Help Sick Child with Fabry Disease
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HISTORY OF ILLNESS
In 2008 my son Dominick was diagnosed with a rare genetic disorder called Fabry Disease. Fabry disease is an x-linked chromosome disorder. It prevents the body from producing an enzyme called alpha-galactosidase. Without this enzyme, it causes a build up in the cells of the body, which lead to pain, strokes, heart disease, and kidney failure. Since age 3, Dominick has experienced severe neuropathy in his feet. When it first started, he would lay on the floor and scream "Mommy, please cut my feet off!". He has dealt with this pain, along with other manifestations of this illness ever since.
TREATMENT
Dominick recieves Fabrazyme, enzyme replacement therapy, every week, and has done so for the past 10 years.
This is a treatment that slows down the progression of the disease, but it is not a cure. He has endured two chest implant surgeries to recieve these treatments. He has suffered from mobility issues, and had achilles tendon surgery last year to correct idiopathic toe walking. He now walks flat on his feet, but with a cane.
DISHEARTENING NEWS
We learned at a recent visit with his geneticist, that the infusions are no longer helping. He is losing kidney function, and has white matter lesions on his brain. Fabry disease does not normally progress this quickly. His reflexes are not the same on each side of his body. He has developed tremors on one side.
HOW YOU CAN HELP DOMINICK
His doctor feels certain that he is suffering from other congenital defects, along with Fabry Disease. To find these other defects, he needs a complete genome study. Unfortunately, his insurance will not cover this. We need funds to pay for this very expensive testing.
His sister and I also suffer from Fabry Disease. My heart, kidneys, and brain have been affected. I am on disabilty and unable to work.
He is the bravest person I know. Throughout pain, surgeries, treatments, he has remained positive. He has dreams of travelling the world. He wants to help the homeless, make positive changes to healthcare system, and he empathizes with others in need. At his young age, he knows too much about the pain in this world, but rather than becoming bitter, he is passionate about making change, and helping others. Dominick's entire life has been hospitals, doctors, needles, and surgeries. Please help us get the necessary testing to help improve his quality of life.
In 2008 my son Dominick was diagnosed with a rare genetic disorder called Fabry Disease. Fabry disease is an x-linked chromosome disorder. It prevents the body from producing an enzyme called alpha-galactosidase. Without this enzyme, it causes a build up in the cells of the body, which lead to pain, strokes, heart disease, and kidney failure. Since age 3, Dominick has experienced severe neuropathy in his feet. When it first started, he would lay on the floor and scream "Mommy, please cut my feet off!". He has dealt with this pain, along with other manifestations of this illness ever since.
TREATMENT
Dominick recieves Fabrazyme, enzyme replacement therapy, every week, and has done so for the past 10 years.
This is a treatment that slows down the progression of the disease, but it is not a cure. He has endured two chest implant surgeries to recieve these treatments. He has suffered from mobility issues, and had achilles tendon surgery last year to correct idiopathic toe walking. He now walks flat on his feet, but with a cane.
DISHEARTENING NEWS
We learned at a recent visit with his geneticist, that the infusions are no longer helping. He is losing kidney function, and has white matter lesions on his brain. Fabry disease does not normally progress this quickly. His reflexes are not the same on each side of his body. He has developed tremors on one side.
HOW YOU CAN HELP DOMINICK
His doctor feels certain that he is suffering from other congenital defects, along with Fabry Disease. To find these other defects, he needs a complete genome study. Unfortunately, his insurance will not cover this. We need funds to pay for this very expensive testing.
His sister and I also suffer from Fabry Disease. My heart, kidneys, and brain have been affected. I am on disabilty and unable to work.
He is the bravest person I know. Throughout pain, surgeries, treatments, he has remained positive. He has dreams of travelling the world. He wants to help the homeless, make positive changes to healthcare system, and he empathizes with others in need. At his young age, he knows too much about the pain in this world, but rather than becoming bitter, he is passionate about making change, and helping others. Dominick's entire life has been hospitals, doctors, needles, and surgeries. Please help us get the necessary testing to help improve his quality of life.
Organizer
Chastity Holmes-Scrogins
Organizer
Wise, VA