We did it!
Donation protected
My son Cole is 22. He's a funny guy and kind to everyone. He was always my healthiest kid. A week before his 20th birthday, while serving a church mission, he woke up with very blurry vision that got worse as the day progressed until by that evening he was considered legally blind. He then lost balance and became extrememly intolerant of heat. After visiting specialists at numerous medical facilities including University of Utah, Mayo Clinic and Stanford, he was diagnosed with Adult Onset Leigh Syndrome, an extremely rare and progressive mitochondrial disorder with no cure. His only treatment is an expensive vitamin cocktail that is considered anectodal.
His disorder causes a disruption in the production of energy crucial to cell survival. Without the needed energy, his cells die, and it affects greatest the systems of the body that use the most energy: brain, heart, muslces, digestive. When he gets sick, it is a worrisome time, as his body does not have the energy to recover.
Last year, about 8 months after his diagnosis, he got a mild sore throat. That led to extreme fatigue, inability to swallow or digest food, his brain "forgetting" to tell him to breath, and very slurred speech. He was hospitalized. Fortunately, he fought hard, and was able to recover from all the symptoms except the fatigue and slurred speech. But even that was a great loss...he no longer could even walk to the end of the block, and we purchased a mobility scooter for him. Next time, I'm not sure what he may lose, as each time he has an illness it permanently lowers his baseline.
The good news is there are exciting developments in the field of genetic medicine, and there are clinical trials available right now that could help Cole have the energy his cells need to prevent further decline until the day comes that a cure goes to market. That cure is in development stages at Oregon Health Sciences University.
The problem is, all of the clinical trials require a genetic confirmation, not just clinical and radiographical diagnosis. Cole has been through a series of genetic testing without finding his particular mutation, but there is one genetic test he has been unable to have done: Whole Exome Sequencing (WES). Our provider, Blue Cross, considers WES experimental, even though a Special Report from Blue Cross dated August 2015 states, "For some patients, exome sequencing obtained after initial diagnostic evaluation (that may include other genetic testing) has failed may avoid the diagnostic odyssey and return a likely causal variant. "
Whole Exome Sequencing is our only hope of obtaining a genetic confirmation of Cole's disease and obtaining the necessary medications to keep him stable until Oregon Health Sciences University gets their protocol to market. Stanford and University of Utah have both petitioned Blue Cross to no avail. Both medical centers feel that WES could likely provide the diagnosis we need.
And we need that diagnosis quickly. Cole may not be the only one in my family affected. I have 3 younger sons, all fearful that they too may some day wake up to the horrors of a disease that strips them of their ability to live life joyfully. Leigh Syndrome is almost always maternally inherited, so I am likely the carrier of this horrible disease. It could be hibernating in all our bodies, as it was for Cole. Finding Cole's genetic mutation would allow doctors to test for that mutation in me, and if I have it, in my boys. We could then take precautions such as avoiding metabolic stress and starting the vitamin cocktail to prevent the disease from surfacing.
Cole has been such a trooper. After his diagnosis, he learned how to ski blind, played his cello, and listened to comedy all the time to keep his spirits up. He took off on his mobility scooter to visit friends. He sang at weddings and performed in talent shows.
Now, just as courageously, he has moved 500 miles away from home and is taking a couple of classes at a business college. It is difficult for him, as the disease has left lesions in his brain which have affected mental function. But he is determined to continue living purposefully, even if he has to do so with so much fatigue that he will lay down in the middle of a parking lot to rest.
Our funds are maxed out. Trips to specialists, regular accupuncture (the only thing that helps with his muscle pain), and his expensive vitamin cocktail have left me in the humbling position of asking for financial help. We need $7000 for Whole Exome Sequencing at Baylor University, the sooner the better.
Cole could remain stable with current trial medications, and could someday be healed, if only given a chance to receive those trial medications. Will you consider helping Cole, and possibly me and my other 3 sons? I know there are so many worthy causes. I would be just so overwhelmed and grateful to anyone who considered my cause worthy as well.
My boys are everything to me. They are my adventure buddies, my cuddle buddies, my heros. Please help me keep them all! Thank you so much for considering my cause and even for reading my plea. The more people who know even a little about mitochondrial disease, the more quickly cures will be developed. Scientists are even discovering connections between mitochondria and Alzheimers and Diabetes. A mitochondrial cure could affect millions! Again, thank you!
His disorder causes a disruption in the production of energy crucial to cell survival. Without the needed energy, his cells die, and it affects greatest the systems of the body that use the most energy: brain, heart, muslces, digestive. When he gets sick, it is a worrisome time, as his body does not have the energy to recover.
Last year, about 8 months after his diagnosis, he got a mild sore throat. That led to extreme fatigue, inability to swallow or digest food, his brain "forgetting" to tell him to breath, and very slurred speech. He was hospitalized. Fortunately, he fought hard, and was able to recover from all the symptoms except the fatigue and slurred speech. But even that was a great loss...he no longer could even walk to the end of the block, and we purchased a mobility scooter for him. Next time, I'm not sure what he may lose, as each time he has an illness it permanently lowers his baseline.
The good news is there are exciting developments in the field of genetic medicine, and there are clinical trials available right now that could help Cole have the energy his cells need to prevent further decline until the day comes that a cure goes to market. That cure is in development stages at Oregon Health Sciences University.
The problem is, all of the clinical trials require a genetic confirmation, not just clinical and radiographical diagnosis. Cole has been through a series of genetic testing without finding his particular mutation, but there is one genetic test he has been unable to have done: Whole Exome Sequencing (WES). Our provider, Blue Cross, considers WES experimental, even though a Special Report from Blue Cross dated August 2015 states, "For some patients, exome sequencing obtained after initial diagnostic evaluation (that may include other genetic testing) has failed may avoid the diagnostic odyssey and return a likely causal variant. "
Whole Exome Sequencing is our only hope of obtaining a genetic confirmation of Cole's disease and obtaining the necessary medications to keep him stable until Oregon Health Sciences University gets their protocol to market. Stanford and University of Utah have both petitioned Blue Cross to no avail. Both medical centers feel that WES could likely provide the diagnosis we need.
And we need that diagnosis quickly. Cole may not be the only one in my family affected. I have 3 younger sons, all fearful that they too may some day wake up to the horrors of a disease that strips them of their ability to live life joyfully. Leigh Syndrome is almost always maternally inherited, so I am likely the carrier of this horrible disease. It could be hibernating in all our bodies, as it was for Cole. Finding Cole's genetic mutation would allow doctors to test for that mutation in me, and if I have it, in my boys. We could then take precautions such as avoiding metabolic stress and starting the vitamin cocktail to prevent the disease from surfacing.
Cole has been such a trooper. After his diagnosis, he learned how to ski blind, played his cello, and listened to comedy all the time to keep his spirits up. He took off on his mobility scooter to visit friends. He sang at weddings and performed in talent shows.
Now, just as courageously, he has moved 500 miles away from home and is taking a couple of classes at a business college. It is difficult for him, as the disease has left lesions in his brain which have affected mental function. But he is determined to continue living purposefully, even if he has to do so with so much fatigue that he will lay down in the middle of a parking lot to rest.
Our funds are maxed out. Trips to specialists, regular accupuncture (the only thing that helps with his muscle pain), and his expensive vitamin cocktail have left me in the humbling position of asking for financial help. We need $7000 for Whole Exome Sequencing at Baylor University, the sooner the better.
Cole could remain stable with current trial medications, and could someday be healed, if only given a chance to receive those trial medications. Will you consider helping Cole, and possibly me and my other 3 sons? I know there are so many worthy causes. I would be just so overwhelmed and grateful to anyone who considered my cause worthy as well.
My boys are everything to me. They are my adventure buddies, my cuddle buddies, my heros. Please help me keep them all! Thank you so much for considering my cause and even for reading my plea. The more people who know even a little about mitochondrial disease, the more quickly cures will be developed. Scientists are even discovering connections between mitochondria and Alzheimers and Diabetes. A mitochondrial cure could affect millions! Again, thank you!
Organizer
Deborah Quinn Walgren
Organizer
McCall, ID
