Diary of a Work-from-home Dad no. 19: “Moment of Truce”Finally, the moment of truth. Aft
Diary of a Work-from-home Dad no. 19: “Moment of Truce”Finally, the moment of truth. After a year of living with Prader-Willi Syndrome diagnosis, Dalya’s bloodwork revealed that she has a totally different gene deletion and condition all together. I couldn’t express in words how I felt in that room to hear that it’s an even rarer case than PWS, or at least if there were similar positives, they were undiagnosed.What is Smith-Magenis Syndrome? It’s just crazy what the absence of ONE tiny genetic material called the RAI1 can impact an entire function of the human body. You have 99% of the components to make a human but you’re operating without that little project manager telling your body how to run in order. I’m barely scratching the surface but this is based on our own experience raising Dalya so far… All speculations can be put to rest.The doctor didn’t impart any informative explanation upon dropping the bomb other than therapy. As soon as I left, I sat down for a good moment to look up online and educate myself before breaking the news to Sara, and the rest of my family afterwards.Drop a tip via Buy Me a Coffee or keep up-to-date with works in progress by pledging on Patreon -- source link
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