I went for my 20 week scan full of anticipation of seeing my baby and left with the difficult news that he/she had a cleft lip and probably cleft palate. The consultant rescanned our baby and found no other anomalies. We spent the next four months learning what this meant in terms of possible surgery and the list of professionals involved.

Later on, complications in my pregnancy meant I was induced at 37 weeks and gave birth to a beautiful 5lb baby girl. She was small and with an incomplete cleft lip, but we were ecstatic.

By two days old she was increasingly unwell and admitted into SCBU where she underwent many tests – her major organs were scanned, and she also had blood tests, an ECG and a chromosome test. I sat with her as the paediatrician scanned her heart and the registrar came in to say “I’ve got Oxford on the phone - they want to know if you’ve found anything else. “No“, came the reply. I knew that Anna’s chromosome test was being analysed in Oxford and that the comment did not mean they were sitting looking at a normal set of chromosomes; I shut down totally and did not acknowledge what I had heard. (When will doctors learn not to have conversations about their patients over their heads as though they are not there?)

Two days later a different paediatrician asked to speak to both my husband and me. She explained that Anna’s medical problems were resolving and probably related to her prematurity rather than permanent conditions, as we had feared. However, Anna’s chromosome results unexpectedly showed that she had a condition called Turner Syndrome (the mosaic version). I listened in shock as she explained the main features. She was positive and I remember her saying we should have normal expectations for our daughter.  

The paediatrician had one key piece of advice, which was not to tell anyone initially, to take time to get over the shock and then consider carefully who we told so Anna could grow up as Anna and not the little girl with Turner’s. This has been hard for me, it goes against my normally open nature but now I feel it was a very sound piece of advice. We have taken a need to know policy so the medical professionals know of her diagnosis and some of our family. 

I did go through a period of grieving, I was helped by attending a CGF conference and talking to other parents and giving myself time alone to reflect. I can remember an important time when I read that only half of babies conceived with Turner’s are actually born live and I felt great relief and very fortunate to have my Anna.

So where are we now? Anna is now 4 ½ years old and I believe that without the early events in her life she would not have a diagnosis. She is a normally developing little girl who enjoys dancing, loves babies and spends hours playing with her two-year-old sister at mums and dads or doctors (she wants to be a doctor when she grows up). She attends pre-school where the staff do not know of her diagnosis, we decided that if the staff had concerns about areas that may be down to the TS I would explain but they have no concerns.  She is beginning to read and write and will take any opportunity to try.

I never considered that Anna had feeding difficulties as a baby and small child but an article I read recently made me realise that she does have some of the typical TS features but they were mild enough that with a bit of common sense we overcame them.

I have read that people with TS do best with structure; Anna definitely needs to know exactly what is going to happen and sometimes asks an exhausting number of questions until she is happy. I used to wonder whether this or that was part of her TS but now I know that does not matter - it is part of her.

Anna is growing well between the 9^th and 25^th centile (the rest of the family are on the 25^th centile). The plan has always been that she would start growth hormone treatment around her fifth birthday so this will be reviewed in August.  Her left kidney is monitored and there is probably a duplex section. It is difficult to judge as a parent but her paediatrician says that she can see TS in Anna’s facial features and body shape now, which she couldn't when Anna was younger. Her main problem so far has been her hearing due to middle ear problems common in TS and children with clefts. However, she recently had her first normal hearing test for 18 months so hopefully this will improve as she grows.

Anna is looking forward to starting school in September and I feel very lucky to have such a caring, affectionate, bright and enthusiastic daughter. I used to worry about the future but I’ve grown in confidence that we can overcome any difficulties.

The best things I have done is to let Anna grow up without a label, and to attend two CGF conferences which are very positive about the way forward for girls and women with Turner Syndrome.