When Ollie was diagnosed with Pitt Hopkins Syndrome, it was absolutely heart-breaking for us and brought a sadness that we didn’t know existed. It’s a very rare disease, – there are only 6 people living in Ireland with it and only 600 worldwide. It effects fine and gross motor skills as well as cognitive skills.
Some manage to walk, on average around the age of 7 years old, and most are non-verbal, but some learn to build up a small vocabulary. Ollie is doing very well on the gross motor skills front, and we hope he will be able to walk in the next year, so in Pitt Hopkins terms, he is a bit of a champion!
Pitt Hopkins sufferers require care for life.

Ten months on from Ollie’s diagnosis we have a much more positive outlook, and mainly because we recognise that there are things we can control and others we can’t, and we are also comforted by the fact that Ollie sleeps well, eats well, and other than his chromosomal 18 deletion and the difficulties that brings, he is a healthy young boy. And most importantly, he is a very happy chap!

One of the main things that keeps us positive is the fact that there are several of the worlds top scientists working on a cure for the disease. As Pitt Hopkins is so rare, funding into finding a cure is quite limited. However, any developments into research for Pitt Hopkins is also likely to benefit research into cures for other conditions and diseases such as Autism, Angelmans, and Alzheimers. And this brings in a wider group of beneficiaries. Any support into this research would be much appreciated, and hopefully someday allow Ollie to function and enjoy life just like every other kid his age.

Fundraiser link:  Finding a Cure for Ollie