Results are back

Ryder's Lumbar Puncture results are back and all negative. The bad news is that some of these tests could have been caused by an issue that could have been treatable. So really we are still no closer to knowing an exact diagnosis. The next step is a muscle biopsy in Atlanta, Georgia. As of now, Les and I both agree to hold off on doing this. I feel it is to invasive and we may not get any answers from that either. If I remember correctly, the muscle biopsy is to rule out more forms of Leukodystrophy like MLD, which is the direction his neurologist is going now. However, over a year ago the doctors believed it was PMD or PMD-like disease. There are over 45 forms of Leukodystrophy and testing is very expensive. About 50% of individuals with Leukodystrophy never find their exact form of the disease. Over a year ago Ryder, Les and I had blood test to have a full genome sequencing test done. It was finally funded a few months ago. Now, instead of the muscle biopsy, we have decided to wait for the results of the sequencing. It could be awhile since it is very complicated and ours aren’t the only ones the doctors are working on. I wouldn’t be so persistent about getting an exact diagnosis if it weren’t for our other two sons. Leukodystrophy is genetic (in most cases) and it has a variety of onset ages from birth to adult. Our older sons may possibly be carriers and their future children could be affected. There is also the possibility that they may also have the disease without any symptoms yet. I worry sometimes about Noah having Addison’s just because he is so much darker skinned then the rest of our family. I think and hope it is just my mind wandering to the what- if’s though. Ryder’s GI appointment was last week. Build-a-Bear donated bears with GI tubes and one was given to Ryder, how sweet is that?! Ryder loves it!! GI issues seem to be the most trouble for Ryder. He still has an upper BM blockage that hasn’t been relieved by miralax, little tummy stimulants or enemas. The doctor is talking about an inpatient clean out now. It may help him feel better. His intestines are very weak (which is common in a lot of kid’s w/Leukodystrophy). Because his intestines aren’t able to squeeze out bowels, it just keeps backing up and when he does have a bm with help of all his medicine, it just pushes around the blockage instead of softening it and allowing him to pass it. (not sure if that makes sense?!) Anyways, we will keep bringing Ryder to his appointments and working with the doctors and therapist, but as of now, we will live every day to the fullest and hope to have answers one day…