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.
Adult Refsum Disease is an ultra-rare Leukodystrophy. Global DARE Foundation was recently founded to support individuals with Adult Refsum Disease. Our mission is to promote world-wide awareness and better quality of life for all who are diagnosed with Adult Refsum Disease. You can find out more about Adult Refsum Disease at our website: https://www.defeatadultrefsumeverywhere.org/ We are hosting our first conference in London on May 15, 2020. We can use help finding more patients. Please share with anyone that may benefit. We will also be at the United Leukodystrophy Foundation conference in June.