This is Ruby! She is a Rare Ruby. She was diagnosed with a rare form of Leukodystrophy called H-ABC. There are less than 100 people diagnosed with this neurodegenerative, debilitating brain disorder. She was only 16 months old. Since then, we’ve been trying to spread awareness like wildfire. We made her Facebook page, bracelets, t-shirts, and we entered Ruby into a beauty pageant! We stay busy in other ways too, like her 5-6 appointments every week! Participating in research at CHOP is also a hobby of ours! Ruby faces many challenges daily, but we never miss an opportunity to inspire, educate, and support others! With a smile on her face and a giant support group in her corner, there’s nothing she can’t do! Meet A Rare Ruby, Miss Spirit, and Tiny Toddler Miss Pennsylvania, a true fighter!
My son will be 3 yo in october and was diagnosed with spastic diplegia/CP about 2 months ago. Peds neuro ordered MRI to look for signs of CP and there turned out to be white matter injury worrisome for metachromatic leukodystrophy. He has always met his milestones aside from gross motor, primarily with balance and unsteady gait when walking. He does not jump or run but he seems to climb well. Fortunately at this point, he has not shown any regression of skills. Genetic tests are pending. If the tests are negative, has anyone ever encountered being told their child has leukodystrophy and it actually turned out to be CP? Thank you for you responses and support and God bless