Are You A Medical Exception?
A Medical Scientist uses Genome Sequencing, Microbiome Analysis and Dissecting the Medical and Scientific Literature to Shed Light on Difficult-to-Treat Diseases
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Gene Mutation Can Cause Permanent Brain Damage After Concussion Parents should determine whether their child has this mutation before starting contact sports
My primary motivation for creating this blog is to educate people so they will find out whether they or their children have this mutation, which can be easily determined with AncestryDNA or the new 23andMe kit. But first, I’ll tell you about the gene . . .
How To Determine If You Have My C3 Mutation (rs147859257)
The two cheapest tests that query the single nucleotide polymorphism (SNP) in Complement Component 3 that we’re interested in are AncestryDNA (regularly $99, but you can find occasional sales as low as $59) and 23andMe ($199 for health & ancestry, $99 for ancestry alone, often on sale for less) . . .
Which Diseases Might Be Associated With My C3 Mutation?
Since learning I had this mutation (rs147859257) in Complement Component 3 (C3), many people in my family have tested their DNA to determine whether they share it as well. From analyzing which diseases and conditions people with the mutation have or had and excluding...
Who am I?
For most of my life, I’ve been “The Medical Exception,” a patient doctors couldn’t figure out. Antibiotics rarely cured my infections, and my body’s reactions to drugs, allergens and inflammation didn’t fit the norm. With a problem-solving background in Bioengineering and an MD/PhD, I’ve uncovered the causes of varied health issues over the years and want to share what I’ve learned with the many other medical exceptions out there.