FAMILY NETWORK
Is your loved one affected by Jamuar syndrome?
You might feel overwhelmed, even hopeless. You crave treatment that will help your child flourish. You might wonder if there is anything you can do to help such treatment exist.
Yes, there is.
You have knowledge.
You have medical records.
You have personal experience.
And you have a voice.
Five Things You Can Do
01 Introduce Yourself
The scientific community can’t develop therapies if they don't know where the patients are or how to reach them.
We formed the TUF Family Network so you can be the first to know about ways to advance potentially life-changing research and updates to clinical care. We can also put you in touch with other families in the network if you desire.
To join the The UGDH Foundation's family network, please click Enroll Now!
02 Share Your Story in a Real Scientific Study
Our partner organization, COMBINEDBrain, is leading a study that you can participate in for free from the comfort of your own home. The information you share will generate important data for understanding Jamuar syndrome.
Here's how to participate:
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Find a digital copy of your loved one's genetic report.
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Click the button below to go to the COMBINEDBrain enrollment page.
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Enter the necessary information. (Select "Caregiver" if you are the parent or guardian.)
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After you authenticate your e-mail, enter the additional information requested.
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After you consent to the study, simply take all the surveys available in your language.
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Retake the surveys each year to provide helpful long-term data.
03 Donate Samples to Our Biorepository
The UGDH Foundation is recruiting patients who can donate lab samples to a biorepository. Having a biorepository of UGDH-specific materials can open doors to important new research! Qualified researchers can request to use samples in studies.
At this time, we can only collect lab samples in the United States.
To learn more, please contact us.
04 Get Testing for Variants of Uncertain Significance
Have you been told that your loved one has a "variant of uncertain significance" (VUS) on the UGDH gene?
This label means that the particular variant has not been studied enough to be sure it's pathogenic.
VUS status is a problem. It can get in the way of diagnosis, counseling, and clinical trial eligibility. For example, if a UGDH-specific treatment gets approved to test in people, patients with VUS may not be allowed to try it.
We have a way to help you get more research on your VUS. To learn more and apply, click below.
05 Fundraise for More Research
More opportunity exists right now than we can take advantage of. Donations help us do good work much faster.
As a parent, you are giving everything for your loved one, and it may be difficult to contribute personally. But perhaps you have family and friends who are eager to do something in honor of your son or daughter. Spread the word about The UGDH Foundation. Donations absolutely will make a difference.