Unique Genetic Disorders
Kim and Scott discuss the challenges of dealing with a unique genetic disorder, emphasizing the varied outcomes and the need to support their child's individual journey. Despite struggles with feeding and swallowing issues, their daughter continues to surprise them with her resilience and progress.In this clip
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Related Questions
My 2-year-old son has a rare genetic disease called Prader-Willi syndrome. I know that there is already a certain cell dysfunction since the proteins necdin and MAGEL2 are malfunctioning. I find it difficult to just wait and sit there while knowing that the biggest symptom that is coming is hyperphagia. Since it is neurodevelopmental, I always ask myself if there is not a certain deficiency that installs slowly and then leads to hyperphagia occurring.
We are contacting you about our 19-year-old daughter who has been diagnosed with SIBO, many food allergies/intolerances, and possible celiac. Her symptoms include a bloated, full feeling after eating small amounts, extreme fatigue, brain fog, depression/anxiety, and continual congestion, among others. We are currently under the care of a functional medicine practitioner who has her on a very restrictive diet, supplements, and homemade yogurt that has specific bacterial cultures. We have seen small improvements and some minor gains. She has had tons of lab work panels drawn, etc.