Just HAD to share! :)

Wonderful news---my Cincinnati trip this December is a go!!  Thanks be to God, the GI motility disorders team has fit me in on their schedule!  I'm SO happy. =)  Originally, this was thought to be impossible because they are booked out till mid-January and they could only see me if my GI dr. here did a hospital-to-hospital transfer.  But, 4 days ago I spent an unexpected weekend in the ER for severe esophagus pain and swallowing issues, and I lost another 2 pounds....  So my GI specialist here in Portland spoke to the Motility disorders medical director at Cincinnati Children's regarding these worsening issues, and by the grace of God, Dr. K is squeezing me in on his schedule, and he already booked the OR for all the testing he wants to do.  Before I leave for Ohio, Dr. K wants me to have 4 or so additional GI tests done here before Thanksgiving.  This is gonna be a super busy 2 and a 1/2 weeks!!

This is the plan:

On Dec. 3, I first see Pulmonary Medicine.  After that appointment is the consult with Anesthesia (for the GI procedures), and then I see Neurology.

Wednesday through Friday (and possibly Saturday), Dr. K will do his extensive GI procedures, and I think they're admitting me to the hospital for all of this.

Saturday evening (Dec. 7th) is my tentative 2nd sleep study.  Last night, I started CPAP for my sleep-disordered breathing, and if I don't notice any benefit with CPAP, then the doctors at CCHMC will have me try BiPAP at this 2nd sleep study.

On Monday the 9th, I see Cardiology (consult for dysautonomia), and afterwards, I have an Orthopaedics appt. with the Spine Center for the chronic spine pain I've been dealing with.

Wednesday is my appointment with Human Genetics---I'll be seeing their genetic counselor and mitochondrial disease specialist.

Thursday through Friday is left blank in case any of these doctors want additional testing..

And on Saturday, the plan is to head home! :)

Thanking the Lord for His goodness,

kerissa

This Passing Tide...

Yesterday, I saw my physical medicine dr. for a 4-week follow-up on my spine pain.  Sadly, physical therapy hasn't been helping, and Dr. C thinks this chronic spine pain is related to my muscle weakness (from the underlying neuromuscular/mitochondrial issue).  So he referred me to the Spine Center at Cincinnati Children's for a second opinion when I'm there in December.

Lately, I've also been having issues with swallowing/choking (in addition to weak chewing muscles), so Dr. C put in an order for speech language pathology here and possibly a swallow study.  He wants to speak with my geneticist in Ohio about this new problem in case I need to see Speech there, too.

Regarding my GI system, I've lost 4 pounds in two weeks..  If this keeps continuing, I'm going to hit 78 lbs. very soon!  I did get referred to GI at CCHMC, and the team is currently reviewing my records/referral.

Yesterday, I had a horribly long episode of nystagmus, and it made me want to pop my eyeballs out to stop them from oscillating uncontrollably. :(  I really hope Neurology at CCHMC will be able to help this issue..

To make matters worse, I've been having cognitive problems---I often have trouble recalling what verb tense to use when I'm emailing or texting my friends, and I'm forgetting certain details. :(  This is related to the CHAT gene mutation that was found in the mito-exome.

As you can see, I'm not doing that well.  But I am reminded that I can do all things through Christ who strengthens me! :)  Thank you, Lord, that I have You to lean on!

I've been super busy getting all these appointments lined up in Ohio!  It now looks like we'll be there for about 2 weeks (and longer if necessary).  My parents and I leave for Ohio in only 3 1/2ish weeks..!

Many blessings on your week,

kerissa

 "These sufferings, this passing tide
under Your wings I will abide,
and every enemy shall flee;
You are my hope and victory."

~lyrics to Praise the Father, Praise the Son

Upcoming Trip.......

I don't really want to go into the gritty details, but this has been a hard week physically. :(  Long story short, my mitochondrial disease appears to be progressing..
 
Not knowing what will happen next symptom-wise always keeps me on the edge of my seat.  But, I am encouraged that, when all else fails, Christ remains faithful.  Thank you, Lord, for your unending grace!

Up until a couple months ago, traveling back to Cincinnati, Ohio wasn't in the "plan."  But here I am, planning another trip back.  This December.  My geneticist has referred me to Genetics again (but this time to see their mitochondrial specialist), Pulmonary Medicine, and Gastroenterology (Motility Disorders Program).  I've also been referred to Cardiology and am hoping to get appointments with Spine Medicine and Neuromuscular as well.  This will be the whole deal.. ;)

Hopefully after I see this mito specialist, I can begin "treatment," including the "mito cocktail."  For my TRAP1 gene mutation, Dr. Boles through Courtagen said that aggressive antioxidant therapy can be helpful, and I look forward to starting that.

Even though this Ohio trip is in the works, I still hope to see that mitochondrial specialist in San Diego.  But I'm not sure if or when that will be..  Especially since my spinal tap results are still pending. :)

Your prayers for wisdom would be appreciated!  Pray that I would patiently endure and not be focused on all my symptoms all the time.

love and hugs,

kerissa

Well, that wasn't too bad! :)

Thank you, all, for your prayers this morning!!  My lumbar puncture is now behind me!  God is so good!  Everything went extremely well, even better than I was expecting---my pain dr.'s awesome and so funny.  He sees countless patients, yet he still remembers my full name and birth date/year.  I found out today that my birthday is 8 days after his. :)  You want to know something else funny?  We both have double letters in our first and middle names!

The procedure hardly hurt at all!  Can you believe it?  Maybe it's because he's an anesthesiologist (my first spinal tap last year was done by a radiologist, and it was oh so painful)... 

Dr. S drew 5 tubes of cerebrospinal fluid, and he used the smallest needle to decrease the risk of a post-dural puncture headache.  Because the needle was so tiny, the fluid only came out one drop at a time. The flow got slower by the minute, so he asked the nurse to tip the table a little bit. ;)  Not sure when I'll get results back because one of the labs needed is so specialized---the laboratory told him they're going to try and figure it out.  Haha!

Medical Updates

This past Friday, I had a follow-up with Dr. F, my neuro-ophthalmologist.  She's so so sweet!  The external ophthalmoplegia (weakness/paralysis of the eye muscles) in my left eye is stable at the moment which is great news! :)  For those who don't know, my left eyeball can't look to the left very well at all which isn't much fun...but there's not a lot that can be done for treatment, so she just wants to keep monitoring it.

I still get nystagmus (fast, uncontrollable movements of the eyes) every now and then, but thankfully, I can keep it at bay as long as the migraines aren't too bad and I get adequate sleep. :)

For 3 weeks now, I've been having horrible spine pain, and I have no clue what started it.  So my physical medicine dr. squeezed me in today.  So grateful!  He ordered two x-rays of my thoracolumbar spine, and the images show that I have some multilevel degenerative disk disease.  One problem after another...I sure feel older than 21........lol. ;)  The spine pain may also be from the underlying mitochondrial and/or neuromuscular disorder.  So Dr. C ordered more physical therapy, and I have a follow-up with him in 3 and a 1/2 weeks.  If things are no better by that point, then he'll possibly order more imaging studies like an MRI.

This coming Wednesday is my spinal tap at 8 AM!  I'd appreciate your prayers!  My pain dr. told me I'm at increased risk for a post-dural puncture headache, so we'll see how bad it is the second time around..  Thank you all for your continued love and support! :)

The Long Awaited DNA Results: Part 2

The following two mutations are ones that are likely related to my mitochondrial disease:

• Courtagen found a mutation in the CHAT gene (choline O-acetyltransferase).  Dr. Boles said my genetic variant in CHAT might contribute to the complex disease picture in (me).
• The second mutation was found in the TRAP1 (TNF receptor-associated protein 1) gene.  My genetic variant is in the ATPase domain of the protein.  These mutations are thought to "predispose towards disease due to defects in antioxidant defenses."  People who have variants like these have chronic fatigue, pain (now I know why I have Complex Regional Pain Syndrome! :), and G.I. dysmotility.  And I deal with those three symptoms..

Dr. Boles said CHAT mutations respond favorably to anticholinergic esterase inhibitor treatment, and he also wrote that TRAP1 mutations can respond favorably to aggressive antioxidant therapy.  That's great news!

In addition to the GARS and RYR1 mutations that were found, I mentioned in Part 1 that Courtagen found 19 other possible disease-causing mutations.  This makes my case even more challenging..  I know I've said that before, but just in case you forgot.. ;)  I could possibly have a polygenic disease from multiple variants combined.

So in order to figure out what variants are likely causing my "disease," Dr. Boles wants my mom and dad to be tested.  Courtagen is sending saliva kits to my parents, and their tests will be completely free of charge. :)  This laboratory is amazing!  Their tests will help Dr. Boles with my test interpretation.  This is going to take another 5-6 weeks..  My patience sure is being stretched.. lol

So in the meantime, stay tuned! :)  We're SLOWLY BUT SURELY making progress!

One of my friends shared this quote with me recently, and I thought it was just perfect!!

 "If God sends us on strong paths, we are provided strong shoes" - Corrie ten Boom

The Lord has been so faithful---He provides me with everything needed for this wild ride of a journey.