*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

More test results

Hey guys,

Last week, I received my sleep study and EEG results!

Compared to my sleep study in 2013, things have worsened sleep apnea-wise.  The results show that I stop breathing an average of 17 times per hour.  No wonder I'm so tired. lol  The longest length of time that I didn't breathe well was 50.6 seconds.  The sleep data also shows that my heart rate shoots up to 147 beats per minute multiple times throughout the night.  We're not sure what causes that---I do see Cardiology next Wednesday.

My sleep dr. wants me to go back to the sleep lab.  He put in an order for CPAP settings to be calibrated and titrated to see if I can tolerate it better.  If not, he mentioned again that we may need to switch to BiPAP.  This 4th sleep study is scheduled for next Thursday, July 2nd.

My EEG results show something called brain wave "slowing."  This is abnormal and can be caused by numerous things.  I hope to ask my mito specialist what this means in relation to the mitochondrial disease.  My neurologist said this may be partly why I experience cognitive issues.

I'll be admitted again sometime in the future to get an overnight EEG completed.

Next month alone, I have a total of 14 appointments. :(  It will be busy!!  My parents and I also leave for San Diego next Saturday for my mitochondrial appt. on July 7th.

Lastly, we received my blood copper level back again.  It dropped even more which is not good. :(  My GI dr. is now having 6 times the normal amount of I.V. copper added to my TPN....that's a lot!!

Thank you for checking in! :)

Unexpected

Oh what a crazy past two weeks it's been.

Last week, we found out that my whole exome sequencing results aren't in yet (and wouldn't be completed by the end of this month) even though the test was started the first week of February.  Btw, the laboratory I'm getting the test through is not affiliated with UCSD Medical Center.  So it's not UCSD's fault this time. ;)  For those who've been following the blog a long time, you probably remember something similar to this happened last year..

Anyways, back to the story....we had all our plans made---lodging, airfare, and the scheduled June 23rd appointment with my mito specialist.  The clinic coordinator told us the appt. would need to be postponed.  Talk about stressful!  She also explained to us that my mito dr. is booked out until October.  Disappointed and sad by this news, we knew it would take a miracle for me to get in sooner than October.  But like ALWAYS, God is faithful and in control!  He is good.

Long story short, one of my mito specialist's other patients took my June 23rd appointment, and I was able to take their scheduled July 7th appt. which is just two weeks after the 23rd! :)  One of the representatives at the lab double-checked with the director and all the PhDs who will be putting together the interpretation to make sure that the test will be finished by the 7th.  And they said it will. :)

True, we have to change our flights and lodging, but it could have been a lot worse!  So I'm thankful.  I do hope nothing like this happens again!

This past Monday, I had my 3rd sleep study to check up on my breathing and sleep apnea.  And all day Tuesday, I had my 1st multiple sleep latency test (this one was torture because of what it involves) to rule out narcolepsy and other hypersomnias.

Wednesday, my home health nurse came to draw labs from my central line and change my line dressing site (she comes every single week).

And today, I went through my 1st EEG to rule out seizures and pin-point where the myoclonus is coming from.  I had electrodes placed on my head 3 times this week alone.  Not pleasant! :/  Hope to get sleep study and EEG results by next week.

picture of my brain waves :)

Finally, my hematologist called me last week.  He ordered another test to further check into this certain myeloproliferative disorder, and he also referred me to OHSU rheumatology to get their perspective regarding my daily fevers, etc.  The rheumatologist I'll be seeing is booked out, so the appointment is not until July 27th. :(

That's about all for now! ;)  If you made it to the end of this long update, you're awesome! ;)

Neurology and GI visits

Hey guys!

On Tuesday, I saw the neurologist at Randall Children's.  She's the doctor who went through a year long mitochondrial medicine fellowship up in Seattle.  It was a good appointment, and she's really nice. :)  I'm so blessed to now have a doctor who will take care of all my mito issues locally.

I mentioned that I've been dealing with worsening myoclonus (muscle jerking)---it can be brainstem related, spinal-cord related, or from the muscles.  It could also be from seizures.  So she went ahead and ordered a standard 30 minute EEG which is scheduled for June 11th.  If it's normal (it often is because it's such a short study), she'll look in to admitting me for a longer EEG at the hospital.

She's also going to write up an ER protocol letter for whenever I have a "mito crash."  She'll explain what type of IV fluids I should receive, what meds to stay away from, etc.  I'm sure the letter will be really helpful for the ER doctors!

Today I saw my GI specialist.  He's going to decrease the TPN fluid volume/calories again because the amount I'm currently receiving is still too rough on my neurogenic bladder, and I'm now at a good weight. :)  If I start losing weight again, then he said we'll have to go back up on the TPN.  We also discussed how I may not be able to get off of it if the stomach/intestinal issues don't improve.. :(

In one and a half weeks, I have my 3rd sleep study and 1st multiple sleep latency test.  The exhaustion has just been getting worse. :(

In other news, we leave for San Diego in 23 days!!

Update 5/20/2015

Hi friends,

A short update for you---thank you for praying for me and my family. <3  Things still aren't going well.  Abdominal pain and distention has been coming back with a vengeance.  I continue to deal with daily fevers (it went up to 101.6 one time) and lots of other symptoms.  I've had 13 tubes of blood drawn so far just for lab work ordered by my hematologist.  He's going to be out of town the rest of this week but plans to call me next week to go over results, etc.  Not sure if something will be found at this point.... :/  I wish I wasn't so complicated. :(

To make matters worse, I have a sore/growth on my arm which has been getting bigger and leaking/crusting a ton.  I saw dermatology yesterday.  They're not sure if it's a lymphangioma or what, so they wanted to do a biopsy of it.  The results should be back next week.  When the doctor left the room, he told the resident, "That was unusual!"  I don't like being rare. :(

We also got my blood copper level back, and it dropped once again, even though I'm on twice as much IV copper in my TPN.  Go figure!  I mentioned before how copper deficiency can cause numerous neurological and hematological issues which is probably why I'm still dealing with bad headaches and nerve pain every day.  My feet have been burning so horribly. :(  Next Thursday, I have a follow-up with my GI specialist.  I also see neurology (the local mito specialist) at Randall Children's this coming Tuesday.

P. S. In exactly one month, my parents and I leave for San Diego for the third time to see my mitochondrial disease specialist!

This journey's been rough, and all I can do is be strong, take heart, and remember that the Lord fights for me!

Waiting

Hi guys,

Just wanted to check in and let you know that I'm hanging in there!  Haven't posted an update in a while because I'm waiting to hear from my hematology doctor again....he called last week and wanted me to keep a record of my fevers every 2 hours so that he can look at the pattern and decide on further work-up.  He plans to touch bases with me on Friday..  Not going to go into details yet, but something new is going on as well and it doesn't seem very good.

Last week, I finished my 5th IV iron infusion....now we watch and see how my blood counts do.  I'll also be getting my copper level checked again in a couple of weeks to see if I'm still deficient.

Still not tolerating tube feeds or solid food, so I continue to remain on IV nutrition.  I will be trying a "blended real food" tube feeds formula soon to see if I can tolerate that.  The elemental formula I'm currently on is even more broken down than the blended food formula, so we're not sure how this will go..

I saw the pain team this afternoon.  I've been dealing with bad headaches every day, and the CRPS nerve pain in my feet is worse because of not feeling well.  So they came up with a good plan. :)  I will be increasing one of my pain meds to twice a day, and if that doesn't help, they'll have me try a different narcotic analgesic---it's safe, non-addicting, and would be given at a very small dose. :)  Thankful for my doctors!  They're so sweet and always decide on the best and safest route for me!

P.S. My etsy shop (www.etsy.com/shop/BeautyInItsTime) hit 105 sales this week!!! :D  And I'm currently putting together a custom order for someone which will be my 106th and 107th sale. :o)  I love making jewelry for people. <3