Help child with rare disorder visit a clinic!

 
$670
$4,330
Raised
Remaining

Summary

We have facilitated the establishment of 9 dup15q clinics around the United States. Our goal is for each of our 900 families be able to visit a clinic to receive the best medical care available for their children with this rare disorder. Dup15q Alliance provides family support and promotes awareness, research and targeted treatments for chromosome 15q11.2-13.1 duplication syndrome. Symptoms of this rare genetic disorder include autism, seizures and developmental delays.

What is the issue, problem, or challenge?

Dup15q syndrome is a rare genetic disorder caused by a duplication of chromosome 15q11.2-13.1. Individuals with this disorder often have autism, seizures and global developmental delays. Parents have a difficult time finding information and medical care specific to dup15q due to it's rarity. Dup15q Alliance provides education and support for those affected by dup15q and encourages research and targeted treatments.

How will this project solve this problem?

Dup15q clinics provide comprehensive health care for individuals with dup15q syndrome. Physicians in all the clinics collaborate to create the best evaluation and treatment protocols. Children with dup15q syndrome often have a difficult time with even small changes to their routine. Medical visits can be very traumatic. Staff at the dup15q clinics work to maximize the results while minimizing the disruption to the lives of these developmentally-disabled children.

Potential Long Term Impact

With focused evaluation and treatment of individuals with dup15q syndrome, more will be learned about this rare disorder. We will improve the lives now of those dealing with dup15q now with more effective therapies and diagnostic tools. Our hope is that clinicians and bench scientists will one day be able to create targeted treatments for dup15q syndrome.

Funding Information

Total Funding Received to Date: $670
Remaining Goal to be Funded: $4,330
Total Funding Goal: $5,000

Resources

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Organization

Dup15q Alliance

Fayetteville, NY, United States
http://www.dup15q.org

Project Leader

Kim Maring

Fayetteville, NY United States

Where is this project located?

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