Climbing Kiliminjaro for Pitt Hopkins Research

I will be climbing the great Mount Kilimanjaro in Kenya from February 9th to 18th, 2022, to raise funds for the Pitt Hopkins Research Foundation, a non-profit organization with 501(c)3 status aimed at improving the lives of children and adults living with Pitt Hopkins Syndrome, including my 4 year-old grandson, Jude.

(Photo of Elephants against Kilimanjaro by Amoghavarsha JS )

What is Pitt Hopkins Syndrome?

Pitt Hopkins Syndrome (PTHS) is a rare genetic disorder affecting a specific gene in chromosome 18, called TCF4. PTHS is characterized by developmental delay, hypotonia and mobility issues, gastrointestinal challenges and a nearly complete lack of speech. On occasion, individuals with PTHS may also suffer from breathing problems and recurrent seizures/epilepsy.

Most instances of PTHS are caused by a spontaneous (de novo), non-hereditary deletion or translocation of the TCF4 gene, which has significant effects on a child’s developmental abilities. Most children with Pitt Hopkins will not be able to walk without assistance or speak, but can still live happy lives with the right medical intervention, care and assistance.

Pitt Hopkins syndrome is considered an Autism Spectrum Disorder with a genetic source. Due to its genetic relationship to autism, many researchers believe that curing Pitt Hopkins syndrome may prove to be a gateway to cures for similar disorders.

How will your contribution be used?

All funds raised will be donated to the Pitt Hopkins Research Foundation, a non-profit organization with 501(c)3 status which conducts research aimed at improving the quality of life of those living with Pitt Hopkins.

To learn more about Pitt Hopkins and the Pitt Hopkins Research Foundation please visit: https://pitthopkins.org/about-pitt-hopkins/