Oct 1, 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..

This Friday, I see neuro-ophthalmology again.  In 2 1/2 weeks, I have my scheduled spinal tap!  My pain dr. told me he can do the procedure, and I’m so happy!!  We have fun together, even if it’s for things like lumbar punctures, nerve blocks, and surgeries.. 😉
Post written byKerissa

This post has 6 comments

  • Whoa! I see you have gotten quite the technical vocabulary now haha. But those are some intense illnesses =/. I hope your near future appointments figure things out to reduce the risk of those, or to avoid them if possible. I'm not sure if you have heard of Joni Eareckson Tada, you probably have. But She definitely can share your struggles, and shes super funny. In one book she describes the New Jerusalem, " A huge, radiant, translucent, impossibly beautiful cube floating over New Earth, measuring fifteen hundred miles in each direction and flashing like a great diamond in an ocean of light. And I can say with confidence that there won't be one wheelchair ramp or set of instructions in Braille or handicapped parking space in the whole city! In Fact, if there's a fifteen-hundred-mile spiral staircase fromt he lowest level to the top, I'm going to run it every morning– before breakfast!" – Joni. Haha i love this, she is so honest and bold in her words. I'm glad we can look forward to that new city. (Two more quotes!) "If God sends us on strong paths, we are provided strong shoes" – Corrie ten Boom, "He has chosen not to heal me, but to hold me" – Joni Tada. Hope you get contacted tmr by a physician!

  • Hi John!! Haha, yep, the sequencing results are prettyyy complicated.. 😉 Joni Eareckson is such an inspiration!! Thank you so much for those awesome quotes by her! Loved them!!

    Yeah I hope so too! So far I haven't heard anything.. : The doctors are either super busy or still trying to figure things out! Waiting is soo hard.

    Hope school's going well for you! I don't know if you've heard of CLEP (almost all the universities/colleges I know of give CLEP credit), but anyways, I'm studying to take CLEP tests so that I can receive college credit that way and get my general ed out of the way. 🙂

  • haha, but yeah shes always inspiring. I'm really sorry no news has arrive yet =/.

    I actually have never heard of that before. But i looked it up and seems like a great opportunity, that should be pretty exciting! I'll be ready to read updates surrounding school, and all the new information you will learn! And I'll be praying that you enjoy studying hah, cause thats the hardest part for lots of people.

    I always love to read psalm 30:5. Great verse filled with hope, "weeping may stay for the night, but rejoicing comes in the morning." over and over and over. Just if you haven't heard the verse in awhile or don't know it!

  • Aw, thanks!! Haha, I actually miss school.. 😉 So studying for CLEP tests has been fun!! I'm currently studying Biology…love it!

    That verse is 100% filled with hope. 🙂 Thank you for sharing! God is so good to give us so many promises.

  • Studying and fun in the same sentence?! I guess i'll same that prayer time for myself……… haha just kidding! but glad you like it and I'll be praying these 5-6 weeks will go by fast, and that you would have supernatural patience and Ammmmmen! God is good = )

  • Aw thank you so much for your prayers!! You're awesome. 🙂

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