Long overdue appointment updates.

Hello friends,

I'm sorry it's been so long since I last updated.  This month has been crazy full of appointments!  On top of that, my older brother got hit by a car (not his fault) when he was riding his motorcycle on the way to his work two weeks ago. :(  The Lord is so good---things could have been way worse.  My brother was life flighted to one of the trauma hospitals in Portland, but we're so thankful he didn't have any severe internal damage.  He did have a broken collarbone, 5 broken ribs, lung contusion, and other injuries.

It's been really fun having him stay at our house to recover!  We play games and watch a lot of movies together. :)

Anyways, here are some updates on my July appointments:

Cardiology- My cardiologist wants more salt added to my TPN for my low blood pressure and tachycardia.  11 or more grams to be exact!  That's a ton of salt but it's needed for these heart issues.  He spoke with my GI specialist.  Unfortunately, adding that much salt would require a big increase in my IV fluids to balance everything out, but I can't tolerate more than a liter at a time because of my neurogenic bladder.  Soo, my GI specialist is conferring again with my cardiologist to see if I can instead crush salt tablets and flush them through my jejunostomy feeding tube.

Sleep Medicine- July 2nd I had my 4th sleep study.  They put BiPAP on me.  Everything went well until 5 AM that morning when I woke up with horrible stomach pain and distention!  Apparently, I started experiencing something called aerophagia, probably due to a weak esophagus.  BiPAP air went down my esophagus and into my stomach because the valve covering the esophagus didn't close fully.  We are still going to try BiPAP again at home, starting this coming Monday.  Please pray I can tolerate it (there aren't really any other options for my sleep apnea).  My sleep dr. also ordered my 2nd pulmonary function test which was completed yesterday.

Gastroenterology- My blood copper level is still dropping dramatically by the month, even though I'm receiving 6x the normal amount in my TPN.  My GI dr. said this shouldn't be happening.  My ceruloplasmin level (related to copper) is also low.  He's now running more tests and checking for another bad genetic disease.  I hope I don't have it. :(  He also plans to add more dextrose (sugar) to my TPN because I've been dealing with frequent low blood sugars...it dropped to 54 at one time.  I see him again in less than 2 weeks.

Rheumatology- Yesterday my rheumatologist took a very detailed history of all my symptoms to try and get to the bottom of these daily fevers I experience.  He ordered more genetic testing. :(  He wants to see if I have a genetic Periodic Fever Syndrome.

Hematology- Today I saw my hematologist.  If that copper genetic disease comes back negative, he thinks my low copper issues are related to my Mitochondrial DNA Depletion Syndrome.  Copper is vital for proper function of Complex IV in the mitochondrial electron transport chain.  He also ordered more labs to check my red blood cells and make sure I don't have the blood disease that came up on my Whole Exome Sequencing results.

I had to have 8 tubes of blood drawn today..

Physical therapy- Last week, I started up weekly PT visits again.  The muscles in my legs are extremely tight which causes balance issues and exacerbates my muscle weakness.  So my therapist wants to work on these problems and strengthen my core.  The CRPS pain has been flaring up with all of this, so my legs have been aching and burning so much. :(

Phew!  As you can see, a lot has been happening.  But we all continue to press on.  The Lord is sovereign and good! :)  He has been with us every step of the way.

Thank you so much, Mrs. E, for this beautiful bouquet of flowers!  They make me smile, and I look at them often as I spend a lot of time in the living room.  That was so thoughtful of you to think of me since I couldn't partake of your yummy dinner with my family.  Love you! :)

*long* update and whole exome results

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