The Long Awaited DNA Results: Part 1 (because the whole report is 13 pages long..!)

Kerissa • Oct 01, 2013

Okay, here are the nuclear mitochondrial exome sequencing results!  BEWARE!!  The following may be a little technical..😉  And I’m still trying to process things myself.

I wasn’t expecting them to find so many mutations!  23 were found in all….!  That’s horrible.. :

You want to hear something a little scary?  The lab found a mutation in the RYR1 (ryanodine receptor 1) gene which is associated with things like central core disease , minicore myopathy with external ophthalmoplegia , and malignant hyperthermia which can be fatal.

So the medical director of Courtagen (Dr. Boles) said I “am at risk for malignant hyperthermia , including potentially serious/lethal complications under anesthesia.”

Wait till my pain dr. (who is an anesthesiologist) hears about this!  Dr. Boles wrote that “it is prudent to consider this patient (me!) as affected with MH.”  He said my parents and siblings should be considered to be at high risk of developing MH as well until proven otherwise.

I also have a mutation in the GARS (glycyl-tRNA synthetase) gene which can cause things like Charcot-Marie-Tooth disease , distal hereditary motor neuropathy , and other disorders like those.  My variant, P.K102R, is “rare and predicted to be damaging by algorithms of protein function.”

One of Courtagen’s physicians will be contacting me hopefully by tomorrow to further discuss the report.🙂  I have a lot of questions!  The dr. even forwarded my questions to Dr. Boles—I’m excited to see what he says!

Part 2 of these results will come soon..

😉
By Kerissa Lee 23 Jan, 2024
Hi, friends, I had a whole other post ready to go with some good news, but instead, I have an urgent prayer request. I started experiencing sudden onset numbness, tingling, and weakness in my whole left leg, and it’s been so scary. 🥺 It just came on out of the blue. I was doing so well with physical therapy each week (able to walk fast on the treadmill and leg press 40 lbs), and now, I have to limp because my left leg is soo weak. I really want to avoid the ED as much as possible, so I saw one of my doctors today. She’s concerned I’m having a big motor nerve issue. 😭 The plan is to see a physical medicine specialist, have a nerve conduction study, get an urgent MRI done, as well as see my PCP and pain doctor on the 25th and 29th for further evaluation/testing. I know I already said this, but it really has been so scary to lose function so quickly. Can you pray that I will trust the Lord and not worry? It’s been very hard, so I’d really appreciate your prayers and support in the coming weeks. Thank you so much. ❤️
By Kerissa Lee 01 Jan, 2024
"Let us know; let us press on to know the LORD; his going out is sure as the dawn; he will come to us as the showers, as the spring rains that water the earth." Hosea 6:3
By Kerissa Lee 11 Dec, 2023
"This hard place in which you, perhaps, find yourself, is the very place in which God is giving you opportunity to look only to Him."  Elisabeth Elliot
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