to the nursery staff and returned each time Emma was moved to a new room within the nursery. Emma was at nursery for three years, 3 days a week.
In August 2012, Emma had another operation to have her gastrostomy tube or PEG replaced with a ‘mickey button’.
Feeding programme since birth
As a baby, Emma reached all her physical developmental milestones very late (she also had hypotonia – weak muscle tone). She could sit up independently only at 12 months and learned to walk the day before her birthday age 2.
She had very low energy levels and feeding from the bottle was exhausting for her. She stayed in KCH Neonatal Unit for 11 weeks. After reaching the hospital target weight of 4lbs at two months, she had to stay longer in order to learn to bottle feed without dependency on the naso-gastric tube – this she achieved after another four weeks when she was allowed to go home! Only two nurses succeeded in bottle-feeding Emma and they both took great pride in having that particular gift (I certainly couldn’t match them except towards the end of her stay!) While at the Neonatal Unit, Emma was fed with 80% expressed milk and 20% Nutri-Prem 1 and later Nutri-Prem 2, as doctors felt she needed the benefits of a formula tailored to premmies.
The hospital encouraged Neonatal Unit babies (after the first week of life when they were drip-fed) to follow a feeding regime of first two-hourly, then three-hourly, and quickly graduating to four-hourly feeds by age 5 weeks (Emma was 3.5 lbs at that stage). The three-hourly feeds suited Emma quite well but she was clearly too small and vulnerable to sustain the wait of four hours. She cried in a demanding and desperate way after 3 hours and then fell asleep with exhaustion. Then she was fed an hour later with the NG tube. I said I wanted to revert to three-hourly feeds, the four hours wait was clearly causing Emma distress and raising her cortisol levels, but they said all babies needed time to become acclimatised!!! As all the babies on the ward had the same timetable, I began to think that perhaps, as professionals, their system should be considered the course of action...As a new mother, it is very easy to defer to professional opinion. Eventually, however, I said I was really
unhappy about the situation, and suddenly, after two weeks of witnessing Emma’s desperate crying, they acknowledged their mistake and reverted to three-hourly feeds. After five years, this incident still upsets me. Of course, at the time, Emma hadn’t been diagnosed with RSS with its risk of hypoglycaemia...Emma could potentially have been in danger by this hospital routine. It seems to me, as a basic principle, that any baby crying for food should have their needs met. Towards the end of Emma’s stay at the Neonatal Unit, the main objective was for Emma to learn to bottle feed and as the more regimented approach didn’t really suit her, they decided to do demand feeding - when Emma showed any sign of being hungry, we had to seize that opportunity to feed her!
When she was discharged from KCH, she was prescribed with Infatrini, a high calorie milk for babies under 12 months who are classified as ‘failure to thrive’ (a term I dislike!) and is used as a food substitute for older babies who have problems consuming solid food. Because it is so densely packed with calories, more vulnerable babies struggling to drink can have a small amount, the equivalent of a much bigger volume of ordinary formula (or breast milk), and so conserve more energy to grow. Emma continued with Infatrini until 12 months and was weaned at 6 months (4 months corrected age) and even though she was only 8 lbs at the time and couldn’t yet sit up, the dietician said her stomach was ready for solid food, at least only purees. The baby-led weaning theory would have been completely inappropriate for Emma and probably most RSS babies!
She grew quite well until she was 8 months and then her growth rate faltered and slowed considerably so that at 13 months she was still only 12 lbs. After 12 months, Emma was prescribed with Fortini, a food substitute like Infatrini but for toddlers and older children. Emma still has overnight feeds of 300mls of Fortini via gastrostomy.
Emma’s RSS 11p15 diagnosis was made when she was 18 months, but she was tested for RSS mupd7 and also given an MRI brain scan at 2 months while at the Neonatal Unit due to her leg length discrepancy which a doctor linked to RSS. Both MRI scan and genetic test for mupd7 results came back normal. Testing for RSS 11p15 was not yet readily availble in 2007 as it had only been recently discovered around this time. The doctor who suspected RSS had told us what he believed (in a quite blunt and insensitive way, I have to say), but it was clear to us that the senior doctor considered conjecturing about syndromes to parents not appropriate as, when I tried to find out more about RSS, she kindly but very confidently asserted Emma’s leg length discrepancy and body asymmetry was ‘just one of those things’ and said that Emma was ‘a lovely little girl’ by way of reassurance. The counselling sessions and other professionals poised to get involved if Emma had tested positive for RSS at that stage were dropped and Emma was discharged as a particularly hard-to-feed IUGR premmie.
However, the fact that the subject of RSS had been raised, meant that I was often googling the condition and the more I read, the more convinced I was that Emma matched nearly all the characteristics of the syndrome – she had very thin limbs, body asymmety, a little elfin face, a prominent forehead, tiny hands and feet , a cafe–au–lait spot, poor feeding and very low energy levels (though that must have been compounded by her heart defect of Cor Triatriatum). Once when she saw one of the cardiologist, the subsequent report made reference to her ‘dysmorphic’ features (which I was a bit offended about, not realising that this is a standard medical way of describing patients who have asymmetry for example) and asked the doctor if he suspected RSS. He said he couldn’t make an informed judgment as he was not a specialist in that field, but that he would refer us to the geneticist at Guy’s Hospital. It was then that Emma (18 months) was finally diagnosed with RSS 11p15. The diagnosis brought a mixture of feelings – having a child with a syndrome means recognising that there will be long-term issues to deal with and I could no longer try to believe that
‘she’ll grow out of ...’ but there was also a sense of relief that Emma’s problems had a label that professionals would respect and adhere to and I also felt pleased that I’d had an active part in finally obtaining Emma’s diagnosis.
Other professionals involved in Emma’s care
Emma’s endocrinologist is a key person in Emma’s care. He has been prescribing growth hormone treatment for Emma starting in May 2010. She has now had daily injections of growth hormone for over two and a half years and is currently, since November 2012, on 1 mg per day.The injections don’t cause her too much upset – she sometimes cries a little but usually just in anticipation rather than during or after the injection. In the first year of the treatment, she had two insulin tests, 6 months apart, which involved putting in a canula to test, at regular intervals, her blood sugars over four hours after putting 70 mls of Lucozade through her tube (she refused to drink it!). She has really benefitted from the treatment – I would describe it as an all round ‘tonic’. Not only does it help children grow in height , but it strengthens their muscles, improves stamina and increases energy levels. Emma is now on target for height, though she is more petite than her peers. She is full of life and I’m usually struggling to keep up with her when she shoots ahead on her micro scooter!
Other professionals are her paediatrician who has known Emma since she was a baby and provides ‘holistic’ care – asking about all aspects of Emma’s development and occasionally giving a different viewpoint from other professionals which adds perspective to any choices we need to make as well as making things potentially more confusing!
As a baby Emma had a dietician and a speech and language therapist (involved in a feeding programme) and Emma’s dietician continues to be involved in Emma’s care as she visited Emma’s primary school recently; the community nurses who we saw so much in the past still see Emma to assess her tube every three months; there is also a nurse who we can contact if we have a problem with the Easipod (the growth hormone injection device); Emma saw the gastroenterologist on a temporary basis when she had reflux problems after her gastrostomy operation; we see Emma’s geneticist occasionally as she is interested to see how Emma is developing and tells us about genetic research in RSS; and Emma’s GPs are always very attentive in dealing with Emma’s various health issues.
We also have 6 monthly appointments with the Orthotics Department who measure Emma’s legs and feet so that the shoes I buy for her can be sent off to have a platform added on her right shoe. Sometimes people ask me if her smaller leg will ‘catch up’ and even doctors, incredibly, have sometimes thought that growth hormone will enable her right leg to catch up with her left. The growth hormone just gives her whole body an overall ‘boost’ and her leg length discrepancy is unchanged.
When at Orthotics, we see Emma’s physiotherapist who checks her spine, as children with body asymmetry can develop curvature of the spine, but she has always commented that Emma’s spine is ‘nice and straight’. Perhaps this is partly due to the fact that, from the moment Emma started walking, she has always had a platform on her right shoe.
We are grateful to all the professionals involved in Emma’s care.
Toby - IUGR/SGA
D.O.B – 04/07/07
Birth weight – 680g 1lb 8oz dropping to 610g (1lb 5oz)
The start of the pregnancy was straightforward. The 1st scan was at 14.3 weeks - all looked good. My 2nd scan was at 22.2 weeks. The fluid amount was normal, head, heart etc. all healthy (a boy). But after measuring the femur, he stopped and stared at the screen, and then turned and asked us if I had been ill or on any medication at the start of the pregnancy. My answer was No - I was on no medication, did not smoke and ate a balanced diet. A consultant was called to have a look at the screen, she explained the baby was a lot smaller than expected and it may be due to the placenta or a genetic abnormality. I had to go back a week later to check the growth. Of course, Google helped to add to our worries. This scan (at 23.2 wks) showed again the baby was too small - and had not grown the amount expected in a week, basic placenta check showed abnormalities - she hoped I would make it to 29 weeks. She called another consultant and arranged a detailed scan with a fetal obstetrician in Bristol for the following day. This sent alarm bells ringing. We left feeling confused, angry and petrified.
The next day we arrived at the fetal medicine unit, Bristol to see the consultant. As I was so upset they put us in a private room. The scan showed he was indeed too small (10oz), the placenta was shown to be insufficient and he had an echogenic bowel (the bowel wasn't getting enough blood so was dying). There was absent end diastolic flow on both umbilical arteries. We were told that the absent flow in arteries would be in keeping with placental disease, the normal amount of fluid, normal movements and normal utero placental circulation would argue against this. We were told our baby most likely had a genetic abnormality - to support this Toby’s wrists were permanently clenched throughout scans, which suggested a syndrome that would affect his brain function. Andrew (dad) and I were tested for cystic fibrosis and a blood test for infection. I was offered an amnio, which we accepted (all tests came back normal).
At 24+6 weeks I reported feeling movements (I hoped he had grown a lot), Toby was now 13oz. The scan showed that there was redistribution to the middle cerebral artery and an absent A wave in the Ductus Venosis (this is blood flow into the heart). We were told the most likely cause for his IUGR (growth restriction) was placenta insufficiency - but the clenched wrists still suggested a syndrome. At 25+6 weeks (now 15oz) the scan showed reversed flow in both umbilical arteries (the blood that was going in was also pumping back out), pulsability in the umbilical vein and continued absent flow in the Ductus Vensosus. Delivery was discussed but because he was under 1lb 2oz they said he wasn’t viable, so he was not delivered (thankfully). Over the next week we waited for him to slip away - if I didn’t feel him move we imagined the worse. We even discussed where he would be buried. After feeling no movement in the early hours, one morning, we went to the hospital. The doctor was very sensitive and said sometimes monitors don’t find heartbeats (I think this was just in case I needed a scan to see if his heart had stopped. Thankfully, he found a healthy heartbeat, so we were sent home. I saw a midwife soon after and after braking down she told me I no longer needed to see her as I had regular scans! I believe she may have been spoken to as my consultant was shocked because I needed more visits to a midwife to check blood pressure as I was high risk for pre-eclampsia. The emotional support we were offered was non-existent.
We were scanned often. At 29+6 weeks (Toby now 1lb 3oz) was active and despite the poor blood flow the fluid level was normal. We were no longer led to believe he would die in-utero, but instead they focused on his future being difficult to predict once born (his bowel was also very bright - starved of nutrients, so were told this could result in death once born) and as his wrists remained clenched they told us some babies with certain syndromes can survive with minimal blood flow. We carried on with the pregnancy despite having the option throughout to terminate (we were a long way past the 24 week abortion limit). We were told the process and decided we didn’t want to go down this route. The baby would be loved regardless.
At 32+1 weeks on the 4th July 07, following a scan that showed reversed blood flow and a CTG showed decelerations, we were booked in for a c-section later in the day in Taunton. As we were leaving St Michaels, Bristol, I started to bleed and had an emergency c-section as the placenta started to come away (if this happened 10 minutes later - Toby stood no chance). Toby was born weighing a little more than expected (1lb 8oz) Toby’s head was the size of a 27 weeker, weight 24 1/2 weeker and femur 23 weeker. He was ventilated for 12 hours and then was breathing air! (Toby’s wrists had normal movement). His umbilical cord was so thin they could get no blood from it, so a line was put in through his leg. Toby’s blood sugars were low. He was given caffeine to regulate his breathing (thought to reduce the risk of cerebral palsy and cognitive delay). He was wrapped in a body wrap to keep him warm.
The next day Toby was transferred to our local hospital (Taunton). The nurses commented it was odd seeing such a tiny baby acting so much older. He was put on Cpap because he was struggling with the amount of effort he needed to breath. Toby was put in a study researching when was best to feed IUGR babies with abnormal doppler scans (the ADEPT trial). He was put in the late feeding trial. He had his 1st feed of milk at 9 days old - the next day his belly was distended, hard and his colour was grey. On our way in we had a phone call asking if we were coming in as he was very sick. This was the worst moment of our lives because we thought we were going in one last time to see our boy. We watched him like a hawk, his oxygen needs increased and he was under constant observation. He was given back-to-back double antibiotics for presumed necrotizing enterocolitis (infection of the bowel). The study was aimed at reducing the risks of NEC in the future - this causes the loss of many prem infants). His dying bowl in pregnancy was thought to be the reason for the onset of NEC. Xrays showed his bowel was still in one piece (so surgery to remove parts of the bowel was avoided). He gradually got better and feeding was put on hold. He got all of his nutrients from TPN. On day 29 he came off TPN. Unfortunately he was unable to tolerate my breast milk due to malabsorption, so was on pre-digested milk. His liver was playing up which resolved in time.
Toby didn’t go to the toilet for a week, X-rays were carried out to see if he was properly formed in the area and that he had no obstruction. It turned out he had a sluggish bowel. Toby was on CPAP for 39 days, in an incubator for 44 days and a hot cot until he was just over 2 months. Toby was treated for Jaundice twice, had 2 blood transfusions and tests/X rays on all areas of his body - kidney, heart, stomach, lung scans etc. ECG, full body X ray, detailed eye tests which left him looking like he had been knocked in the eye. He also had lots of head scans to check for bleeds and to check he had no fluid because his fontanel was large, his forehead was bossed and his head size was big for his body - no fluid was detected. We were told if he had fluid on the brain a shunt would be fitted to drain the fluid. Toby had hypothyroidism - picked up in the heel prick. He projectile vomited regularly which made him forget to breath - he needed extra oxygen when he did this. On his due date he was measured for the 1st time at 38cm. As he was term he was allowed to sit more upright in a bouncer and listen to music.
Throughout his SNICU stay, he struggled to gain weight - he went down to 1lb 5oz the day after he was born. I was told to hold off touching him as much as possible as rest may help him grow. He was given extra calories early on, which helped him. Every feed he had, contained extra calories. A geneticist came to see him at 1 month old and she couldn’t point to a specific diagnosis but wanted to repeat his chromosome test. Toby had soft markers, which left the geneticist wondering if something caused the IUGR - he was small, he had hypothyroidism, large bossed head and a trans palmer crease. A physiotherapist videoed Toby in SNICU and decided she would follow up on him as his lower limbs were not moving as they should. His movements were rigid and uncontrolled. We worried he wouldn’t walk. We were given exercises to do with Toby.
Toby came home tube fed, on 11 different medications (some needing 2 doses a day) and on oxygen after 11 weeks weighing 5lb 2oz. If he hadn’t had the calories from such a young age his weight would have been a lot lower. After 1 week at home he was readmitted due to bronchitis and was in an oxygen box - he stayed for 1 week. I hated the tube I woke up constantly worrying i hadn’t tested it properly and he would drown from the milk. At night, I would put him down and hope to see him alive in the morning. Toby never woke in the night so I would take him downstairs, turn the lights on, TV on and make lots of noise to stir him. I helped him suck a bit of milk by moving his lips, moving his jaw and squeezing the teat. I also made the hole bigger to temp the milk down, as he had no desire to suck. The little he did get down he would projectile vomit which eventually got better on Domperidone,Omeprazile and Ranitidine. After 6 weeks I took out the tube and was adamant it would not go back in. I fed him constantly, around the clock, little and often, with lots of added calories - holding for a while after to help his reflux (although he would often still be sick so the process would start over again). At his appointment he actually gained a little so I was allowed to leave the tube out - this remained a huge struggle but I made it sound a lot easier than it was at appointments so the tube didn’t go back in. The HV weighed him every couple of days, as he was very slow to gain. At 4 mths, Toby’s head increased rapidly - although he always had a bigger head size to his body, a MRI showed a little external hydrocephalus, this was not a concern and was short lived. At 5 mths (3 mths) corrected. we introduced solids after advice, as his milk feeds were so poor. We added oil, butter and calories to meals and double cream to puddings (although he often had this on his own to increase the fat content). His weight started to go up better so the added things to his food continued.
At 9mths Toby came off oxygen, which was wonderful! We were free of a long tube attached to a cylinder that was heavy and a hazard – I nearly fell down the stairs carrying Toby and once in his car seat the wire was tight around his neck - luckily he remained asleep. After this, I was paranoid of the risks of something so essential. Toby came off hypothyroidism meds at a one year, as his thyroid was now working, he also was able to have normal milk as he could digest the fats. We also started to get our life back - he was allowed into public places, play groups and a regular room at the doctors - we could now show our baby off! Toby effectively missed out on a lot of his 1st year.
Toby remained a fussy eater who was often sick after meals, after coughing or crying. He was still small for his age although the added calories from such a young age must have helped. He weighed 14.5lb at 1, 19lb at 2 and 22lb at 3. Toby started to crawl at 1 year and walk at 19 mths - amazing thanks to the great physio activities. His speech was slow and he struggled with pronunciation. He was very happy and so loveable and still is! At 2 years he had both testicles brought down and his belly hernia sorted out. At 2, Toby became a big brother to Daisy-Mae (his best friend and biggest fan), born at 37 weeks weighing 5lb 6.5oz. She was a very hungry baby who put on weight very well and has never had any issues.
At 4 years old, Toby started school - he looked so small compared to his friends. It was at this time we decided to go ahead with growth hormone. As well as growth it also builds muscle tone, which he lacks, allows him to have more energy and should help his poor appetite. He was starting to notice his size and so did others his age, parents would make comments regarding his size and we worried he would get a complex. At 4.3 he started GH, within a month his appetite increased dramatically, and he didn’t get poorly through the winter. Within a year he went from below the centiles to the 9th. Within 3 years he was on the 25th centile for height. His appetite is now great. In reception class, school referred him to Occupational Therapy, who referred him to Physiotherapy, due to hypermobility in lower limbs, small calf muscles, poor core stability and poor muscle tone. At 7 Toby no longer needs PT as his muscle tone has come on well - he isn’t as fast yet as his peers but I imagine one day he will be. He still gets tired easily and if he has a day that he has to do a lot of walking, the next day he will be in pain. He struggles at school, his concentration is getting better but he does find it hard to keep hold of information. He wears glasses and wears a patch for a couple of hours a day to help with his eye control. He had visual perception tests at the hospital and it did show deficiencies in 4 of the 7 areas and trouble tracking - we have been given exercises to support him in this area. Toby is starting to show a strength in Maths, so we are going to work extra hard in this area. We have gone private for SALT - his pronunciation is improving - only struggling to say l, th, r and longer words. The speech therapist thinks Toby either has muscle weakness of the tongue or minor oral dyspraxia. He is still under genetics – and is on a couple of studies. We are so proud of our IUGR boy.
We went to the Child Growth Foundation conference when Toby was 5 and 6 and found it extremely informative and Toby loved meeting other children who use ‘magic pens’ just like him.
I was born in 1974 with Russell Silver Syndrome and a severe cleft palate in the Northern General Hospital, Sheffield. I thought I would write this to help show the positive and the negative experiences I have had living with RSS.
For a while, I was unwell with illnesses like pneumonia, bronchitis, etc. In the early years I had 6 semi-successful operations to repair my palate. Although I still have a speech impediment, this is just part of what makes me unique. This period in my Mum and Dad's life must have been very frightening; I don't think I can really comprehend their turmoil and distress. I had a growth hormone test at 2 years old and it was established that I was producing growth hormone and having GH treatment would not work.
At the age of 3, my Mum and Dad were advised by a paediatrician to send me to pre-school early, as he felt that good social skills were very important. This was, and I believe still is, the best professional advice ever given to my parents. He obviously knew the importance of having a high 'Social Value' and being happy around people.
In these early years at school, I had a welfare assistant called Mrs. Stocks, who made sure I was able to manage. I remember she made me a set of fold-away steps on wheels so that I could reach the top shelf in the library. I made some good friends who saw it their responsibility to look after me and gradually I needed Mrs. Stocks less and less. My friends used to help me carry the crate of milk in at break time when the other children could carry it by themselves, but I believe it gave them a sense of worth. Bullying was never an issue because of this supportive network of friends.
In 1983, we moved down South for a work opportunity that my Dad had. We lived in Surrey for one year where I attended a mainstream junior school, unaided.
In 1984, we moved again to Tunbridge Wells. Here, the LEA did not feel that I would cope in the mainstream education system and although my parents tried to put me into the local junior school, the LEA (without meeting me in person) placed me in a special needs school that catered for 'weak' children, who for some reason, had fallen back in their education. I remember being told by the Headmaster that I would be a high flyer for a while until the other pupils caught up. Initially, it was a school that catered for children who had missed some of their education due to ill health, and then it extended its remit to children with learning and behavioural issues. After 5 years at Spring Gardens, I had fallen back from the mainstream system and was unable to return to it.
My brother had always been into sports and he had started taking me everywhere with him. This was our schedule; Monday evening was Cricket nets, Tuesday was Tennis, Wednesday was Table Tennis, Thursday Tennis again, Friday the local YMCA. Saturday was the Roller Disco, and Sunday I used to watch him play in street hockey matches on roller skates or cricket, which I occasionally joined in with. Although he was 4 years older and of average height, I always used to try to compete with him. I learnt to be happy if I performed well and made him worry that I might actually win. I began to learn that a perfect technique, agility and speed were my tools for trying to beat strength and power. In Table Tennis I used my lack of height by allowing the ball to come down to me below the height of the table and below the sight line of my opponent. I would then put a spin on the ball, so when it bounced it would change direction, go faster or slow down. These were major life lessons for me, I had to do things differently to compete and win against other people of my own age and average height. Nature will always compensate. If you lack height, strength and power, you gain speed, agility and accuracy. This is the same for life skills. Someone dyslexic can be very visual and creative; someone with autism can sometimes have great mathematical abilities. I think it is another attribute for RSS children and adults to be sociable and friendly, this is projected as a natural confidence, which should be encouraged.
It was around this time when I had an epiphany. I went on holiday with Mum, Dad and brother to Butlins. They had a sports program for children, where you could do activities to win Bronze, Silver and Gold awards. In our first week, my brother and I took part in the bronze award and successfully completed the goals set. In the second week, my brother continued onto the Silver award. Obviously I wanted to emulate him and do this too. My Mum and Dad were concerned that it might be too much for me; they thought I may not be able to achieve the award, feel like I had failed and be hurt. After a few arguments and tantrums, they relented. I took part in the award scheme and gained the silver award with my brother, but I also won a trophy for the most improved participant of the week. This was the epiphany; I realised that it was up to me to push myself and find my own limits, which is obviously the best motivation and mindset anyone can have.
One morning in late 1985, my blood sugar level dropped dangerously low and I spent a week in hospital having tests. After this, my Mum became very anxious about me having another hypoglycaemic attack, and insisted that I carry glucose tablets everywhere and a couple of chocolate bars. For many years after this attack, I would sometimes feel funny and light-headed. I now think that some of these latter moments were mild panic attacks, because it would happen if I thought about overwhelming stuff like the size of the universe or if I was standing alone in the middle of a field.
I remember my Nan once saying that “You will be a millionaire by the time you're 35”. People could see my drive. But then she would also ask my Mum if I wanted a cup of tea, and who would reply, “try asking him”.
As I became more fashion conscious and established my own identity, I found it frustrating that I was unable to find small fashionable clothes without some silly motif. So in my Home Economics class at school, which was also the life skills class, I decided to make my own. At this point I aspired, one day to create my own label for young or petite people.
In 1989 at the age of 14, one of my teachers suggested to my Mum and Dad that they went to visit a school called Valance in Westerham, Kent. This was a school that catered for physically disabled children, somewhere that I could try and aim to do GCSEs by the age of 18. In this school, there were different teachers for each subject. One of my first classes was a design lesson, where we had to draw a pencil and then design a personal logo using a technical drawing board. I loved this, it was easy and it felt like such a professional thing to do. I understood immediately about plans and elevations and reading architectural drawings. I could just do it.
At 15, things were really starting to happen for me; I ran a 10km cross-country race, I got my first Saturday job in a local food store and I learnt how to ski on a school trip to France. I decided to set myself a goal to achieve at least one thing every year from now on.
At 16, I started doing Karate, this was an activity that my brother didn't do. He was now taking part in pentathlons, these were not for me. I would not be good at high jump! I know my limits! Karate is something that promotes everything that I had started to stand for. 'You get out what you put in'.
At this point, I was asked by my paediatrician if I wanted to try GH treatment so I would reach 5' 3”, I remember he suggested that if I didn't reach this magical height then I might always be working in a supermarket type job and it would be difficult to get a girlfriend. I tried GH for one year and there was no significant impact from the treatment, I am now 4'10”. Although it probably did help my karate and gym training. Those comments at age 15 have resonated with me ever since, I hope doctors have learnt to be more careful about how they word things. I was also asked if I wanted another operation on my palate, which after much consideration I refused.
At 17, I learnt to drive and passed my test on the first attempt. I bought my first car from my Saturday and holiday earnings.
At 18, I was made redundant from my Saturday job because the shop was going out of business, (it wasn’t my fault..! Honest...!) So I applied for a Saturday/holiday job at Tescos. Since I had not been given the opportunity to meet the LEA people when we moved to Kent, I relished the opportunity of interviews. I knew that I could win peoples affections and impress them within a half hour interview. I always felt that the less they initially expected when I entered the room the more they would be impressed when I left the room.
I applied for a Foundation course at Art college, although for entry I required one A level and three GCSE's over grade C, one of which had to be Art related and I only had one of those requirements. I went into the interview with an art portfolio and two design projects, one where I had re-designed my bedroom with a mezzanine level into the attic, which I had done for my design GCSE. The other was a kettle tipper so a disabled person could make a cup of tea. I had a few friends who had never made a cup of tea in their lives because of their disability, but they managed to with my prototype made out of Meccano. After 10 minutes of the tutor looking at my art portfolio this was the conversation:
Tutor: “Your art work is not very good and you don't have the qualifications for the course, so why are you here?”
Me: Pointing to my design projects I said. “Well I have good ideas and lateral thinking skills but because I have communication problems with my speech impediment, I need a medium to communicate my ideas, and I think art is the way”.
Tutor: He smiled and said to the other interviewer, “I think we can fit him in somewhere as a bit of a wild card, can't we?”
At the end of this one year course, for my final project, I designed a new theoretical subterranean exhibition wing to the college and I got a Merit grade for the course. I then progressed onto a 2 year HND 3D design course at the same college.
By the end of 1994 at age 20, without having failed any gradings and in the minimum time, I achieved my Black Belt in Karate. I was also going to the gym everyday in my lunch hour and in total doing about 15 to 20 hours a week of exercise.
In 1996, I was coming to the end of my HND and needed to apply for a university course, one of my tutors said that because I was making a lot of models of my ideas, she thought that a model design course would be a good option. So I applied to go to the University of Hertfordshire. I gained an interview. Shortly after I left home, driving to my interview, I started to cry and had to pull over. I realised and already knew that I had made it, whatever happened from here on in I was going to be successful. I was given an unconditional offer at the interview, without waiting for my results from the HND, although, I did get a distinction for my HND course.
Like many people going away to Uni, I found this very difficult at first and being away from home meant I really had to get out and socialise. Since leaving school, I still felt like I had missed the whole cultural trip through not having a mainstream education. Education is not just about academia (although my essays were not that brilliant either), I felt that I had missed educated social interaction and learning about educated humour. I soon made some good friends, studied hard, and worked hard (part-time at Asda) and partied harder for 3 years.
In 1997, at the end of my first year, I got a paid work experience - prop making on the film set of 'Saving Private Ryan' for which I cancelled a lad’s holiday...! But I felt I could not miss the opportunity. In my 2nd year I did work experience at a visual effects company called Artem, making a model for an animation.
In 1999, I graduated with a 2:1 BA (Hons) Degree and for one year I worked as a freelance architectural model maker. Bit Boring!
In December 2000, I had an interview for a model making position in the miniatures department on a new film called 'Harry Potter'. When I first walked into the workshop with the model unit supervisor, I noticed the first impression of the workshop manager. His face said, “What will this little guy be able to do in helping to build a 30 foot model?” and when I started to talk to him he panicked because he could not understand me, because of my speech impediment. Luckily, I knew some guys that I had worked with before from my work experience at Artem, and was put to work with them. I knew that with the initial low expectations of the workshop manager I was going to do well. At the end of the first day, he came up to me and said he was very impressed and had not expected me to do such a good job! At the work Christmas party it was suggested to me that because I was quite small, I might be able to fit inside the Hogwarts model and install the fibre optic lighting for all the flamboux and window interiors. So when we returned in the New Year I was given this job within a team of 5 other special effects technicians.
In 2002, on the next Potter instalment, I was called back but there were just 2 of us installing the fibre optics. Now I wanted to start finding my way back to the design department, and get back to the drawing board. Also, miniature model making was a dying art and was starting to be taken over by the computer generated stuff. So I enrolled on a one month Art Direction course at Pinewood Studios, where I started to learn draughting for film set design. I impressed the founder and mentor of the course, and he let me spend time there practising my draughting between model making jobs.
In 2003, on the third Harry Potter, it was just me installing the fibre optics, and at the same time I was doing the same thing on a model for Charlie and the Chocolate Factory.
I had created a niche market from my size and personality. I have subsequently worked on all the Harry Potter movies, the Wizarding World at Universal Studios in the USA and other films like Stardust, Pirates of the Caribbean etc. I now work on the drawing board and computer, as a design draughtsman, drawing sets, props and vehicles.
I had always been a very anxious person, but in 2010, I realised that my anxiety was out of hand. I was having panic attacks, worrying about my health and worrying about being single. I went to see my doctor to get help and she suggested some CBT (Cognitive Behaviour Therapy). With the therapist, I broke everything down. I learned that everything that I did was an attempt to prove to people that there was more to me than what I felt they saw on the outside. So although I had always felt I had a lot of self belief, I was continually trying to communicate this to everyone, in a perpetual interview. I had been putting loads of pressure on myself, with work, girls, friends and family. It wasn't until March 2011 that this knowledge would filter through and I would understand and my most recent revelation and epiphany would dawn on me.
In September 2010, I joined the TARSS Facebook group. I was reading all the posts by other members and realised how alike the experiences of other RSS people were to my own. On 23rd September I noticed another member from Ukraine who was into rock climbing, skiing and fashion design, whose life experiences seemed to be similar to my own and she had such a positive outlook. I knew that I had to meet this person, so sent a friend request. We got to know each other through FB. I suggested that we met up and go skiing, and she said OK. At this point I still had some fears, I was frightened of flying, didn't like being on my own for long periods of time and I had a fear of injections (some vaccinations are recommended for Ukraine). I knew that I could use my CBT techniques to overcome these, so I enrolled on BA Flying with Confidence course, which worked and I was comfortable to fly alone. I then went to the doctors to have all the vaccinations recommended (some of which were in 2 stages), even though I felt they weren't all necessary, I wanted to work through my phobias. The trip also required me to travel alone on an overnight train across Ukraine and the whole journey would take 24 hours. In January I did this, I was very, very nervous all the way there. I met up with her and we had a brilliant time.
On my return I realised that I had achieved so much and that I had always been too pre-occupied with my worries and trying to show ability and value, that I had actually been devaluing who I am to myself. I am not the boy who the LEA would not allow into mainstream schooling or the person that was told what might happen if I didn't have GH treatment and reach 5'3”.
I have achieved so much because of my desire to aspire. Now I am just proud of whom I have become and hope that this inspires other RSS young people to assume high values, success and happiness.
On 24th June 2012, I successfully completed the Henley-on-Thames Triathlon, in aid of the CGF. I would like to thank everyone who sponsored and supported me.
the growth hormone | child growth charity | child growth conditions |
Russell Silver Syndrome (RSS) | Premature Sexual Maturity (PSM) | Sotos Syndrome | Turner Syndrome | Intrauterine Growth Retardation (IUGR) Multiple Pituitary Hormone Deficiency (MPHD) | Bone Dysplasia | Growth Hormone Deficiency (GHD) | Small for Gestational Age (SGA)