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Maria Kefalas
Aug 2, 2017

We just got home from CHOP


We were admitted Sunday, got home Monday night. Cal developed a lump on her tailbone. I knew it was not a bedsore since we are really careful to move her a lot. On goofy doctor asked "Did you drop her." Can I say, I wanted to drop him after such a goofy question. And, when we texted Cal's doctors, they were worried it might be the sign of some sort of infection. So we went to the hospital and kind of had to argue with the ER folks that we didn't want to put Cal under for an MRI since we were confident that the ortho consult had revealed a problem with x-ray and her ongoing problems with curvature of the spine. No matter how wonderful the doctors are, you have to remind them that Cal is not like other kids. An IV or putting her under or any other kind of intrusive procedure puts her all out of whack and when you go in for a GI issue or an ortho consult, next thing you know you are in-patient for a week getting all manner of tests. It's hard to explain to doctors who want to fix everything that Cal is not going to have ideal urine maintenance or eat as much food as the nutritionist wants her to. It's been five years since Cal was diagnosed, and when I meet new doctors unfamiliar with her case, I have to tell them that Cal will tell us what she wants and needs and we need to listen to her, not impose what we want. It always is a little hard to explain to young residents that we want her home and comfortable, that's what matters most to us. I had to explain to a very serious, earnest doctor just yesterday; "You guys have to understand you can't fix everything, we just want the best it can be," I felt like I was destroying her fantasy of what doctors are supposed to do.

Aug 2, 2017

Prayers for you all! We get the same thing here at our local hospital. They've never even heard of it and have no idea how to handle a child like Jordyn. We've become very loud advocates and hope to educate them all the more we see them. I totally understand where you're coming from and hope you get/got some answers.

Dawn Hess-Knecht
Aug 3, 2017

We always have to educate our doctors on our special kids. I Love CHOP but even they make mistakes celiac daughter was given Goldfish crackers in recovery after her MRI 2 weeks ago . Even though she had a bright red allergy bracelet on for gluten allergy. It was a teaching moment for sure .

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.

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