This is our beautiful son Aiden, born in early 2020. Aiden is 2.5 years old with a contagious smile and abundant energy. But in June 2021, Aiden was diagnosed with Pitt-Hopkins Syndrome (PTHS), a rare neurological disorder that makes his life very different from other toddlers.

Our names are Geetika and Saurabh (Sunny). Since Aiden’s diagnosis, our family has been on a journey we never expected, but we are not without hope. Science is the key to the future and we invite you to join us in our journey to keep Aiden’s smile bright.

AIDEN’S LIFE WITH PTHS

Every aspect of Aiden’s life is affected by PTHS, including loss of speech, loss of fine motor skills, vision issues, and severe GI issues. He is also non-ambulatory. His receptive language, however, is more advanced than his expressive language—he can understand what you say to him, but cannot respond.

Aiden works tirelessly to live life to the fullest despite being in a body that does not cooperate with him. Since he was 6 months old, he has been in a variety of therapies with his favorites being music class and therapeutic horseback riding.

Aiden brings so much love and joy to everyone who knows him. He enjoys the simple things in life and interacting with everyone. He loves watching other kids running around the playground. He loves dancing, playing drums, swimming, and riding a horse. We know he wants to join the kids on the playground; we know he wants to say “mama” and “dada”; and we also know that all of this can be a reality with gene therapy.

PTHS & GENE THERAPY

Aiden’s Pitt-Hopkins Syndrome is caused by a de-novo deletion of a single nucleotide on the TCF4 gene in the 18th chromosome. Gene therapy can restore the lost gene activity, and prevent or reverse many of the deleterious effects of PTHS.