Connor and his family are one of the winners of our 2020 Holiday Giveaway. Connor’s mom, Sierra, shared their story with us.
Connor was diagnosed with adrenoleukodystrophy (ALD) through newborn screening in CT. ALD is a rare genetic disease that causes the build up of very long-chain fatty acids in the brain. When VLCFAs accumulate, they destroy the protective myelin sheath around nerve cells, which are responsible for brain function.
The defective gene can cause several different but related conditions, Adrenomyelopathy (AMN), Addisons disease, and the most devastating form of the disease: Cerebral ALD.
cALD mostly affects boys between ages 4 and 10, leading to permanent disability, and death. Newborn screening for this disease is not done in every state, and it is EXTREMELY important since we found out about Connor’s diagnosis early, we are given the opportunity to monitor him with MRIs of his brain every six months, that way, if a lesion is ever found before symptoms occur we would be able to treat him with a bone marrow transplant, or gene therapy which has been found to halt disease progression. Not every boy with ALD will develop cALD, so our family holds onto hope that Connor will experience minimal effects from the disease, either way, we will do everything in our power to keep him healthy, and give him the best life ever!
This diagnosis has not been easy to navigate, but I have built a team of doctors in whom we love and trust. Dr. Eichler in Boston is an ALD specialist, and he is absolutely wonderful, Connor is in the best hands and we look forward to spreading the word on ALD, and educating others on this devastating disease.