Reflections on this past year 2015

This year alone, I had a total of:

• 51 doctor appointments
• 21 physical therapy and occupational therapy appointments
• 5 MRIs (brain, cervical spine, thoracic spine, foot, and heart)
• 2 more surgeries (central line placement and liver biopsy) which makes a total of 9 so far
• 2 overnight hospital admissions
• 1 blood clot in my right cephalic vein
• 14 days of blood thinner injections
• 52 home care nurse visits
• 52 central line dressing site changes
• 3 sleep studies which showed worsening sleep apnea
• 1 skin biopsy
• 2 trips to San Diego to see my mitochondrial specialist in January and July
• 2 genetic tests (whole exome sequencing and a periodic fever syndrome panel)
• More than 150 tubes of blood drawn (thankfully, most of the blood draws were through my central line, so I didn't have to get poked for all of them :)
• 5 weeks of IV iron infusions for iron deficiency anemia
• 2 ER visits
• 2 electroencephalograms in June and August
• 1 pulmonary function test
• 1 modified barium swallow study/esophagram which showed esophageal dysmotility
• 2 EKGs
• 2 new medical diagnoses (Mitochondrial DNA Depletion Syndrome and Wilson's Disease)
• 1 jejunostomy feeding tube infection
• 2 multi-organ abdominal ultrasounds and 1 venous duplex ultrasound study
• 4 "24-hour" urine tests to check histamine and copper
• And more than 365 hook-ups to IV nutrition and IV fluids

I look at all these numbers, and I'm humbled by God's grace---I truly couldn't have made it through another hard year without the Lord's help.  He has been my Rock!  I'm reminded of the verse in 2 Corinthians 12---But He said to me, "My grace is sufficient for you, for my power is made perfect in weakness."  I was weak many times this past year, but the Lord made me strong (2 Cor. 12:10).

2016 is upon us...  It's always a little hard when a new year begins because of the unknown, but I know the Lord will give me courage to face whatever comes next!  Plus, He blesses me with such loving and supportive friends and family. :)  Thank you for staying on this journey with me!  I couldn't do this without you!

Happy new year, friends.  May we hold fast to the Lord and trust Him in everything these next 12 months---He is faithful!!

Saw this quote recently and wanted to share.  Perfect as we begin 2016!

Another diagnosis (and hopefully my last..)

Hello friends,

For those who didn't hear, my grandma passed away the day after Thanksgiving.  We had a beautiful service for her this past Saturday.  We all miss her so much. :'(  It sure is different not to have any more grandparents living.

On November 20th, my GI dr. called, and I got diagnosed with Wilson's Disease, also known as hepatolenticular degeneration.  He thought WD very unlikely, but you know me, I'm a puzzle. Wilson's disease is a rare, genetic copper overload disorder where the body lacks or has an abnormal copper transport protein due to two mutations.  This causes copper to build up in high amounts in the brain, eyes, liver, kidneys, and other organs.  The excessive copper causes damage (hepatic and neurological) and even failure of these organs if not diagnosed early enough.

The normal copper content in the liver is 10-35 mcg...my liver biopsy copper result from Mayo was 934 mcg....!  That's extremely high. :(  Also, my liver biopsy histological findings, though mild, are consistent with WD.

My GI dr. referred me to a hepatologist (liver specialist) for input on treatment, but unfortunately, this specific dr. is booked out until January 13th.  I do see my GI dr. this coming Monday, and we'll talk more about everything.

I don't know why I'm the one to end up with all these mutations and rare diseases (especially since, as far as we know, there's no past family history of these genetic disorders), but I won't stop trusting the Lord.  I am in His hands, and I know that the Lord will turn even this into good.

I do hope this is the last piece to the puzzle!  I'm not sure how many more diagnoses I can take.. :/  One of my friends told me I'm an age 18+ 20,000 piece jigsaw puzzle. lol  Mia, you always make me laugh. :)

Wilson's disease is known to cause mitochondrial dysfunction, so my doctors are wondering if this is a separate issue or related to my Mitochondrial DNA Depletion Syndrome.  I will ask my mito specialist when I see him in February. :)

Gratitude...a precious offering.

Hi everyone,

Just wanted to let you know that things medically are going ok with me, but my grandma (my only remaining grandparent) is not doing well at all and is in the last days of her life due to congestive heart failure. :(  It's been so hard to see her decline...the hospice nurse thought maybe she had 1-3 days left, but our grandma is a fighter and is still hanging on even though she has not had food or liquids since last Monday the 16th. :'(  She's in a drugged-up state and cannot talk or swallow, so the liquid morphine has to be rubbed around in her mouth.

I did receive my liver biopsy copper results back from the Mayo clinic last Friday.  My GI dr. called me, and it's not good news.  But I'll share about that another time.

Have a blessed Thanksgiving, friends.  Hold your loved ones close as things can change in the blink of an eye.

Love,
Kerissa

Pathology results

Hey friends,

My liver biopsy last Friday went very well!  Thank you so much for praying!  The doctors were able to obtain two specimens without complication.  After the biopsy, though, my kidneys took a hit that weekend, and I suddenly gained 4 lbs. of fluid. :(  We weren't sure what was going on and if this was a new symptom related to the mitochondrial disease.  Thankfully, they slowly recovered and I'm getting rid of the fluid!  My local mito specialist whom I saw on Tuesday suspects this was caused by the one of the drugs used for sedation during the biopsy.

Yesterday, my GI dr. called me with the initial liver pathology results (the copper results from Mayo aren't back yet).  Some mild inflammation was found in my liver but no sign of cirrhosis, hepatitis, etc.  That's good news!  He thinks the inflammation is from TPN (IV nutrition can damage the liver which is why it's not ideal).  Speaking of TPN, next month is one whole year of being on it!  Hard to believe.  I know there are big risks and it's only used as a last resort as my GI dr. states, but lots of blessings have also come as a result of TPN---I haven't had an ER visit for a "mito crash" in over 8 months (I used to have to go every 2-3 months!).  The IV fluids, amino acids, extra vitamins/minerals in the TPN have helped so much.  The nutrition has also prevented all the coughing/retching I used to deal with every single night due to a weakened esophagus.  It was horrible, and I hardly got any rest.  So I'm very thankful that went away. :)

Still working hard in physical therapy every week.  My mito specialist at Randall Children's thinks my "foot drop" (a neurological symptom) has improved somewhat. :)

This coming Monday I have another follow-up with my GI dr.  Hoping the Mayo results will be back.  I'm dying to know my liver copper level!  It never gets any easier waiting for results.. :(

Every single Wednesday, this huge stack of boxes gets delivered to our door.  I wonder what the UPS delivery guy thinks! haha ;)  The boxes contain all my IV nutrition, IV fluids, and central line supplies!

Liver biopsy

Hey guys,

Just wanted to let you know that my liver biopsy is scheduled!  My GI dr. put the order in as "urgent," so it's for this Friday the 6th.

This specific dr. performs complex image-guided biopsies.  He's only 13 years older than me (wow!), and yet, he's a Portland Monthly "Top Doctor." :)  Very thankful I'll be in good hands.  And in the Lord's!  A piece of my liver will be sent off to Mayo, and we should we getting results back the following week.

In addition to receiving TPN (IV nutrition) for 16 hours every night, I also now get infused with IV fluids every day for 2 hours.  *See pic below*  It's a cute little bag! ;)  It has extra sodium, potassium, and magnesium to try and raise my low blood pressure and prevent the painful muscle cramping I experience.

I will let you know what the biopsy results show!  I also see my mitochondrial neurologist at Randall Children's next Tuesday and will be sure to update on that as well.

Thank you so much for your prayers! :)

__________________

P.S. I thought this was so neat and wanted to share!  OHSU's fall newsletter came in the mail today, and this was the featured story. :)

Upcoming

Hey friends,

Here are the latest appointment updates for you. :)

Rheumatology--- The new rheumatologist I saw at OHSU is very nice!  She's not 100% sure that I have the periodic fever syndrome "Familial Mediterranean Fever" because I only have one mutation versus two (FMF is recessive).  But, 30% of patients with FMF only have one identifiable mutation anyways.  Soo, regardless of the genetic results, she's starting me on the standard FMF treatment to see if we can get these fevers to go away, and I'm to monitor my symptoms while on the medication.  It's a very small dose, but I started experiencing lots of achy muscle pain in my back, so I have to email my dr. about it.. :/

Gastroenterology--- I'm still dealing with horrible "charlie-horses" (muscle spasms).  I don't cry, but tears automatically come out of my eyes because the pain is disabling! :(  And they last minutes rather than seconds.  My GI dr. is adding more magnesium and potassium to my IV nutrition to see if this will reduce the frequency of them.  In other news, we are going forward with the liver biopsy to know for sure whether I have the copper overload disorder Wilson's Disease.  He is going to speak with my GI surgeon to see if she can do it.  If not, then interventional radiology will be doing the surgery.  Currently waiting to hear what the plan is.

Sleep Medicine--- Using BiPAP is going very well!  I now have less than 5 apnea episodes per hour (it used to be an average of 17 episodes per hour), and anything less than 5 is good!  I have been experiencing really bad nasal congestion at night, so my sleep dr. recommended I turn up the humidification settings on my machine.

P.S. I'd appreciate prayer for my grandma.  Her health has declined the last two weeks due to worsening congestive heart failure.  She's now under hospice care.  It's really hard to see her go through this, and she's my only grandparent left. :(  Pray that my family will be an encouragement and support to her in any way during this time.

Such an encouraging quote!

Thoughts on waiting.

Hey friends,

Tomorrow, rheumatology is getting me in for the Periodic Fever Syndrome, and I'm so thankful to the Lord that it's much sooner than January. :)  The appointment is at 1 PM.  Please pray that this specific dr. will be able to start treating it.  The numerous fevers are hard on my body, and I've been dealing with episodes of joint pain and inflammation since August.

I received my repeat 24 hr. copper test results, and sadly, the level increased from 77 to 106 in just a month (normal range is 3-50).  We have lots to discuss with my GI dr..  I see him this coming Monday.  I also have a follow-up with my sleep medicine specialist next week.

I will update after those appointments!

To end, I recently came across this little "devotional" I wrote years ago.  I can't remember if the homework assignment was to paraphrase a passage or an original composition.  I don't even recall when I wrote it (my bad for not putting a date!)...maybe it was after being newly diagnosed with Complex Regional Pain Syndrome (aka Reflex Sympathetic Dystrophy) or when I started dealing with all my other numerous rare diseases.  Nevertheless, I wanted to share it in hopes that it encourages you. :)

The Hardest Thing to Do

by Kerissa

          Wait.  Sometimes, this word can be the hardest to accept when in times of trial or tribulation.  There will be times when we ask with little faith, "Why do I have to go through this?" or "God, why am I suffering?"  What can be done about these questions when one is anxious for answers or does not know what path to take?

          Although waiting on God and humbling one's self can be the hardest thing to do, God states in His Word that His "plans...stand firm forever, the purposes of his heart through all generations."  We should not worry about anything because He always intercedes at the right time.  Psalms 27:14 says, "Wait for the Lord; be strong and take heart and wait for the Lord."  Complaining like the children of Israel did against Moses will do nothing.  Waiting in quiet patience and faith, even when under affliction, will bless God and make Him proud.

          If we accept our difficulties with humbleness, we will be able to say with confidence, "Now, Lord, not my will, but Yours be done.  I do not know what to do.  But I will wait until You drive back my foes.  I will wait, for my heart is fixed on You alone, O God, and my spirit waits for You in the full conviction that You will be my joy and my salvation, my refuge and my strong tower." ~Charles Spurqeon

          So wait on the Lord.  He really does hear our cries and prayers.  Know that God is always by and on our side.  In the end, we will all be able to understand why God placed those terrible thorns in our path, and someday we will thank God for the word "wait" in each of our lives.

Dealing with infection.

Oh I just can't catch a break. :(

Last week, I had to say goodbye to my home care nurse. :(  She changed my central line dressing site and drew labs at my house every single week for 9 months.  Long story short, the home health agency she worked with got bought by a huge company.  She didn't really like all changes involved, so she found a new job.  I'm going to miss her!  She was a very caring and compassionate nurse!

For the past week or so, I started experiencing severe pain, intestinal spasms, and other symptoms near my jejunostomy feeding tube.  The pain's been so bad that I wanted to go to the ER on Tuesday!  Thankfully, I was able to avoid going because my GI surgeon squeezed me in this past Wednesday.  She thinks I have an infection because the whole area is inflamed and bled a lot.  That would explain why I haven't been feeling super great lately.  She had to do a "needle and drainage" procedure right then.  That was so painful, and the needle was huge!  I've been started on 3 days of antibiotics.  If things don't improve soon, she wants to see me back.  She'll order more imaging like an abdominal ultrasound to look into this further.  Praying this gets better because the pain is horrible! :(

I had a total of 5 appointments this week.  Saw Cardiology, and my dr. is pleased to hear that the additional sodium to my TPN helps reduce the dizziness and high rates.  Still haven't had a chance yet to dissolve sodium chloride tablets and flush them through my tube, but hopefully next week!  I see him again in 6 months.

I met my new home care nurse yesterday afternoon.  And so far I like her---she's very easy going and laid-back! :)

The Periodic Fever Syndrome mutation I have is related to a rare auto-inflammatory disorder called Familiar Mediterranean Fever.  And the funny thing is, I'm not Mediterranean. lol  Basically, the gene MEFV is defective and can't regulate inflammation.  My rheumatologist spoke with his colleague to see if she can get me in sooner than January.  She said she'll look at her schedule and try to get me in asap.

I received a copy of my continuous video EEG report, and my neurologist noted that I have diffuse cerebral dysfunction and diffuse "slowing"...  Sounds lovely, right? ;)  Just another finding to add to my long list..

Continuing to rely on the Lord for His help because there's nothing else I CAN do.  He is my rock and fortress!

Unexpected

Hello friends,

Yesterday, I received some unexpected news.  A few months back, my hematologist referred me to rheumatology to get their input on why I'm still having persistent fevers.  I saw them end of July, and the doctor ordered an extensive genetic panel to test for all 7 Periodic Fever Syndromes that there currently are.  It was completed through the same lab that did my Whole Exome Sequencing.  Well, yesterday, my rheumatologist's office called and told me that a mutation was found.  *sigh*  I can't believe my doctors continue to find more and more mutations in my DNA. :( 

Both Hematology and Rheumatology thought it was unlikely that I have a Periodic Fever Syndrome to add to my long list of conditions, but you know me....I'm rare.  Mitochondrial disease is rare.  Ehlers-Danlos Syndrome is rare.  Complex Regional Pain Syndrome is rare.  Dysautonomia is rare.  And before all this, I never heard of any of these disorders!

My rheumatologist didn't tell me what exact PFS I have, but they are sending me the report.  He referred me to his colleague who specializes in the disorders.  Now, here's the sad part---this specific dr. is booked out until January...! :(  So, more waiting to do..  I was placed on her cancellation list in case any of her other patients cancel.

Still processing all of this.  But I know that the Lord has a good and perfect plan behind each and every mutation.  I know that I am fearfully and wonderfully made (Psalm 139). :)  One day I will have an answer to all of my questions!  But until then, I will continue to serve my Savior in any way I can. :)

On top of all this, we found out that my repeat 24 hr. copper results are still elevated.  This week, my GI dr. spoke with another copper expert at Yale.  He suggested we do a third 24 hr. copper test (hopefully my last!) the beginning of October..  If the results have dropped, then Wilson's Disease is more unlikely..  If they're still high, I guess we go from there..  I just want to rule it out once and for all!  And if I do have Wilson's, I'd like to begin treatment quickly before my brain/liver gets damaged..

Not much else happening. ;)  Still doing weekly physical therapy and occupational hand therapy.  I'm thankful for my therapists who work with me so much!

Once I receive a copy of the PFS results or hear back from my rheumatologist (I sent him a message today to get more info), I will let you know! :)  Thank you for continuing to pray!  It means a lot to me!

"But for you who fear my name, the sun of righteousness shall rise with healing in its wings..." ~Malachi 4:2

Repeat copper test.

Here are some updates for you all. :)  Thank you so much for continuing to pray!

The past two weeks, I started experiencing sharp pain in the ball of my right foot---it became very painful to bear weight on it.  I saw Orthopaedics, and the doctors think I'm dealing with something called metatarsalgia which is pain, swelling, and inflammation of the metatarsal bones/joints in the foot.  Thankfully, it's improving!  Ice and rest has helped. :)  The doctors also referred me back to occupational hand therapy because my right hand has been cramping up a lot again, even when I wear my splint that the therapist made for me.  I see them next week after physical therapy.  My left hip/leg muscles have also "shortened" a ton which is causing severe charlie-horses (muscle spasms) and an inflamed sciatic nerve.  So my therapist is working on this.

Using BiPAP at night has been going so well!  I'm tolerating it much better than CPAP. :)  I have a follow-up with my sleep dr. next month.

My neurologist called me yesterday with my overnight video EEG results...thankfully, no sign of seizures!  I'm glad I don't have to add another problem to my plate...the jerking I deal with daily is non-epileptic. :)  She said she still saw brain wave "slowing," but it's not constant which is a good thing.

On Tuesday, I saw my GI specialist.  We discussed how my 24 hr. copper results came back very high. :(  He wants to repeat the test, and if it's high again, he said we have to get a liver biopsy done. :/  He doesn't want me to have to go through that, but if the 24 hr. copper results are high this week, it's a big indication that I probably have Wilson's Disease, a genetic copper metabolism disorder that causes copper build-up in the body and damages the brain, liver, and other organs.  We'll hopefully get results next week..

The GI dysmotility has been really rough lately. :(  Soft food I eat is not moving well down my esophagus, and the abdominal distention and pain is lasting longer each day.

I've been on TPN (IV nutrition) for more than 8 months now..

I wanted to share a few pictures I found on ThriveRX's facebook page (a company that makes TPN).  I thought it was cool how TPN is put together!

Everything has to be sterile because TPN goes directly into the bloodstream.  This reduces the chance for sepsis (infection).

More tests to be done

Today, I saw my GI specialist.  It wasn't very good news.

I mentioned in my previous post that some of my lab work has been steadily dropping even with 6x the normal amount of IV copper in my TPN.  This past Friday, my GI dr. personally called me to talk about what may be going on.  He told me that he's going to get in touch with some doctors who specialize in copper metabolism diseases (a dr. in San Francisco and one on the East coast).

So this morning, he was able to connect with the dr. in SF.  This expert suggested looking into a rare metabolic disorder called aceruloplasminemia.  My GI doc researched it but doesn't think I have it.  So now he's going to call the East coast dr. to get his opinion.

In the meantime, he's ordering a 24 hr. copper test (he wants to avoid a liver biopsy as much as possible) to further look into a genetic disease that causes copper build-up in the brain, liver, and other organs.  Even if the results are "normal," that's a bad thing because that means copper is building up in my organs and not being removed by the body.  So, basically, the results will not be good regardless if they're "normal" or "abnormal."  We don't want either but it's going to be one or the other.. :/

It's hard to believe that my doctors are looking into yet another rare genetic disease to add to my long list, but these lyrics from one of my favorite songs by Michael W. Smith keep coming to mind:

Even what the enemy means for evil
You turn it for our good
You turn it for our good and for Your glory
Even in the valley, You are faithful
You're working for our good
You're working for our good and for Your glory

Give this beautiful song a listen. :)  It's so encouraging, and the words are profound!  I know that whatever happens, even if I get diagnosed with another potentially fatal disease, the Lord is sovereign!!

P.S. My GI dr. wonders if a small bowel transplant could help my GI dysmotility (out of curiosity's sake, he's going to look into it).  I'm sure it would never happen, but if it can help, that'd be amazing! :)

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

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

Hematology and sleep medicine visits

Yesterday, I had my first hematology visit at OHSU.  We found out (through lab work that my GI dr. ordered last week) that I have a copper deficiency which is known to cause many hematological and neurological issues.  So twice as much copper is now being added to my IV nutrition.  By the way, I've been on Total Parenteral Nutrition for about 4 months now with no end in sight.. :(

At this point, we don't yet know why I'm dealing with daily fevers, night sweats, and other symptoms.  My hematologist is looking into rare blood disorders and researching more.  He ordered lots of common and uncommon lab work.  By tomorrow, I will have had 8 tubes worth of blood drawn!

This afternoon, I saw my sleep medicine dr. for a follow-up.  I'm still dealing with fast breathing and shortness of breath.  I'm also very sleepy and not able to tolerate my CPAP.  So he's ordering another sleep study and something called a multiple sleep latency test.  He wants new data to see if I need BiPAP (bi-level positive airway pressure) now.  Unfortunately, they're completely booked, so I'm not able to get the studies done until June. :/

Here's some good news! :)  I mentioned last year how I was able to meet a neurologist at the mitochondrial biology conference at Seattle Children's.  She completed a mitochondrial medicine fellowship and is practicing at Randall Children's Hospital in Portland.  She's a pediatric neurologist but is now able to see older kids and adults at her mito clinic.  In February, my neuro-ophthalmologist referred me to her.  The referral process took 10 long weeks, but I received a letter last week saying that I can now see her!  This is a blessing from the Lord! :)  She's booked out, so the appointment isn't until May 26th.

Referral to Hematology.

Hi everyone,

Your prayers would be appreciated!  The past two weeks, I've been feeling worse than usual...very sleepy especially. :(  To be honest, I just feel plain crappy, and whenever that happens, the CRPS always ramps up---the nerve pain has been really bad lately.  I'm still pale and short of breath as well.

We found out that my white blood cell count has been dropping (it did go up a little bit this week, but it's still not my normal), so my primary care physician is referring me to OHSU hematology.  We're not sure if this is mitochondrial disease-related or if something new is happening.  She wanted the soonest appointment available, so it's scheduled for next Tuesday the 21st.  I see God's goodness in this---the hematologist I'll be seeing is another Top Doctor.  He's nationally renown, and even my GI dr. has heard of him. :)  I'm just so blessed to have a knowledgeable and caring medical team for my complex case!  And it makes this rough journey a little easier, knowing that I'm in good hands.

I had another follow-up with my GI specialist this afternoon.  Unfortunately, I still haven't noticed any extra energy with the IV iron infusions, so he is ordering a bunch of different labs to see if I'm deficient on certain minerals while on TPN.  He's also ordering a carnitine panel.

I tried tube feeds last week at 10 mls per hour, but after receiving just 16 mls, I felt sick to my stomach and got super distended.  So I have to decrease to a rate of 5 mls----that's one teaspoon per hour..!  That's not enough to live on, so I still have to receive TPN and lipids.

I will be sure to update next week after the hematology and sleep medicine appointments.  The Lord is my hope and strength! :)

This is what iron looks like.  My GI dr. said 5 small bags of this is equivalent to receiving about 8 pints of blood!

GI update

Hello everyone!

Thanks for stopping by and for your continued prayers. :)  I'm so blessed!

Haven't felt up to blogging in a while because the iron deficiency anemia makes me ever so tired, short of breath, dizzy, and pale.

I've been needing to breathe fast as well which makes it hard to use CPAP at night.  I messaged my sleep dr., and he called me back.  He really is the sweetest and so kind! :)  He's the co-medical director at the OHSU sleep program and a Top Doctor.  Can you believe this---he's booked out 4 months!!  He thinks a lot of new things are going on with me sleep-wise, so he's having his office double-book to squeeze me in April 22nd.  He wants to order more tests and re-evaluate.  He's astonished that I have to sleep 16 hours a day. :(

I had a good follow-up with my GI dr. last week.  He always spends so much time with me...very thankful for a doctor who cares. :)  For the anemia, he is having me receive IV iron infusions once a week for 5 weeks to bring my blood counts back up.  He warned me that the iron looks like motor oil....that's gonna be interesting. lol ;)  Some patients experience body aches as a side effect, but I hope I tolerate it well.

Still receiving TPN every day for 16 hours, but my GI is having the TPN volume/calories decreased by 20%.  We are going to introduce j-tube feeds again at a very slow rate of 2 teaspoons per hour.  And we'll be using the elemental (broken-down) tube feeds formula.  Not sure yet how this will go as I still deal with hypoactive abdominal sounds, etc.  But I'm game to try!  I see my GI specialist again to follow up on this in 1 1/2 weeks.

This morning, I had my cardiac MRI.  It's different---they have to capture the images according to each heart beat, and you wear EKG leads and a respiration belt.  During the scan, I was told to take a deep breath, blow it out, and hold for 10-15 seconds....this cycle repeated over and over again!

Tomorrow I have an orthopaedics follow-up, and Friday is my first IV iron infusion at the hospital.  After that, I'm done for the week!

To close, I wanted to share this with you.  My sweet aunt emailed this to me recently, and the words are so encouraging!  And perfect for this Easter! :)

Cardiac findings and ENT update

Hey friends,

Thank you for checking in and for your continued prayers!  So much keeps happening, and this journey just gets more and more complicated.. :/

But this I remember: the Lord fights my every battle, so I will not fear.  He goes before me and never forsakes me!

Some of my blood counts have been steadily dropping since December, and I'm now anemic.  That and low grade fevers every day hasn't been fun.  My primary care physician ordered a bunch of labs, and we found out that I'm very deficient on ferritin (even while on TPN).  I should hear soon what the plan is for that.  And, I see my GI dr. next Thursday for a much needed follow-up.  If the ferritin deficiency is not what's causing the anemia, then my PCP will be referring me to Hematology.

Last month, my cardiac electrophysiologist referred me to General Cardiology to discuss my recent heart echo results.  That appointment was this past Monday.  The dr. went over the echo images and explained that the wall of my descending aorta (in the abdominal area) is very irregular and "jagged" which is not normal.  It's supposed to be smooth.  She's not sure what to make of this and whether it will cause problems, so she ordered a cardiac MRI to investigate this further.  This will be my 17th MRI scan...

Today I had a modified barium swallow study, esophagram, and ENT follow-up.  Long day!  The results of the two tests show that the movement (peristalsis) of my esophagus is very slow....food and pills I swallow get stuck and don't move down well from my mouth to the stomach.  This is called esophageal dysmotility.  My ENT dr. isn't surprised that I have this because I've already been dealing with small intestinal dysmotility and large intestinal dysmotility....my whole GI tract is affected. :(  This is because there aren't enough mitochondria in my GI tract (caused by the mtDNA depletion).

I had these two tests done last year, and my ENT dr. compared them.  Things have worsened since then.  Unfortunately, we won't know what will happen a year from now..

Mitochondria are in every cell!  That's why mitochondrial disease affects SO much.  It's not just a muscle disease or heart disease....it affects the intestines, muscles, heart, brain, autonomic nervous system, eyes, and anything else you can think of that requires energy!  I recall hearing a talk by a mito specialist in LA, and he explained that "energy is the difference between life and death."  Many people often say I look so normal...that's because mito is a disease that affects at the cellular level.  Anyways, enough of my rambling....just want to raise awareness. ;)

Every time my doctors discover more and more that's wrong inside my body, the only thing I can do is rest in the Lord.  He has a good purpose in every single thing that happens!

"You go before me every step I take..."

Hey everyone. :)

This past Thursday, I had a neuro-urology follow-up.  I tried two different medications for my neurogenic bladder, but both caused awful side effects.  So at this appointment, my doctor discussed what needs to be done.  It looks like I may have to have surgery #9 this year in order to protect my kidneys/bladder.  She recommends this be done sooner rather than later.  It involves neuro-modulation (the spinal cord stimulator that I had implanted for CRPS pain back in 2011 was a neuro-modulation device).  So this surgery is very similar---it corrects the abnormal signals in my brain and helps the sacral nerves in my spinal cord.  We won't be making the final decision, though, until after I see my mito specialist in June.

My neurology appointment today went well.  I updated her on all that's been going on.  I've been dealing with an increase in shock-like muscle jerks, and she explained that they could be caused by many things, one of them being seizures..  If the movements worsen, she'll have me get an EEG (electroencephalogram) to try and pin-point where these are coming from.

Regarding the low-grade fevers I experience that come and go, I'm to monitor them.  If they reach beyond 100.1 degrees, I have to let my PCP know to get this investigated further.  My neurologist said fevers can be caused by numerous conditions, and she believes they're not from dysautonomia.

TPN overall has been a blessing.  But, it also causes something called fluid shifts which result in very painful charlie-horses!  I had over 20 long-lasting muscle cramps (sometimes each last up to 10 minutes long) all over my body yesterday.. :(  My GI dr. is continually trying to lessen these by adjusting the TPN infusion rates, but lately, this issue seems to be getting worse.  I have another follow-up with him in a couple of weeks.

Yesterday, my pastor shared this passage from 2 Corinthians.  It's a familiar section of Scripture to many, but hearing it again was so encouraging.  This has been on my heart:

"So [I] do not lose heart.  Though [my] outer self is wasting away, [my] inner self is being renewed day by day.  For this light momentary affliction is preparing for [me] an eternal weight of glory beyond all comparison, as [I] look not to the things that are seen but to the things that are unseen.  For the things that are seen are transient, but the things that are unseen are eternal." ~2 Corinthians 4:16-18

Another ER visit and more appointment updates.

Hi friends,

This past Monday evening, I started dealing with 100 degree fevers, severe nausea, and headaches.  So my mom called my GI doctor who recommended that we head back to the ER to get blood cultures drawn in case of a line infection.  Can't catch a break, and ER visits always wipe me out. :(  We spent over 8 hours there---the ER was jam packed!  The doctors ordered labs, IV dilaudid, and zofran.  The meds helped a lot.  Thankfully, they couldn't find signs of infection in my blood, although blood cultures do take a couple days to come back.  They came to the conclusion that this was either a virus or the dysautonomia (autonomic nervous system dysfunction) that I deal with on a daily basis---my body could now be having trouble regulating temperature..

We got home after 6 in the morning on Tuesday, so I've been so exhausted!  I did have two appointments yesterday with my surgeon and a new ENT dr.  I had a lot of granulation tissue growing at my j-tube site, so my surgeon used more silver nitrate sticks to burn it off.  The ENT visit went well.  I had a laryngoscopy done---one of the doctors inserted a scope down my nose to look closely at my swallowing muscles and voice box.  My ENT dr. noticed that all the muscles in that area have atrophied a lot, so he thinks this may be what's causing my chronic cough/swallowing issues.  He ordered another modified barium swallow study with x-ray to be done in 3 weeks.

Here is some good news: I am now off both blood thinners!  I'm so thankful. :)  I had a follow up with the anti-coagulation clinic at OHSU on Monday, and the nurse practitioner consulted with one of their hematologists.  They all agree that I've been treated long enough for this type of clot.

I have a lot of upcoming appointments next month with Neuro-urology, Neurology, ENT, and GI..  This week has again been rough, but I strive to keep my eyes fixed on Jesus and not on all these continuing problems.  One day they will end! :)

"Days have come, days have gone
I know one thing’s sure
Hanging on by the words of Your promise, Lord
You are good, You are true
Even in my pain

And I’m thankful for this suffering
‘Cause it’s brought me right here on my knees...."

~partial lyrics from Perfect Love by Jeremy Camp

Never a dull moment.

Hi friends,

Just an update for you!  For those who don't know, I had to go the ER yet again this week. :(  My PICC line site was red, hot, and swollen, and I was experiencing low grade fevers when my home health nurse visited last Thursday and when I saw my GI specialist this past Tuesday.  He feared a line infection and wanted it to get pulled.  So Wednesday I was told to go to the ER.  When the doctors and nurses know you, you've been there too often...... :/  They drew blood cultures and labs to check for infection and ordered an ultrasound to rule out clots in my upper arm.  And guess what----a clot was found in my cephalic vein!  That's one of the complications when you have a central line.  They admitted me overnight in the ER observation unit for IV fluids and potassium because my potassium levels were low.  They also pulled my line and started me on two heavy duty blood-thinners to prevent it from traveling to my lungs and causing more problems.  Yesterday morning, the PICC team came by to place a new line in my left arm.  I was also taught how to give myself anti-coagulant shots twice a day....not pleasant. :(  This certain drug burns horribly!

Today I had a follow-up with my cardiologist.  We discussed my recent heart echo results, and he is going to consult with another cardiologist because they found thickening of my aorta (that was a surprise because it wasn't there on my two previous echos!).  Also, they found a mobile mass in my right atrium, but he thinks this is congenital and shouldn't cause problems.  Still, that was another surprise since it wasn't found there before!  I am a puzzle, and I keep my doctors on their toes. lol ;)  My cardiologist is also going to get in touch with my GI specialist next week to see if more sodium can be added to my TPN because my high heart rates, dizziness, and heart fluttering has been getting worse.

Monday I have an appointment at the anti-coagulation clinic to get labs drawn and see the doctor there.  And Wednesday, I have surgery to get a central line placed in my chest!  They wanted to do this soon to prevent a clot from happening again.....but who knows, I'm not the typical patient. ;)

It's been crazy hectic, and my arm where the clot is still doesn't feel well yet.  But I continue to trust the Lord and persevere!  He is good.

Thank you all for your love and prayers!

P.S. A famous mito specialist from Ohio came to speak at OHSU the same evening I was in the ER.....the ER docs were so kind to let me go to it since the lecture was literally just down the hall! :)  It was very informative.  I was able to ask the mito specialist about my mtDNA depletion results.  He looked over the report and told me that my depletion is 99% which is very high....no wonder my GI tract is so affected. :(  I really hope these results and the ones pending will help me be eligible for a future clinical trial!

My new PICC line right after it got placed :)

More Results.

Hey everyone,

As I mentioned in my previous post, my mito specialist wanted to check for mitochondrial DNA depletion.....well, those results are back.

And guess what---the results do show that I have a mtDNA depletion!

It's not very good news because this means something is depleting the number of mitochondria in my body, and all organs/cells need a normal amount of mitochondria to function well.  I wasn't expecting these results at all, but I am still so thankful to the Lord for more answers to all my numerous conditions/symptoms.  This depletion may be why my GI tract in particular is in such bad shape and why I can't tolerate j-tube feeds and solid food.

Since this genetic test came back abnormal, my mito specialist is currently going to hold off on the fibroblast super complex assembly testing and electron transport assays analysis.  He wants to see if the whole exome sequencing will pinpoint which gene mutation is causing the mtDNA depletion.

Speaking of whole exome sequencing, it looks like the test will be started next week!  A national phlebotomy service is coming to our house this coming Monday to draw my blood (my mom's as well) to send off to the lab.

On Tuesday, I have a follow-up with my neuro-ophthalmologist to once again check my optic nerves and make sure the external ophthalmoplegia in my left eye is stable.

Wednesday, I have another appointment with the pain team at OHSU, and Thursday, the home health nurse will be coming again to change my PICC line dressing.

The following week, I have my 4 scheduled MRIs (brain, cervical spine, thoracic spine, and right foot)....I have to spend over 4 hours in the MRI tube. :/

I also have follow-ups with my GI specialist and Cardiology, so it will be a busy next couple of weeks.

Anyways, I just wanted to check in and and share these results with all of you!

Kerissa

P.S.  Here are some pictures that I took of San Diego. :)

Beautiful Seaport Village

Taken from the plane when we were heading home

So neat seeing how close San Diego is to the ocean!

Another view of San Diego

Mito appointment update 1/20/2015

Hi, everyone!

Well, the appointment with my mito specialist is finished.  Lots of things to process now, but here's the rundown:

1. My dr. agrees and notices that I'm getting worse medically..  It's only been 6 months since I last saw him, and he already sees a difference.

2. As I mentioned in the past, more than one thing is going on...the mitochondrial cytopathy (which affects all the cells in my body....this is not just a muscle disease) and spinal cord/nervous system abnormalities---worsening left sided weakness, foot drop, and something called "mirroring" which is not good at all.  Basically, when I grip or squeeze my right hand, my left hand does the same thing and mirrors my right hand...it's not nice and pretty creepy. :/  In children, this can be normal because their brain is still developing, but since I'm 22, something's wrong and my brain is not suppressing this "action."  This indicates a decline in my brain/spinal cord function.  He ordered more brain/upper spine MRIs to again check that everything is fine structurally.  Hopefully I can get those done with the pending foot/ankle scan.

3. Regarding results, one mutation found in my muscle (and blood) keeps coming up.  So my dr. is zero-ing in on this because it has never been found before in genetics.  What's puzzling, tho,' is that my mom has it in her blood and she's asymptomatic.  So, this may or may not be "it."  He's ordering more tests to check the number of mitochondria that I have (to rule out mitochondrial depletion disease).  He's also sending in my skin fibroblasts that were biopsied in June to analyze my mitochondrial super complexes.  That biochemical test he wanted done to check electron transport assays is still pending in New York....what's worse is, it may not have even been started yet...they're looking into this now. :(

4. At my last appointment with him, he mentioned that we may need to resort to Whole Exome Sequencing which looks at over 30,000 genes (2% of my DNA...!).  He is going ahead and ordering that test....it takes approximately 24 weeks to be completed....ugh. :(

5. I can't stress this enough---mitochondrial medicine is soo complex.  Mito can be caused by the structure of the mitochondria....it can be caused by the function of mitochondria....that's why doctors have to look at the biochemical side of mitochondrial disease, they have to look at the electron transport chain and the five complexes, they have to figure out if it's primary versus secondary mitochondrial disease (secondary is caused by genes outside of the mitochondria that affect mitochondria!), and the list goes on.  Complicated, right? :/

6.  You probably want to know about treatment. :)  Well, all potential drugs are still undergoing FDA approval or going through Phase 1 or 2 trials.  Soo, that will be a while before I can possibly go through one.  In the meantime, my mito specialist is adding more supplements to my "mito cocktail."  He also wants me to take creatine, and I really pray that can help my energy level because I've been needing to sleep 15-18 hours a day lately!

I hope I answered any questions you may have! :)  Thank you for taking the time to read through all this.  Also, I haven't been able to reply to some of your emails yet, but I just want you to know that I'm so grateful for your prayers!

Next month, I have a lot of follow-ups with GI, neuro-ophthalmology, cardiology, etc.  Plus, I have to get all those pending MRIs done.

I thank God for all of you who are on this journey with me! :)

Kerissa