Right when COVID hit the US, Christian was diagnosed with RSV and hospitalized. They noticed his poor head control and ordered an MRI and genetic testing. The MRI revealed a lack of myelin formation and genetic testing revealed he has a mutation in the TUBB4A gene. We were told the mutation was rare, was a spectrum, and there were only about 70 documented cases worldwide (it is actually around 200). My husband and I tested negative for the gene so it appears to have spontaneously mutated with Christian. There is no treatment. All we can do right now is provide supportive therapies.
We went months without receiving a proper diagnosis. We were hopeful when we were able to be seen at Boston Childrens Hospital only to be devastated again when they told us Christian has TUBB4A related Leukodystrophy. Leukodystrophy is a group of rare genetic diseases that impact 1 in 7,000 individuals. This disease affects the myelin of the brain. There are 50 known “types” and that number is growing. Kids affected have motor issues, speech issues and sometimes, feeding issues. It is progressive.
After months of research and networking , we found Mass General and Dr Florian Eichler who runs the Leukodystrophy clinic there and then finally to Dr Adeline Vanderver at Children’s Hospital of Philadelphia who specializes in TUBB4A Leukodystrophy.
We are currently traveling to Philadelphia and Mass General a few times a year for supportive therapy and follow up and to Spaulding rehab in Boston for rehab therapy. This is in addition to weekly PT, OT and vision services locally. We will also be adding speech to that soon. He is not mobile, fed via Gtube and is visually impaired due to CVI. Presently, there is no cure for this disease.
Right now we are trying to raise funds for research. There are 2 big studies going on. We will need to modify our van and potentially our house at some point based on equipment needs, but right now, we just want to fund research. A cure would give him a fighting chance and we want that more than anything.
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