Bens journey to 1st steps

Hi my name is Ben, i am 6years of age but when I was 4 I was diagnosed with a really ultra rare genetic condition called Pitt Hopkins Syndrome (PTHS).

PTHS is a neurodevelopment condition which causes delayed motor development and moderate to severe intellectual disability. Symptoms are caused by a spontaneous mutation in the TCF4 gene.

I go to a special school called Parkview which I love, and I avail of Physio, Occupational Therapy and Speech and Language Therapy once a week which is great, I can now stand for a few mins but I can’t walk or talk yet!

My goal is to avail of more specialist intensive therapies to help me to develop my skills and help me to achieve my dream which is to walk. I have recently been allocated a place for 3 weeks in Napa London (in October) which is an intensive therapy unit. I would also love the opportunity to avail of equine therapy and hydrotherapy to help my hypotonia and make me stronger. We are also currently researching an AAC communication device and other specialist equipment to help me on my journey.

My mummy and daddy are doing various fund raising events over the next 6 months. One of which is the “seven sevens” mountain hike in Aug 2025 (dtc), my older brother Luke is also going to hike Hen mountain in Co Down.

I have all the love and attention I need from my family but I would be so grateful if you could help support me on my journey towards my first steps and communication. I will keep you all posted on progress with my Instagram page Ben_morethanyouknow.