The story of Shirley
Hi, my daughter Hannah was our first born. She was born 18 days late after a 28 hour labour. She weighed 7lb 10oz and was long and skinny and covered in dark hair that came right down over her brow, she looked like a little monkey. After 3 days in hospital we came home with our lovely new baby with no idea she had any problems. Hannah was always a bother to feed. I had to give her a dummy on the midwife’s advice as she just wanted to suck for comfort. But when feeding it was a case of whipping the dummy out and sticking the bottle in before she missed a sook or she’d scream and it was impossible to then feed her.
Anyway she progressed pretty much as normal, she held her head up, rolled, sat up, crawled all within the normal range and walked at 14 months. The only concern we had was with her speech. We mentioned this to our health visitor who decided to do some assessments and came back and told us she thought there might be more than just speech delay as she’d noticed other motor skill delays. So we were sent to our local hospital paediatric dept. where they did some more tests and then told us that Hannah was developmentally delayed and that they thought she a learning disability. By now we had another child so life was pretty full on and to be honest I can’t remember all the tests etc that were done at this point.
When Hannah was almost 4 she had her 1st seizure. Again more tests and we were told she had epilepsy. She was put on medication but it took a couple of years for the dose to get right and her seizures controlled. By now we’d been referred to the genetics dept of the Western General in Edinburgh. Another array of tests and by now I was expecting our 3rd child. We were then told they suspected Hannah had a genetic condition, Nicolaides-Baraitser syndrome after discussing her case at Great Ormond St in London. At that time in 1996 they only knew of 2 others in the world with Nicolaides-Baraitser syndrome, a girl in England and a boy in Poland. There also was no test at this time to confirm the diagnosis they were purely going by facial characteristics and symptoms.
Years went by and Hannah went to special school where she didn’t make great progress. Her level of learning never really went by P1 stage. She still can’t read more than a few words, can only write a few words very immaturely, can’t tell the time, only knows numbers up to 10 with difficulty. She developed scoliosis and had to wear a body brace for a number of years but luckily her curve didn’t require surgery. Around 2008/9 we discovered through Facebook other families with NCBRS children and met up with them at a conference in London along with a couple of Geneticists, Dr Sousa and Dr Heniken (no 100% sure of their names) who were studying the conditions. It was fantastic to finally meet others with NCBRS but we were still a very small group of about 20 at this point.
Each year we met up and eventually they identified the gene that caused NCBRS and developed a genetic test to confirm the diagnosis. Hannah had her genetic sequencing done and was found to have a change in the SMARCA 2 gene. Yes, she had NCBRS. Hannah is now almost 29 and a happy girl who loves music and going to see her favourite bands. She’s had various health issues over the years but luckily nothing too serious. We are blessed to have found our NCBRS family and we’ve now grown to nearly 200 (not sure on the exact figure). Please check out our website for more information www.ncbrs.comÂ