Genome Sequencing
Has anyone had a doctor suggest having Genome Sequencing done to solve a mysterious health problem? Those of you who have followed my posts know I call myself a “Freak of Nature”. That’s because of all the rare and very rare health problems I have. My pcp agreed to give me a referral to a geneticist to see if they can figure out what’s going wrong inside me. I met my Dr on January 11th 2023 and he did a thorough history of me, my family and relatives. Out of 40 things, we have or had 25 of them, from cancer, to heart problems, brain tumors, blood disorders, etc. After our information portion, he seemed very interested in me and all my heath problems I suffering with.
He asked me if I wanted to do Genome Sequencing, even if they found I was going to have a rare cancer that would kill me, I said I would. So he had me swab the inside of my cheeks and then because of my unusual body chemistry, he ordered a WGS. That stands for “Whole Genome Sequencing”. Because I’m so unusual, the WGS will check all 3 billion cells that make up the entire DNA inside the human body. Since cells divide and make copies of themselves, each cell will be checked for any defects. Like the 4 defective cells that caused me to have a defective heart, blood, immune system & small bowel. Because the sequencing is so complicated, it will take 2 to 3 months to complete, even using computers. My question to the forum, has anyone had genome sequencing done? Did they find any surprises? @becky1024
Interested in more discussions like this? Go to the Blood Cancers & Disorders Support Group.
becky1024 @becky1024 keep us up-dated
I have 9 rare disease/ disorders (some of them are life threatening). New diagnosis is that I have blood and bone cancer thanks to my genes. Hope you find answers. Let us know, it takes time to find out the answers! A good doctor is as rare as the diagnosis! The hard part is trying to figure out which symptoms go to which diseases. Oh, unsolved mysteries