We are a family of four; Fiona, Gary, son Ethan and younger sister Emily and we live in Glasgow, Scotland. Ethan was born after a seamless pregnancy at 37 weeks on the 2 nd November 2009. After a couple of nights in intensive care for observation we took him home. He was adorable with his big blue eyes, thick brown hair and big lips, almost smiling from birth! We realised at four months that Ethan was not showing signs of meeting his milestones so through our family GP we were put in touch with Yorkhill Children’s Hospital in Glasgow.
For almost two years we met with paediatricians, neurologists and geneticists. Finally, in March 2011 before his sister Emily was born we were told by our geneticist that Ethan has Pitt-Hopkins syndrome (PTHS). We are very proud of what Ethan has achieved at the age of four. He learned to sit at 9 months, stand and walk with aid at 2 years old and more recently rolling, although he is not keen on his tummy! Ethan now walks confidently holding hands and we are hopeful one day in the near future walk on his own.
Ethan has been treated for sleep apnoea and on a regular plan for constipation. He leads a happy, healthy life and is a joy to be around. He is very sociable, excitable and for someone that doesn’t speak very vocal! Living with PTHS is not always easy however we are very fortunate to have met other families throughout the world with PTHS and have such loving, close-knit family and friends.