My son was six years old when he finally got the diagnosis of Jamuar Syndrome. For five years after that, we simply managed. His condition was so rare and so new we were resigned to living without disease-specific therapies.
But then we realized the times were changing. Tools and technologies exist now that didn’t exist when he was born. And driving these technologies is a growing worldwide movement to make life-changing treatment available for every condition, no matter how rare.
You might be reading this letter because your loved one is affected by Jamuar Syndrome. You might feel overwhelmed, even hopeless. You might have trouble sleeping at night wondering what the future holds. You crave treatment, as I do, that will help your child flourish.
You might wonder if there is anything you can do to help such treatment exist.
Yes, there is. In fact, if you are a parent or guardian of someone with a UGDH-related disorder, your role is irreplaceable. All the money in the world can’t provide what you have to offer.
You have knowledge. You have medical records. You have personal experience. And you have a voice.
The scientific community can’t develop therapies without understanding the patients. And they won’t develop therapies if patients aren’t coming together and asking for them.
You can make a difference by sharing your loved one’s medical story. The UGDH Foundation exists to make that easy for you. We’re forming the TUF Family Network so you can be the first to know about scientifically useful and appropriate ways to share patient data. We can also put you in touch with other families in the network if you desire.
To be clear, rare disease research is a long game. The process will feel achingly slow. But we hope our work will make possible what would otherwise be impossible.
To join the TUF Family Network, please drop us a line at firstname.lastname@example.org
or use the form below.
Rebekah Hall, Chair
Harpers Ferry, West Virginia, USA