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About Sean...

Sean was born in June 2004 and diagnosed with Alexander's Disease in June 2006. We noticed broad sprectrum developmental delays starting at about 3 months. After insisting on answers and finally finding a medical home at the Mayo Clinic in Rochester, Minnesota Sean was diagnosed by an MRI which showed the "classic" signs for Alexander's and it was also confirmed genetically. He has the R79C mutation. To combat this disease Sean receives weekly sessions of Speech, Physical and Occupational Therapies. At this time he also takes Keppra to control seizures. He continues to thrive and for this we are eternally grateful for the blessings God has bestowed on him.

About Alexander's Disease...

Alexander's Disease is a rare Leukodystrophy which is progessive and usually fatal. Reserachers have classified Alexander's into three forms 1) Early (infantile) onset, 2) Intermediate (juvenile) onset and 3) Late (adult) onset. The most common, usually most severe and almost always fatal variety is early onset. Diagnosis is usually made between birth and toddler years. Intermediate onset is less common and symptoms are usually seen between toddler and early teenage years. The most rare variety is late onset where patients are diagnosed as adults. Alexander's is a genetic disease but rarely inherited. Nearly all cases are a random act of nature affecting chromosome 17 (GFAP). It is confirmed by genetic testing and also MRI. For a more detailed, complete and accurate explanation go to www.waisman.wisc.edu/alexander/ or www.ulf.org/types/Alexander.html
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