Hannah’s story (born 1991)

Hannah was born 3 weeks late on 18th April 1991. The labour was long, 28 hours but normal with no intervention needed. She weighed 7lb 10oz and had dark hair right down her forehead and back and seemed to be all arms and legs. Hannah cried a lot as a baby and was difficult to feed, she wanted to suck constantly so gave her a dummy on the advice of the midwife but to feed her you had to quickly take out the dummy and stick the bottle in before she missed a sook – otherwise she’d scream the house down! She also hated being bathed and would scream the whole time. She settled down by about 10 months and life seemed ‘normal’. Hannah was walking by 14 months and had achieved every other mile stone at around the expected age apart from talking.

At her 2 year assessment we mentioned this to the Health visitor and she then referred us to a Speech therapist. She in turn assessed Hannah and thought there was more to it than just a problem with her speech – her motor skills weren’t what they should be for one. We were referred this time to paediatricians at the local hospital where a barrage of tests were done but nothing specific showed up.  Help was given in the form of speech therapy and play therapy in the home and she got a place at a local nursery for kids with special needs. By the age of 3 Hannah was displaying some very autistic traits – obsessive behaviour around clothes in particular and food – chewing clothing, dislike of touch to the face, avoiding eye contact. She was very prone to tantrums. After one such tantrum at age 3 she took her first seizure. Hannah was diagnosed with epilepsy and put on Sodium Valporate. Over the next 18 months more seizures occurred until we got the level of the medication correct.

Also during this time we were referred to the Genetics Clinic at the Western General Hospital in Edinburgh. Again more tests, x-rays, MMR scan and still nothing in particular- unusual fingerprint pattern was something the did pick up on. Her consultant geneticist, Dr Fitzpatrick said he wanted to take Hannah’s case to a meeting at G.O.S.H. to see if there was anything they could come up with. At our next meeting he said they thought it could be Nicolaides Baraitser Syndrome and as there was only 2 other cases at the time – a girl in England (June) and a boy in Poland, there wasn’t much more they could tell us about the condition and what to expect. By now I was expecting our 3rd child and as you can imagine when they tell you it’s a genetic condition you fear another child could also have it.. Anyway Beth was born on her big Sisters 6th birthday and Hannah described her as the worst present she got hahaha!

Hannah had attended mainstream nursery and although she enjoyed it, didn’t make much progress and many friends. She also attended mainstream primary until P3 when it was felt she would be better in a special class, so was transferred to another school where she stayed until P7. She left primary school without having learned any more than she did in P1, she still couldn’t read, write or recognise numbers past 10. Hannah started Cedarbank Special School where she went for 5 years and loved it, especially cooking, art and projects. During this time Hannah was also diagnosed with Scoliosis and had to wear a body brace for 23 hours a day. Luckily after a few years wearing the brace her curve had stablised  and didn’t require surgery, it does still cause her pain however and difficulty with her mobility. After leaving school, Hannah got a placement at West Lothian College on a supported learning course, Independent living. 

After leaving college we were faced with another dilemma, what support was available for an Adult with Learning Difficulties. The answer I’m afraid was NOT A LOT! Hannah attended the local Epilepsy charity a couple of days a week which she enjoyed but unfortunately this support is limited and was only available for a limited period. She tried a few other groups, some she enjoyed and some she didn’t. She also went back to college and did photography course as she loves nothing more than taking photographs, especially trying to catch a Ghost on camera!

Hannah is now 24 and receives one to one support Monday to Friday to enable her to carry out her day to day tasks, meet up with her friends and attend various groups such as her Brazilian dancing. She still lives at home with her family and we can’t see that changing.

Over the years there have been other problems, Hannah had to wear specially fitted foot supports and shoes due to poor muscle tone and flat feet, she suffers from really dry, flaky skin, bouts of severe constipation and years of physiotherapy for various muscle tone problems. But there have also been improvements, her epilepsy has been very well controlled since they got the medication level right, she has been seizure free apart from small absences for years and I’m so glad to report that her tantrums have decreased as she matured into a lovely young woman, yes there is still the occasional one but we know the triggers and take steps to try and avoid them.

Hannah loves our annual NCBRS meetings and feels like a big sister to all the younger kids and likewise this is how they treat her. Finding this support after being out on our own for all of Hannah’s childhood was an blessing.  Hannah was finally officially diagnosed with NCBRS a couple of years ago after testing but to be honest by then we had no doubt she was a member of this wonderful ‘family’.