Rebekah Hall

The Short Story

I'm here because I love Thad, and I want the world to be a better place because of him.

We started The UGDH Foundation to unlock better treatments and a cure for everyone living with Jamuar syndrome, the disorder that affects my boy Thad. The Million Dollar Bike Ride is our first major fundraiser.

The Penn Medicine Orphan Disease Center has been running this event for twelve years, raising over $22 million for rare disease research. For the first time ever, because of our involvement this event will now represent families affected by Jamuar syndrome. There are scientific professionals in the world who want to work on solving the problem of UGDH-related disorders. All funds raised for our team can go toward enabling them to do that work!

I have a personal goal of raising $1500. As a team, we want to reach $20,000. Thank you for considering supporting this cause. We are grateful for any donation and every prayer.

The Long Story

Thaddeus Hall was born a hairy little man in 2011. Very cute with his dark mane and fuzzy cheeks. He had a high Apgar score, but for some reason he would clench his fists and furrow his brows and arch his head backward. The neonatologist said perhaps he would grow out of it, but we were getting a referral to neurology.

Neurology knew something was wrong but couldn't tell what. A week of testing at Children's National Medical Center found nothing. But as the months passed, Thad did not achieve any developmental milestones. Then, at four months of age, he presented with infantile spasms. Soon he got a feeding tube. As the seizures and heavy medications took effect, he lost most of his ability to use his arms and legs.

Still, no diagnosis.

For five years, no diagnosis.

Then his geneticist was contacted by an international research team. They had identified several patients on the same spectrum of symptoms who all had one thing in common: variants on the gene known as UGDH. Could Thad participate in a study to investigate this further?

Yes. A skin sample was sent off.

In 2017, our geneticist told us that the researchers had been able to demonstrate his disorder was indeed a result of UGDH variants. In 2020, the first major study on this disorder was released in Nature. The authors proposed calling it Jamuar syndrome.

The gene UGDH encodes a vitally important protein. Babies can't survive in the womb if it doesn't work at all. Somehow these mutations are letting enough of the protein function so the kids can survive, but not without devastating consequences. Some kids with Jamuar syndrome are smiling, eating by mouth, and having no respiratory challenges even though they may have seizures or very significant developmental delays. Thad is affected very profoundly. If you've met him, then you know he's completely wheelchair bound, nonverbal, unable to support his own head, tube-fed, and (since 2022) has a tracheostomy to help manage respiratory illnesses.

But if you've met him, you know his face is vibrant with life and peace. You might have seen a dimple form and the curves of his mouth turn when he's outside or around happy people.

In May of 2022, I loaded Thad in the van to take him to see a new geneticist in Baltimore. I began the journey ready for disappointment, ready to hear another doctor say there's nothing she could do, ready to check off the "Well, I tried" box. But I said a prayer, and I thought of the families around the world who face this diagnosis. Some of them aren't as close to pediatric specialists as I am. I realized I needed to go to this appointment on their behalf.

The appointment was amazing. The doctor and her genetic counselor were prepared for all my questions and pointed me to some training on how to start a non-profit. That's when it all clicked. We knew the research community was interested in Jamuar syndrome. We knew that friends and family of those affected by Jamuar syndrome would want to support research to find better therapies. Starting a non-profit would create the engine for bringing those interests together.

The UGDH Foundation was soon formed. And the Million Dollar Bike Ride is our first major fundraiser.

The Penn Medicine Orphan Disease Center has been running this event for twelve years, raising over $22 million for rare disease research. For the first time ever, this event will include Jamuar syndrome. All funds raised for our team will go toward research to find better treatments and a cure.

I have a personal goal of raising $1500. As a team, we want to reach $20,000. Thank you for considering supporting this cause. We are grateful for any donation and every prayer.