THIS IS MY STORY . . .

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Jul 8, 2015
Today, I had a follow-up with my mitochondrial disease specialist in San Diego to review the whole exome sequencing results!
They found about 100,000 variants in me, but they only can report the mutations that they think may relate to my symptoms..
Unfortunately, we still don’t know what gene mutation(s) is causing my Mitochondrial DNA Depletion Syndrome (my depletion is high and very significant….not good).  This means I currently can’t get into a clinical trial because a mitochondrial molecular abnormality was not found as of yet…sad news, but my mito dr. told us to not be too disappointed since this certain trial is still in the early stages and only 5 days long.  In a couple years or so, he believes it will be open to all patients and not just those with a molecular confirmation.
What we do know from the WES (whole exome sequencing) findings is that I may possibly have a couple other diseases in addition to mito.  I have a gene mutation that causes a neurological disorder called Charcot-Marie-Tooth Syndrome.  To confirm that I have it or rule the disease out, I need to get another nerve conduction study/EMG.
I also inherited a gene mutation from my mom and one from my dad which can cause a certain recessive disease that destroys red blood cells..  My mito dr. wants my hematologist back at OHSU to look at my red blood cells under microscope to see if I have the condition.
Regarding all the other variants found that may or may not be what’s causing the mtDNA depletion (science and medicine is still catching up), my dr. will be submitting my WES findings to this mitochondrial disease database.  All the mito specialists involved will be studying my WES report and all the other mito patients’ WES.  They’ll look at my variants and compare it with other patients.  If they find common mutations and same clinical symptoms between us patients, they can make a NEW diagnosis!  In the mean time, we just have to keep waiting..
A dr. going through a mitochondrial medicine fellowship (he was at my appointment and helped answer questions) put on by Children’s Hospital Colorado is getting in touch with a geneticist at Baylor who researches GI dysmotility.  If this geneticist is still enrolling patients, I will be having blood drawn to help him research this condition!
I also had 4 tubes of blood drawn today at UCSD to check certain labs and again look into why I deal with daily fevers and a copper deficiency.
In other news, I’m to stay on my mito cocktail of supplements (since that’s the only “treatment” available for me).  And I have to see my mito specialist again in January to go over fibroblast super complex assembly test results and everything else..
That’s basically the gist of today’s appointment. 😉  When we get home, I have lots of appointments this month with GI, Sleep Medicine, Hematology, and Rheumatology (I already saw Cardiology and went through a 4th sleep study on July 1st and 2nd….will update about those appointments later).  I’m also starting up physical therapy again.  All this is on top of my weekly home health nurse visits to get central line dressing changes/blood draws!  Phew!
Thank you for reading! 🙂  I hope I answered any questions you may have!
Kerissa
Post written byKerissa

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