Hello. We are a family of four, Richard and myself, Caroline and our two daughters Anna our eldest who is 27 and Alice who is 25. Alice was 19 when we received a diagnosis of a mutation to her NAA10 gene related to Ogden syndrome in boys. She is now living in a supported living house just a 20 minute drive from our family home, visiting us at least every other weekend.
After a normal pregnancy and delivery Alice struggled to thrive as a baby, not gaining weight. She was very passive and slept well. I first noticed there was something wrong developmentally when Alice didnʼt meet her first significant milestone of sitting up independently. I struggled to persuade the medical profession that there was something wrong and eventually a physiotherapist confirmed that Alice needed a referral to a paediatrician.
Alice was diagnosed at 13 months old as having global developmental delay but it soon became apparent that this was accompanied by severe learning disabilities which would affect all aspect of her life and ours. Alice sat independently but was very wobbly, at 12 months. She never crawled but ‘bum shuffled' She took her first independent steps at 39 months.
Life was very hectic with lots of hospital appointments looking for reasons for her delay. She was tested for Rett syndrome, Cornelia de Lange and Angelman syndrome all drawing blanks. We just had to be reactive to any issues which came up and felt isolated and in the dark with no support group to turn to.
CAROLINE AND ALICE
written: November 2020
We had many worrying years of not knowing what the future held along with night after night of disturbed sleep. We had to fight for everything for Alice from special equipment to a very small respite package.
The impact on our family as a whole was enormous and very restricting of what we could and couldn't do as a family. Looking back finding a balance that suited everyone was pretty impossible!
Alice started to attend a special needs school for children with SLD two mornings a week in the nursery when she was two and a half. Through her junior school years she was able to attend her sisters local mainstream school one day a week. This integration was invaluable for us all but I think it had the most positive impact on her sister Anna. Alice was accepted by Anna's peers and became known in her local community. I would often be in our local town with Alice and people unknown to me would stop us to say hello to Alice.
Our special children are probably oblivious to how they influence those around them and in particular their siblings. Anna has gone on to be a paediatric nurse and we are so proud knowing that she is bringing a real holistic understanding when she's caring for a families like ours.
She remained at the same special school until she was 19 and it was just before she left school that we learned that her disabilities were caused by a mutation on her NAA10 gene. For me this finding was important as this would mean we could be more proactive regarding Aliceʼs health. With or without a diagnosis Alice is our beautiful unique daughter.
Pursuing a diagnosis was to protect and inform Anna if she were to have children and to may be flag up any hidden health issues. Both these questions were answered. Aliceʼs mutation was De novo and meant any future children Anna might have were at no higher risk and the possibility of Alice having a long QT could be investigated. The absolute bonus was that we were able at long last to connect with other families, share our story and find support.
Alice is one of the older members of the community and it is great to feel we can share our experiences such as negotiating puberty! Equally I feel that we are kept up to date with the latest medical developments relating to NAA10 as we follow the journeys of much younger members.
Alice is very sociable and although her vocabulary only extends to about a dozen words she is desperate to communicate and is very able to make herself understood. Her concentration span is very short and she demands a lot of attention which can be quite exhausting. As a younger child she was known by one relation as 'the busy person'! With maturity her manner has become less manic and she is much calmer. Alice has a really happy demeanour and quite a sense of humour. She enjoys horse riding, swimming - Alice learnt to swim at 22 proving she continues to learn new skills, socialising and music but her favourite thing to do is go out for dinner and cafe visits.
She loves her iPad and can negotiate the apps she likes very efficiently - not so keen to use it as a communication aid! She is quite a flirt and enjoys male company, Who knows what the future holds?
I have always felt that having been a mystery for so long, Alice is a bit of a pioneer, breaking new ground. Lets hope that together with medical research we can do the best for the future of our wonderful children and those still to join us.