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Mindy Hoffman
Aug 3, 2017

Meet A Rare Ruby


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!

Maria Kefalas
Aug 3, 2017

Thank you for this great post, Ruby is just beautiful. And, I would be happy to share my experiences with fundraising to help you in your work.

Maria Kefalas
Aug 3, 2017

We hope you and your family can be our special VIP guests at the Cupcake Challenge on Saturday, September 16th. We would love to meet Ruby and see how we can support you guys. Lots of great families attend.



Dawn Hess-Knecht
Aug 3, 2017

It waa so nice to meet you and Ruby last month ❤

Mindy Hoffman
Aug 3, 2017

We will look into the event!!! We'd love to come!

New Posts
  • wrwoodar
    Jul 20

    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
  • April Garcia
    Jun 3

    I received a phone call 2 weeks ago from the Seating and Mobility Clinic asking if Jackson (our son) needed to make an appointment to have his adaptive stroller refitted. I told the representative that Jackson had Krabbe Disease and that he wasn’t with us anymore, that we had not been able to be with him since October of 2016. The representative apologized and said “I hope he is getting the care he needs” and we ended the call. Once I hung up I realized that due to my brokenness and inability to verbalize exactly where Jackson is I lead the representative to assume due to the Krabbe Disease that we were no longer able or willing to care for Jackson and that he was being cared for by someone else. I immediately called back and luckily got the same representative and explained that Jackson transferred to heaven and even though that information would not change anything within their company that I could not allow any misunderstanding that we ever gave up on Jackson or that we voluntarily let him go. The representative gasped with new understanding and offered heartfelt condolences. I hung up and let loose a silent soul shaking cry for 2 full minutes before returning back to work.
  • Maria Kefalas
    Jul 29, 2018

    Most days, the grueling routine of caring for a child with leukodystrohy takes a toll. But then, there are organizations and people who can make this journey just a little easier by seeing the beauty of kids with leukodystrophy and welcoming families into their home. The Philadelphia Eagles (and the amazing Julie Hirshey, the director of community relations for the Eagles) have been champions for kids with leukodystrophy and the Calliope Joy Foundation from the very start. We are so proud to host our biennial gala in 2019 at Lincoln Financial Field. And, we were thrilled to learn that the Eagles were hosting our friend Kendall, who has metachromatic leukodystrophy, at this year's Eagles training camp. This photo sums up the amazingness that the Eagles make possible for families in our region. We could not be more proud to work with this incredible organization. Thanks to Cindy Williamson for sharing this photo. Yah, that's Super Bowl MVP Nick Foles with our friend Kendall and her mom Cindy and pop-pop Stanley.

Together, We are stronger

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