PMSFUK - Phelan McDermid Syndrome Foundation UK

Case Studies

Sharon and Annie Nealgrove

Annie NealgroveAnnie is a very happy, cheeky 10 year old who loves getting into mischief and doesn’t let any of her difficulties stop her from doing the things she wants to do. Annie has a sister who is 20 years older, a brother-in-law and a 3 year old nephew, she loves all of them dearly.

 

We first started to notice Annie was a slow developer when she still couldn’t sit up unaided at almost 11 months old and could not crawl on all fours but I didn’t really take too much notice because she was happy and healthy. Sadly that wasn’t to last and at 19 months old she developed encephalitis and became seriously ill, she was rushed by ambulance from our local hospital in Brighton to the ICU at Guys hospital in London. She had specialist care and at that point we were told there was a very high chance she wouldn’t make it through the night, it was the worst day of my life not knowing if my beautiful baby girl would survive. Thank god she was a fighter and after two weeks she came home. She had stopped talking and walking and was very wobbly on her feet and when sitting she would lean to the side but we were told again and again it was all due to the encephalitis, and lots of therapies were put in place but she still had problems and wasn’t speaking.

 

After a couple of years I demanded genetic testing as she was still not speaking despite weekly speech therapy, was still very wobbly on her feet and was still double incontinent as well as showing autistic traits. Annie was diagnosed as having global development delay, but we still didn’t have any concrete answers. Then when Annie was 7years old I saw the genetics team again and they confirmed Annie did have not one but two chromosome deletions one they knew nothing about and still don’t and the other turned out to be Phelan-McDermid Syndrome.

 

By this time she was walking but falling a lot, talking a lot more but her understanding was still very poor. Annie was way behind her peers in all aspects of her development. It was a very emotional time for me – I had to say goodbye to all the hopes and dreams I had for my beautiful little girl, and focus on helping her to achieve her potential and be happy. I was relieved that now I would be listened to by the medical community when I say there’s something not right but unsure of what the future holds for Annie. There’s not a day that passes that she doesn’t make me proud of something she has achieved and knowing how hard things are for her. Annie is my inspiration!

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