Fight for Tully's miracle: Pitt Hopkins research

International Pitt Hopkins Awareness Day is on 18 September and the van der Hilsts are in fundraising mode: read on to learn why it's so important to us, how you can help, and what kickstarter-style rewards we've come up with!

Tully and the PHRF Million dollar mission

The Pitt Hopkins Research Foundation (PHRF) is a charity dedicated to supporting research and finding a treatment & cure for Pitt Hopkins Syndrome. Our youngest son, Tully, was genetically diagnosed with Pitt Hopkins Syndrome in February 2021 after months of tests and specialist consultations.

This year, PHRF set a huge goal of raising one million dollars to bring three life-changing treatments to market for Tully and others with Pitt Hopkins Syndrome: gene therapy, microbiota transfer therapy, and ASO genetic therapy. We dearly want to make these treatments and future research a reality.

We're doubling your donation + Why GoFundMe?

PTRF is a US-based charity. For this reason, donations are not tax-deductible in Australia. That's why we're collecting donations using GoFundMe. But, thanks to the help of other Pitt Hopkins parents, we will be donating all funds raised through a US-based employee donation doubling program. That means if you donate $100, the Pitt Hopkins Research Foundation receives $200 towards their million-dollar goal!

Donor rewards

Because the Kickstarter model is fun and we're asking a lot, here's what we'll give you as thanks for giving Tully a shot at a better life. The rewards stack up, so the more you give, the more you get.

(For those who donated via Jess's birthday fundraising campaign in July, you have a head start on earning your donor rewards!)

What is Pitt Hopkins Syndrome (PTHS)?

Pitt Hopkins Syndrome (PTHS) is a rare neurodevelopmental disorder caused by a mutation of the TCF4 gene on the 18th chromosome. Most of those living with PTHS suffer from profound physical and intellectual developmental issues, inability to speak, motor coordination and balance challenges, debilitatingly painful gastrointestinal issues, breathing abnormalities, and seizures. They also usually have an unstoppable cheery disposition and a love of music and water. There are approximately 1000+ people in the world diagnosed with this rare syndrome. Many more remain undiagnosed or misdiagnosed.

PTHS means Tully hasn’t met normal developmental milestones since he was 4 months old. Now as an almost-3-year-old, we’re celebrating inchstones like waving at another person, babbling, and being able to sit on the floor without falling for more than a few minutes. By comparison, at this age his brothers were reciting the alphabet, identifying construction vehicles, and climbing all over play equipment. Tully’s just received a standing frame he can be strapped into so his feet, ankles and legs can develop healthily despite his inability to stand or walk like his peers. Pitt Hopkins Syndrome means 260 hours of physiotherapy, occupational therapy, speech therapy, and educational therapy each year to hopefully see him achieve and retain the equivalent of 3 months' development for a typical child.

That’s why we want your help. Together we can fund the research that will discover the miracle Tully needs to beat Pitt Hopkins Syndrome.

Fundraise for Tully

If you'd like to raise even more funds for Tully, here are some ideas:

Thank you for helping fight for Tully's miracle.