Brady's PDCD Treatment Fund
Donation protected
In mid-December 2018, Brady got very sick, with symptoms progressing in seriousness to the point that he was admitted to the hospital for evaluation. Tests subsequently confirmed that Brady suffered a stroke in the basal ganglia area of his brain, resulting in weakness, difficulty walking, tremors, etc. Further genetic testing showed the cause to be a rare metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency (PDCD). A mutation in Brady's mitochondrial DNA caused a condition in which his body is unable to properly metabolize carbohydrates to convert them into energy. As a result, dangerous amounts of lactic acid build up in his body, culminating in serious, life-threatening consequences such as stroke. Other risks are brain atrophy, cognitive delay, seizures, and death.
There is no cure for PDCD. There are no approved treatments at this time. Because of the rare nature of this disease, research is sparse. Most kids with this disease present in infancy and only live one to two years post-diagnosis. Few experts specialize in this field, so obtaining the proper diagnostic plan for Brady will be a challenge. The most knowledgable doctor on PDCD practices in Cleveland, to whom Brady’s parents are seeking a referral.
While there are no approved treatments for PDCD, a ketogenic diet appears to help some patients (further studies are needed and not every patient responds the same). Not every ketogenic diet provides the same therapeutic effect, so a specific nutritionist who specializes in helping patients with metabolic disorders is necessary to oversee Brady’s diet. Brady requires weekly physical therapy to regain strength and coordination due to his brain injury, which insurance does not fully cover. Brady sees a neurologist, a genetic counselor and will hopefully see the PDCD specialist in Cleveland. The medical bills for each of these treatments are overwhelming and ongoing.
We hope to raise funds to offset the crushing cost of treatment, specialized food, therapy, travel, emergency care, and a million other needs not met by insurance. While the emotional toll of an incurable, dire diagnosis creates acute stress and heartache in a family, we hope to ease the financial stress so the family can focus on more important things.
More information about PDCD may be found here: https://www.umdf.org/types/pyruvate-dehydrogenase-complex-deficiency/
There is no cure for PDCD. There are no approved treatments at this time. Because of the rare nature of this disease, research is sparse. Most kids with this disease present in infancy and only live one to two years post-diagnosis. Few experts specialize in this field, so obtaining the proper diagnostic plan for Brady will be a challenge. The most knowledgable doctor on PDCD practices in Cleveland, to whom Brady’s parents are seeking a referral.
While there are no approved treatments for PDCD, a ketogenic diet appears to help some patients (further studies are needed and not every patient responds the same). Not every ketogenic diet provides the same therapeutic effect, so a specific nutritionist who specializes in helping patients with metabolic disorders is necessary to oversee Brady’s diet. Brady requires weekly physical therapy to regain strength and coordination due to his brain injury, which insurance does not fully cover. Brady sees a neurologist, a genetic counselor and will hopefully see the PDCD specialist in Cleveland. The medical bills for each of these treatments are overwhelming and ongoing.
We hope to raise funds to offset the crushing cost of treatment, specialized food, therapy, travel, emergency care, and a million other needs not met by insurance. While the emotional toll of an incurable, dire diagnosis creates acute stress and heartache in a family, we hope to ease the financial stress so the family can focus on more important things.
More information about PDCD may be found here: https://www.umdf.org/types/pyruvate-dehydrogenase-complex-deficiency/
Organizer and beneficiary
Alicia Johnson
Organizer
Sandy, OR
Mandy Johnson
Beneficiary
