Friends and Family,

 

Our goals are bold. They are born of feelings of desperation from watching our children continually suffer with a disease that slowly robs people of the ability to think, walk, and even talk. Most ULD patients participated in "normal" childhood activities, such as baseball, ballet, soccer, basketball, wrestling, and school dances. At some point, though, (usually during the school years) the brutal falls began - injurious falls with no warning - that often resulted in concussions, broken bones, stitches, and traumatic memories. As the disease slowly progressed, it became impossible for our children to walk safely, so most relied on wheelchairs. Severe depression, intense suicidal ideation, and even psychosis have occurred. Patients often feel very isolated and unproductive, because they cannot control bodily movements, sometimes even to eat and swallow medications. The continual seizures cause great confusion and disorientation. They cause mental and emotional anguish. The terrible irony is that any medications that are designed to help ease mental and emotional suffering, also happen to lower the seizure threshold, making it extremely difficult to ease this pain. 

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In the case of my son, he has lived with myoclonic jerks (a type of epileptic seizure) since age 6. His upper body would jerk almost continually, unless he was heavily medicated. Any medication that was strong enough to control his myoclonic jerks severely impaired his ability to think and learn. For ULD patients, thinking  and intense focus can cause seizures, so, as you can imagine, school was an unending nightmare. We were later to realize that the school years were the easy times. Later, the progression got much, much worse. 

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He has spent the last year in a wheelchair, and, while that is hard, the devastating part is the mental anguish that comes with the progressive worsening of this disease. It is terrifying to watch, let alone experience, the slow destruction brought on by ULD. The constant myoclonic jerks have not only stopped Mike from playing sports, working, and driving, they are now interfering with the simplest daily tasks. Imagine how it would feel if constant little seizures kept you from even being able to put food in your mouth. Most of us take for granted that our hands and arms will continue to work for us. Most of us take for granted the ease with which we can express our thoughts by talking. ULD slowly robs people of the ability to use their limbs, walk, and even talk. 

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There is now an opportunity to stop the progression of this devastating disease. Gene therapy holds great promise for ULD. Families of ULD patients are uniting together to raise money for mouse trials and then human trials for the use of gene therapy in treating ULD. The money that we raise will go toward funding these trials under the direction of Dr. Berge Minassian, of the UT Southwestern Gene Therapy Program. 

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There are ULD patients all over the world who will benefit from these trials. Although the disease is rare, it is suspected to be more common than once thought. ULD is commonly misdiagnosed as a more common and benign form of epilepsy, Juvenile Myoclonic Epilepsy, during the early years, when symptoms appear mild before the progression becomes obvious. As awareness of ULD increases, it is expected that more and more patients will be diagnosed with this difficult condition.

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Would you please consider donating to research that would stop this destructive, neurodegenerative disease?

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Sincerely,

Michele Collins

CEO

Hope for ULD™

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