Getting admitted this week.

Hey everyone,

I just wanted to let you know that I will be getting admitted the day after Christmas.  I'm very thankful for my GI dr.---he's working at the hospital and not in clinic all this week, but he arranged and coordinated everything so quickly!  I'm not doing very well.  The pro-motility drug I've been taking hasn't helped at all, and it's getting harder to tolerate oral intake.  All my back muscles have been getting weaker and forming tight, painful knots to compensate---my physical therapist said it's because my muscles aren't receiving enough nutrition.  I've had to sleep past 2 pm every day now because I've been so tired.  All this and more is going on, and yet, I look so normal on the outside!

On top of all that, I still cough and gag all day and night.  We wonder if my secretions are going down the wrong way and ending up in my lungs.  I got the overnight oxygen testing completed last week, but we won't get results at the moment because my sleep dr. is out of town these last two weeks of December.

We're not sure how long I'll be admitted.  But I'll keep you posted!  Everything is up in the air regarding how long I'll be on TPN (IV nutrition), etc.

I hope all of you have a blessed Christmas!  I'm so thankful for you and your steadfast prayers.

P.S.  I thought this was so neat!  Last week, CNN wrote an article, and here is part of what they said: "We know parents whose children are in remission from cancer and others whose children have mitochondrial disease. Their dream present would be an end to childhood disease. Give to their causes if your family is lucky enough to be untouched by serious illness."

More tests and referrals.

Hi everyone,

We thought this week would have been my scheduled admission to the hospital since I haven't tolerated glutamine, but we're trying one last thing to re-mobilize my small intestine.  My GI specialist really wants to avoid TPN (he recently told us he has two critical patients in the hospital because of sepsis from being on IV nutrition).

I'm to take an antibiotic at a low dose for 10 days---this specific antibiotic can help the motility of the small intestine.  It doesn't benefit everyone, but he just wants to exhaust all options.  If I don't notice anything, then the plan is to get admitted to do a tube feeds trial and/or TPN (but it's always possible he may think of another option..).  I'm still losing weight and feeling bad, so 10 days seems so long. :(  I just need to keep waiting on the Lord.  I know His timing is perfect.

Still gagging and coughing, too, especially at night.  It wakes me up from sleeping. :(  Very thankful for my sleep dr.  He even emails me back on the weekends or late at night (btw, he made Portland Monthly's Top Doctors list for 2015 again! :)  He will be referring me to Pulmonology and also ordered overnight oxygen testing which will be hooked to my CPAP and done this week.

Today I saw my physical medicine specialist because I've been dealing with something called "foot drop" (can be seen with many neurological disorders).  It makes me trip when I walk around in our house.  He ordered an ankle-foot brace which is similar to the kinesio tape that my physical therapist used on me in the past.  It helped a lot, and I look forward to using the AFO brace!

My dr. also referred me to his colleague who is a foot and ankle surgeon.  Not planning to have foot surgery, but I'm not sure if the lymphangioma in the bottom of my foot (I had it surgically removed in 2010) grew back because the "bump" looks bigger to me and hurts a lot.  Dr. C isn't sure what type of MRI would be good to order for this specific problem, so he is referring me.  Lots of appointments in the future! :/

Worsening problems.

Hey friends,

I'd appreciate your continued prayers!  My small intestine is in bad shape.  Still can't tolerate j-tube feeds or solid food orally.  And I'm now getting distended with just liquids... :(  The dysmotility in my small intestine has gotten so much worse.  Mitochondrial disease is horrible!  I'm being followed very closely by my GI dr.  We've been trying a lot of different things, but none have been helping.  He wants to exhaust all other options before we move on to TPN (total parenteral IV nutrition) which is always a last resort because it comes with many risks and complications, including sepsis (blood infections).

I'm to try an amino acid called glutamine for 4 days to see if it will help the mitochondria in my GI tract.  And we're also trying another tube feeds formula since the elemental one wasn't tolerated well last week.

If these last things don't help, then we're moving on to TPN.  I'll have to get a central line placed and be admitted for the start of it for monitoring, daily lab work, and hourly blood sugar checks.

I'm so thankful for my GI specialist!  He's even trying to get in touch with my mito specialist in San Diego.

Today I saw my pain dr.'s colleague, and she is so sweet! :)  I'm so glad she can keep in touch with him.  The whole pain center misses him a lot!  If I have to start TPN, I'll be seeing the inpatient pain service at OHSU to receive ketamine infusions for CRPS pain control.  The CRPS has been flaring up because I'm not getting enough nutrition.  I'm also dealing with daily headaches and low blood pressure again from lack of food..

On top of all this, two weeks ago I started dealing with forceful coughing bouts to the point that I gag and retch. :/  I'm not sick, though.  We're not sure if something lung-related is going on now.  See how bad mito is? :(  I emailed my sleep dr. today to see if he can refer me to pulmonology.

Next week, I will be getting my j-tube changed yet again to a different-sized mic-key button.  And I also have a follow-up with cardiology to go over the holter monitor results.

I continue to press on---the Lord's got this! :)  And like always, He carries me through the roughest of times.

Good news and bad news.

Hey friends,

We got the CT scan results yesterday!  The images showed that I had something called Buried Bumper Syndrome (a rare complication with feeding tubes)....basically, the balloon on the j-tube (which is inflated with 1 ml of water to hold it in place) got stuck in my abdominal muscle.. :-O  No wonder I am dealing with pain and spasms!  So my GI surgeon's office got me in that afternoon.  I've been having appointments every day....I'm tired to say the least.  My surgeon pulled the tube out and replaced it with a temporary balloon-less tube to let the area heal.  And she'll later switch it to a different size in 3 weeks.  We're still not sure if this will resolve all issues as my GI specialist said there may be more than one thing going on, including the motility issue.  But at least we can take care of this specific problem now.

Because I'm losing weight again, my GI dr. is going ahead and starting me on an elemental tube feeds formula which is more broken down and usually easier for patients with dysmotility to tolerate.  I see him again in 12 days!

Today I had urodynamic testing (super thankful that's out of the way!), and the results aren't good..  My nervous system is not working well at all, and she thinks this is from a cerebellum issue and/or a spinal cord problem (which my mitochondrial specialist suspects as well when I saw him back in June).  My specific bladder issue is hard to treat, but she is starting me on a medication....sometimes it works and sometimes it doesn't.  If it doesn't help, she'll re-evaluate and go up the ladder from least invasive to invasive.

Now for some good news---more of my muscle was found which means the mitochondrial DNA testing can be started as soon as my insurance approves it! :)  If all that goes well, I have a tentative appointment with my mito specialist in San Diego on January 20th!

The first week of December, I have GI, an appt. with my pain dr.'s colleague, and physical therapy.  So I will be enjoying next week off! :)

Have a blessed Thanksgiving next week!

Love,
Kerissa

More tests.

Hi friends,

Some of you on facebook know how I had to go to the ER yet again last week for a lot of issues....I was also admitted overnight in the ED observation unit for IV hydration and pain control.

It's been crazy rough and hectic as I've had to keep going back and force between GI and Surgery to figure out what's going on---not feeling well and still dealing with intestinal spasms, abdominal pain, and intolerance of j-tube feeds (see previous posts for more info).  Well, I saw my main GI dr. today, and it was a productive appointment. :)  He's so awesome like always.  He ordered a stat CT enterography scan which will be done tomorrow at noon!  Please pray that this will give clear answers or at least help narrow things down..  He agrees that something is going on....I'm a puzzle to him..  I have to drink a lot of contrast for the scan...hopefully it's not too unpleasant!

I also have extensive urodynamics testing this Thursday which will be another long day.  After that, I don't have any more doctors appointments, Lord willing, all next week! :)  That will be a nice break before December which is filled with a lot of follow-ups.

Thank you for checking in!

Love,
Kerissa

Rough.

Oh what a week it's been..  Thankful for my Lord and Savior who is always there for me in these challenging days.

A couple weeks ago, I started dealing with bad spasms in my small intestine and not being able to tolerate j-tube feeds---this is still going on today.  The spasms cause my mic-key button to pop out partly over and over again.  I haven't been able to eat solid food without a lot of pain, so I'm currently on a soft food diet.  Last week, I also started experiencing dizziness every single day and night...it was horrible and I just felt unwell.  Whenever I had doctor appointments, my blood pressure was checked each time and the numbers kept getting lower (my lowest recording was 80/62 and I'm usually 113/80ish).  No wonder I didn't feel well!

Nothing was resolving, and last week, both my GI surgeon and GI specialist were out of town.  My GI surgeon's resident squeezed me in---he thought maybe the "balloon" on the j-tube had too much water in it, but there was only 1 ml in it.  So he wasn't sure what was going on.

This past Monday, the dizziness bothered me so much and I was dehydrated.  Two nurses at both GI clinics said I should go to the ER to get IV fluids and labs done.  Also, when I finally heard back from my GI dr., he wanted me to get an x-ray with contrast dye to check tube placement.  So I spent 9 hours in the ER Monday evening.  They gave me a whole liter of IV fluids and pain medication, and that helped a lot. :)  The ER docs consulted with the blue surgery resident team for the spasms/tube issue.  After I had the x-ray, the surgery residents studied the images and came to the conclusion that the j-tube was in the right spot and had not migrated.  They believe that the dizziness was from dehydration and not getting enough nutrition.  Regarding the spasms issue, they think it's from small intestinal dysmotility---not good news.  But they're leaving this up to my GI specialist to figure out.  We were able to connect with him, and he is not entirely sure---it could be dysmotility or an ulcer near the feeding tube..  He's starting me on an anti-spasmodic to see if that will help me tolerate solid food and tube feeds.  He also mentioned I may need to once again switch formulas.  I have a follow-up with him in 2 weeks.  I'm also waiting to hear from my GI surgeon if I need to have my mic-key button changed to a different size to see if that could help resolve some of these issues.

Yesterday, I said goodbye to my pain dr. who is leaving OHSU to soon start working at UWMC in December.  I wasn't expecting to cry because I did enough of that when he broke the news back in September.  Plus, this isn't goodbye forever because I'll be seeing him up there eventually.  But he got teary!  So me and my mom did, too. :'(  He kissed me on the cheek and hugged me tight.  We've been best buddies. :'(

My new favorite picture which was taken last month.  He's so sweet.

Today, I slept until 3 pm!  17 whole hours.  I've been so exhausted.  Thankful that I don't have any more appointments for the week. :)

Thank you for reading and praying,

kerissa

Muscle biopsy update and other news..

Hello everyone!

The mito coordinator down in San Diego was finally able to speak with my mito dr., and he told her he's almost positive there's more muscle.  So she's going to look once more, but in the meantime, my appointment that was scheduled with him in November has been postponed...we should hear more soon when that new date will be.  But whatever the outcome, whether there's more muscle or not, I trust the Lord completely. :)  If I do have to have another muscle biopsy surgery, I'm going to ask my pain doc if I can have my ears pierced while under anesthesia.  No joke. ;)  Because I have Complex Regional Pain Syndrome and any type of trauma can cause a nervous system flare-up, getting ears pierced under general anesthesia would be ideal! ;)  So maybe this muscle-biopsy-put-in-the-wrong-solution is a blessing in disguise!  Having a jewelry etsy shop and making earrings all the time makes me want to have pierced ears. :)

Last Wednesday, my GI surgeon had to get me in because I've been having raw tissue growth near my j-tube.  She had to use silver nitrate to chemically burn off the granulation tissue!  Hopefully that did the trick, but she said it may need additional treatments.

I mentioned in previous posts how my neurogenic bladder has been getting worse (my nervous system is not sending signals to my bladder and this could eventually cause kidney death).  Well, this morning, I saw the neuro-urologist.  She's excellent and so nice which I'm very thankful for. :)  And she spent more than an hour with us!  Next month, I have to undergo a urodynamics test to check muscle strength, pressures, etc., and in her own words, she said it's very unpleasant.  I have to be awake, too.  It involves catheters and having more things stuck inside of me.. :P  She also wants me to start a medication, and all this is very important to do to prevent kidney damage.  I have to get permission from cardiology first since the medication lowers blood pressure (I already have low blood pressure).

So she's very glad I see cardiology tomorrow!  And I am, too, because my high heart rates have been getting worse.. :/

I will keep all of you posted!  Thank you for checking in and praying for me! :)

More Setbacks.

Last Monday, we received some unfortunate news. :(  I heard back from the mito coordinator down in San Diego, and she explained that the mtDNA sequencing (one of the numerous tests that was supposed to be done on my muscle) at the lab in Georgia was not completed.  We're not sure if it was a new lab person who made the mistake or something else, but somehow, the muscle was sent to the lab in the wrong solution, making it completely untestable. :(  What's worse is that there is no extra muscle left (even tho' several pieces were biospied....some was sent to New York, etc.).  We're now waiting to hear from the dr. about all this and what needs to be done.  Worst case scenario is I'll have to get yet another muscle biopsy surgery..  As you can imagine, this is discouraging news for all of us to hear, but I'm trusting in the Lord's sovereignty!  He is faithful.  This is just yet another test of patience. :)  Hopefully we hear something by next week, and I will keep you posted!

This past Monday, I got my feeding tube changed to a low-profile "button"!  It was a very unpleasant and painful procedure....basically, they pull the long tube all the way out of the stoma (hole) in my intestines and then "stuff" the new tube back into the hole. ;)  But it was definitely worth the pain because this new button is so easy to manage and handle!  That, the new tube feeds formula, and my feeding pump switch to a lighter one is all so nice!  Here are some pictures. :)

This is a j-tube pad around my mic-key button.  Many people sew these---they're super cute and comfy!  And it keeps the granulation tissue/leakage at bay!

hooked up to tube feeds :)

And this is my new enteralite infinity pump!

Yesterday, I had a lidocaine and magnesium infusion for the CRPS pain.  We weren't expecting any surprises because I've had both before, but you know me... ;)  I have to keep things exciting!  Long story short, things went terribly and involved very high heart rates, slurred speech (that was scary), head-throbbing, and a feeling of passing out twice.  The pain team had to quickly give me a bag of IV fluids and stop all the medication drips.  So I didn't really receive a good infusion... :/

If my insurance approves it, my pain dr. will be starting me on another pain medication.

In addition to all this, I've been dealing with a huge and painful mouth ulcer.  I haven't been able to eat much at all!  It's hard to talk, and this ulcer is my biggest one yet. :(  I've been getting mouth ulcers regularly for a long time now, so I have to see a dermatologist who specializes in oral mucosal disorders because we're wondering if something else is going on.

This has been a challenging week, but I continue to press on!  To close, I want to share this beautiful quote that I read just today. :)

"Suffering is not the absence of goodness, it is not the absence of beauty, but perhaps it can be the place where true beauty can be known" ~ Kara Tippetts (a sister-in-Christ who recently wrote a book about her journey battling stage 4 cancer....she knows all about suffering!)

Long overdue update

Hello friends,

I'm sorry it's taken me so long to post.  My weeks have been filled with doctors appointments and therapy, and I've been needing to sleep past 2 pm some days!

I just wanted to thank all of you who purchased through my Etsy shop!  It encouraged me so much. :)  It has definitely helped lighten my huge medical bill pile.

Warning: this will be a long medical update!

I haven't been tolerating j-tube feeds very well, and the gastroparesis has been causing a lot of stomach pain (all organs need energy to function....because of mito, my stomach isn't getting enough energy, so the food I eat just sits in my stomach or moves very slowly).  I saw my GI dr. on Monday, and he set up a new plan.  He's such a wonderful doctor!  He put in a new tube feeds order to see if a less calorically-dense formula will be better tolerated.  He also mentioned I could be dealing with Small Intestinal Bacterial Overgrowth (SIBO), but we will try this first.  Regarding the abdominal distention from the gastroparesis, he wants me to do a trial of increased j-tube feeds and less eating orally (by mouth).  That's a big step, but hopefully it will only be short term!  I won't be starting this yet until I get the new formula and until I can switch feeding pumps.  My current pump is quite heavy and makes it difficult to carry (because of the muscle weakness) so his staff is contacting other companies for a lighter one.

Unfortunately, my neurogenic bladder has been getting worse, and my GI surgeon explained how my kidneys could die if I don't get this treated.  Wasn't expecting her to say that!  She put in an urgent referral for me to see a neuro-urologist at OHSU.  That appointment's still a month away because she only works part-time and this specific dr. is the one I need to see.

I had a follow-up with my PCP today, and she's referring me to a cardiologist at OHSU who specializes in arrhythmia because I've been dealing with high heart rates, excessive night sweating, and heart fluttering.  That's how bad mito is. :(  It basically affects every body system!

Last week was Mitochondrial Disease Awareness 2014, and I didn't get a chance to blog, so you can consider this my awareness post. :)

P.S. The mito conference in Seattle two weeks ago was amazing!!  I'm so thankful for all the specialists studying this complex and extremely challenging group of diseases.  My mito specialist was there as well, and I was able to say hi to him.  He told me that I'm a conundrum (medically)...that's never good news.. :/  I asked him if he remembers me from June (he sees a ton of patients), and he said, "Of course I remember you!" :)

A neurologist who trained under an excellent mito specialist at Seattle Children's is now practicing at Legacy Emanuel's Randall Children's Hospital in Portland, and she's trying to get approval to open a mito clinic.  She also hopes to see older kids and adults as well!  She took my contact info, and I'm to call her office about all this within 6 months.  Oh that'd be so wonderful to have a local mito specialist! :)  This would technically be the first mitochondrial disease clinic in Oregon!

A thick binder full of notes and slides they gave to each attendee!

In front of the Bell Harbor Pier and conference center :)

This is how close the conference center is to the water!

Sad news

Hi everyone,

Thank you so much for your prayers and support!  It means a lot to me.  I am doing a little better than before. :)  After I wrote my previous post, I only had to go back to the ER one more time (that was a total of 3 trips to the ER and 1 urgent care visit in less than 2 weeks....).  The GI dysmotility got pretty bad, and I was in a lot of pain.  So Surgery told me to go to the ER to check for obstruction.  Thankfully, that was not the case, but the x-ray results did show that I was very backed up. :/  The doctors ordered more fluids, blood work, and IV meds, and I was able to go home with an updated medication regimen about 6 hours later!

_______________

Today, I saw my pain dr. because the CRPS burning pain has been so very severe in my hands. :(  I have to hold an ice pack at night because my hands over-heat and burn like crazy!  They've been flaring up because I had so many IVs and blood draws the last several weeks, and needles always make things worse.  My pain dr. ordered an IV lidocaine drip combined with ketamine and magnesium which will be done on Oct. 8th.  So far away because he's booked out.. :/  Hopefully there will be a cancellation soon!

To my great sadness, Dr. S told me that he is leaving OHSU the end of October and moving to Washington to practice at the University of Washington Medical Center beginning in December.  I wasn't expecting this at all. :'(  I'm so very sad!!  It's not because he doesn't like OHSU anymore...he's been here for 18 years.  And he likes change, so he made the decision a month ago.

He told me at least he's not moving to Cincinnati or San Diego.  Washington is just a few hours away, and I'm not completely heartbroken because I get to see him up there. :)  But this news is still hard...change is hard.  I've been seeing him at OHSU for almost 4 years!  Out of all my doctors, he's my favorite.

_______________

The next several weeks, I have many big follow-ups with Neurology, Surgery, GI, and Internal Medicine.  So I may not be able to update much.

Also, next Friday and Saturday, my parents, sis, and I get to attend a two-day mitochondrial biology conference presented by Seattle Children's Research Institute!!  Many mito specialists from across the US will be coming to speak to families and doctors.  I'm so excited!  The second day is a family day where you can meet other families with mito. :)

P.S. My etsy shop is open!  Check it out. :)  5% of profits will go towards MitoAction and mitochondrial disease research.  And the rest will be for all the increasing medical bills I have!

Another trip to the ER....this time by ambulance :(

Hey friends,

Please pray for me.  It's a long story, but since Saturday, I've been dealing with bad headaches every day and just feeling plain crummy.  I thought maybe I had another bladder infection, so my PCP's office told me to go to urgent care to check Tuesday evening.  Well, it turns out I don't have one, but I think I'd rather have that since it's treatable!  TMI, but I'll just state the facts: they found I have high ketones in my urine (my liver is forming too many ketone bodies and excreting it in my urine).  This is what that means---my GI dr. and the urgent care dr. said my body is basically in a starvation mode and is burning fat (instead of sugar) for energy.  Mitochondrial disease, protein-calorie malnutrition, and failure to thrive (all things I'm dealing with) don't go together. :(

Yesterday, things went downhill.  My weakness got worse, I was so hot from burning so much energy, and the nausea was so bad.  My parents had to call 911.  I thought I was going to pass out! :(  The paramedics had to use a sling to carry me out and put me on a stretcher.  I was taken to OHSU where they gave me a bunch of IV pain/nausea meds and IV fluids with dextrose.  In just 2 weeks, I've been poked a total of 8 times just for blood draws and IVs.

I'm home now because I started perking up after all that they gave me, but I am still so sleepy and weak.

My GI dr. and the nutritionists recommend that I start using tube feeds 24 hours around the clock, so please pray that things will start looking up and that I'll feel better.  I may have mito, but it won't have me!

I have touched the scars upon His hands, 

To see if they were real.

He has walked the road before me, 
He knows just how I feel.
When you feel there is not anyone, 
Who understands your pain, 
Just remember all of Jesus' suffering.

-from one of my favorite songs by Jeremy Camp ("Healing Hand of God")

Another trip to the ER.....

Suffice it to say, I am "ER-ed" out.....I just can't stay away! jk ;)

But first, let me rewind a little bit:

On Thursday, Aug. 7th, I had surgery for a jejunostomy feeding tube placement.  Thankfully, everything went well, but there were still some complications and setbacks.

1. After surgery, my heart rate was way "too high," as the nurses put it.

2. I had a low grade fever, something the team monitored closely in case it turned into Malignant Hyperthermia (which I'm susceptible to based on genetic testing).

3. I had to spend several long hours in the PACU (post-anesthesia care unit) because of breathing problems which continually set the alarm off.  The team ended up having to use my CPAP machine.

4. I had almost a whole LITER of fluid in my bladder!  The doctor was astounded!  I couldn't empty it on my own (because I have a neurogenic bladder), so they ended up having to place a Foley catheter---such a painful procedure! x[

5. During surgery, they wanted to place an arterial line in my arm to continually monitor blood gases....my blood work got so out of whack.

6. Over the course of this hospital stay, I had to be given 6 liters of IV fluids because my potassium kept dropping very low!

7. The dr. said I bled a lot during the surgery, even though this was laparoscopic (minimally-invasive).

Anyways, I got home from the hospital Saturday evening!  I was sent home with a long list of medications to take, including some stronger pain meds because having CRPS makes my nervous system more sensitive than normal.

Monday night, I noticed the J-tube site was bleeding a little bit, but I just tucked some gauze near the area and went to bed.  Well, at 1:30 in the morning, I woke up to wet blood on my sheets and pajamas.  I groaned, knowing where this was going to lead me.  My mom called the GI surgery resident on-call, and he said to go to the ER if I was bleeding at the central part of the J-tube.  So to the ER we went!  As you can imagine, this was unwelcome---here I was sleeping peacefully! ;)

When I arrived at the OHSU ER, they got me right in and even put me in the pediatric side (Doernbecher's) so that I wouldn't have to wait at all.  It's a bad sign when the emergency dr. knows you and is familiar with your case.. ;)

The nurses were concerned about all the blood.  The dr. quickly called Surgery to come.  What followed was very unpleasant and so painful!  The dr. washed and cleaned the area aggressively to try and see where the bleeding was coming from.  She had to use scissors to remove thick blood clots....that part wasn't nice to watch. ;)  The bleeding still kept coming, so she eventually had to suture the place up again.  Thankfully, that did the trick!

I have a follow-up with Surgery on Friday.  They're going to remove these things at the J-tube site called bolsters (which are currently anchoring my small intestine to the wall of my abdomen).  And in a few weeks, I get to have the tube changed to a "low-profile button." :)

Today I started feeds at a very slow rate.  Here are a couple pics:

This is how I put medications through my tube!

I receive high-calorie formula through the feeding tube. :)

Thankful.

On Wednesday, I had a bilateral lumbar sympathetic nerve block, and the best news of all---it was a successful block. =)  I'm so so thankful to the Lord for this pain relief!  Within minutes, my pain went from 8 to 0 on a pain scale of one to ten!  My legs and feet still feel amazing.  Nerve blocks are temporary, but my pain dr. used a combination of meds to try and make the pain relief last as long as possible!

My neuro-ophthalmology and spine follow-ups this past week went well.  As I mentioned before, my left eye can't move to the left at all, but the movement in my right eye is still intact which is great news since that can change quickly..  The spinal curvature is stable as well, so I only need to see my spine dr. on an as-needed basis! :)  The day of my J-tube surgery next Thursday, he wants his assistant to send him an email to remind him that I'm having surgery because he wants to try and visit me on Friday if he has a chunk of free time.  He's so sweet!

I finally figured out why I've been dealing with bad insomnia at night.  The mito specialist started me on a high-dose antioxidant which I'm supposed to take twice a day.  And one of the side effects is insomnia!  So because of that, my sleep dr. is starting me on a "non-habit forming" sleep med.  I hope it helps---not getting enough sleep has been aggravating all my GI symptoms.

I've been losing more muscle in my legs, too.  It's hard to see them getting smaller and smaller....my balance is more affected as well, so my physical therapist is having me start using Neuromuscular Electrical Stimulation (NMES) to try and slow the muscle atrophy.  I'm so blessed to have such dedicated therapists work with me every week.

This coming Tuesday is my pre-op appointment, and Wednesday we'll receive the call when the J-tube surgery is on Thursday (8/7).  The surgery will be laparoscopic with many small incisions.  The surgeons are going to fill my abdomen with co2 to see better...sounds uncomfortable! ;)

Thank you so much for your faithful prayers and support as I start another part of this journey!

Surgery date :)

Last week, I had 5 appointments---all at OHSU..  I feel like I live there! lol  But do you want to hear some good news?  Surgery had a cancellation, so I was able to see them this past Wednesday instead of the previously scheduled consult appt. the beginning of August!  All the praise goes to God!  My 6th surgery (jejunostomy feeding tube placement) is now scheduled for Aug. 7th (pre-op is Aug. 5th), just two and a half weeks away!  If all goes well, it will only be a one night stay in the hospital.

I'm glad this surgery is coming soon.  I'm still losing weight again, and on top of all my other GI diagnoses, the general surgeons gave me another diagnosis called Failure to Thrive (FTT).  It's odd to know I now have that..

The CRPS pain in both of my feet and the muscle biopsy site has been so horrendous.  I haven't been sleeping well at all, and I often have to keep my feet over the side of my bed because sheets cause pain!  I saw my pain doctor on Thursday, and I'm just so grateful for all that he does to try and lessen CRPS flare-ups.  He wants to do another bilateral lumbar sympathetic nerve block which is scheduled for next Wednesday the 30th.  We discussed the J-tube surgery, too, and his recommendations for pain control during and after the surgery.

Next week, I also have a follow-up with my neuro-ophthalmologist, and my orthopaedic spine dr. wants to see me as well to check up on everything with scoliosis x-rays.

At the recommendations of the mito specialist and my neurologist, I recently started a bunch of high dose antioxidants and supplements---this combination is called a "mito cocktail." :)  Not sure if anything will help, but it's worth a shot. :)

4 years ago today!

July 8, 2010, I had foot surgery to remove a hemangioma that I had in the bottom of my right foot.  I was only 17 years old. :o)  I was born with that birth defect---it made walking and any other type of activity painful.  After that surgery, a whole host of problems started.  I developed a hard, hypertrophic scar---it was like a rock and definitely not normal.  I was so sad to again find out I couldn't walk without pain....talk about ironic! ;)  Easy scarring and a bunch of other symptoms led me to an Ehlers-Danlos Syndrome diagnosis 20 months later.

That right foot surgery also caused me to develop severe Complex Regional Pain Syndrome which spread to my left foot as well.  I couldn't bear weight on my feet and dealt with terrible, sharp burning pain, swelling, and autonomic problems daily.  I didn't get diagnosed with CRPS until I got referred to the OHSU pain center 8 months later.

All these issues definitely prepared me for the hard trial that would come down the road in 2012 when I started dealing with mitochondrial disease symptoms.

Still, 2010 and 2011 were tough years, but I see God's sovereignty through it all!  I never walked alone.

_____________

In other news, consult with Surgery (for the J-tube placement) isn't until Aug. 6th.  And that's just the consultation..  It's the soonest they can get me in. :(  I am on the list if any other patients cancel....hopefully these next 4 weeks will go by fast.

A lot of scar tissue is building up under the muscle biopsy incision (that's the nature of EDS), so my physical therapist has been working on trying to break it all up.  It's so painful.  I have a feeling CRPS is flaring up in that area, but we'll see what my pain doc says next week.

Tomorrow, I see my neurologist to update her on all that's happened.  And the next few weeks, I have a lot of follow-ups with Physical Medicine, Neuro-ophthalmology, and Spine!  That's on top of all the therapy appointments.  It's been a busy summer already!

Back home :)

It's so great to be home!  We got back from California this past Friday.

On Saturday, I had an unwelcome coming-home present. ;)  The on-call GI dr. told me to go to the ER yet again because I was (and still am) dealing with esophagus pain and wasn't tolerating NJ tube feeds well.  He wanted to remove the tube as soon as possible (even though I had a follow-up with my main GI dr. today) and do another endoscopy.  Some small ulcers were found in my small intestine caused by the feeding tube.  I'm glad the tube is out because my GI tract was starting to get irritated.

My GI appointment today went well.  Dr. P is going to consult with an OHSU general surgeon (Another top dr. voted by Portland Monthly. :)  I continually thank God for blessing me with such a wonderful team of specialists!).  Lord willing, this surgeon will be placing a jejunostomy feeding tube directly through my small intestine.  Not sure when yet, but Dr. P wants it done soon so that I don't drop to 70 lbs.

Dr. P also removed the muscle biopsy sutures in my leg.  The surgical area still hurts a lot---I'm glad I see my physical therapist this Wednesday.  I won't get biopsy results for at least 2 months (and probably longer since I don't see the mito specialist again until November).  On June 20th, the dr. removed 4 chunks of muscle and sent them to different labs across the country.  It was really painful having to be completely awake for the surgery.  Hopefully I'll never need another one!

Long appointment update 6/17

Hey friends,

Still trying to process everything, but here's a summary as short as I could make it. ;)

This morning, I had a 2 hour appt. with a famous mitochondrial disease specialist in San Diego.  I waited 11 months for this, and it finally came. :)  It gives me so much hope to now have a dr. who understands mito and other neurometabolic disorders---he's been diagnosing/treating these rare conditions for over 40 years!  He's almost 70 years old. :)

Anyways, my case is very complicated and difficult.  Dr. H is concerned that I may not only have a possible mitochondrial cytopathy but also other conditions on top of this, including a spinal cord problem.  Based on my neurologic exam, he also wonders if I had a small stroke on the left side in 2012 (when all this really started) because my reflexes are more pronounced on the left side which often indicates a stroke.

Another dr. who is visiting from Saudi Arabia also mentioned possible Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) based on my clinical symptoms.  This specific disease has a poor prognosis.. :/  But please don't worry, I'm leaving this in God's hands. :)

So here's the long plan:

1. I had lab work done today (and will have more later this week) to check all kinds of labs like lactate, CPK, thymidine, and plasma/white cell coQ10 levels.  They're also going to do an Oligoarray comparative genomic hybridization profile which will check for any microdeletions in my DNA.  Sounds complicated, right? ;)  In addition, Dr. H ordered a plasma acylcarnitine panel.

2. This Friday, I have a skin biopsy (to check fibroblast cells) and open muscle biopsy scheduled (and I have to be awake during it!) which will be sent off to a lab in Georgia.  They will be doing mtDNA testing.  In addition, he ordered electron transport assays and histochemistry.

3. He also mentioned possible whole exome sequencing which looks at 30,000 genes, but he doesn't want to do that yet because it's very complex.

4. At Cincinnati Children's last year, I had blood mtDNA sequencing done which found a rare mutation (13376T>C in ND5).  He wants my mom to have that done as well to see if she carries this particular mutation.  If she does carry it, then that is not causing my symptoms since she's asymptomatic.

These results take up to two months!  And he wants to see me in 3 months...sooner than I was expecting!  He warned that some of these results (muscle biopsy especially) can often be normal.  That doesn't mean nothing's wrong....mitochondrial disease is an ever-growing field.  If that's the case, he said I may have a disease never before seen..  I hope not!

Depending on these results, he mentioned that there's a promising drug trial I could try, but I would have to be here at least 10 days.  So we'll see.. :)

And that's about all! ;)  The mito clinic gives comp tickets to the San Diego Zoo, so we'll get to visit either tomorrow or Thursday!

I'd appreciate prayer that I will be able to tolerate the biopsies on Friday.  I have complex regional pain syndrome, and that makes me hypersensitive to any type of invasive procedure..

Love you all!

P.S. I've had the NJ feeding tube for more than a month now!  Less than 2 weeks left before I get to have it removed. :D  I have to gain about 8 pounds in order to be back to the weight that I was at in October..  It looks like I will have to get a permanent J tube surgically placed.  But here's the nice thing....I won't have to have a tube through my nose and down my throat! :)

3 days.

Just in case you don't already know, we leave for San Diego in 3 days! :D  My appointment with the mito specialist is in 6 days....muscle biopsy in 9 days!  Can't believe everything is just around the corner!  It can't come soon enough, and here's why:

Long story short, I had yet another ER visit and hospital stay last week.  I was dealing with especially bad nystagmus (uncontrollable, oscillating eye movements...seriously one of the worst symptoms ever!).  I was super nauseated all day Tuesday, and Wednesday, I had a vomiting episode on the way home from physical therapy.  Things went downhill after that, and my neurologist told me to go to the ER.  I had 5 tubes of blood drawn and was given IV zofran, phenergan, reglan, toradol, benedryl, magnesium, lorazepam, cipro, and 3 liters of fluids.  So many IV medications at one time!  All that made me pretty out of it, and honestly, I don't remember much. :D  I got admitted to the ER observation unit for two nights because they also found out I had a bladder infection....that's probably why the nausea and nystagmus got so horrible.

Tomorrow, I'm getting squeezed in to see my neuro-ophthalmologist regarding all that happened last week.

I will try to update sometime after the big mito appointment next week, but I may be having too much fun in San Diego! ;)  Praying the nystagmus and headaches can stay away!

Only 19 more days to go!

Can you believe we leave for San Diego in less than 3 weeks!?!  Wow! :)

I'm sorry it's been so long since I updated.  Haven't been feeling great and am dealing with really bad hay fever on top of everything else (and the funny thing is, I'm rarely outside!).  May 16th I had a nasojejunal feeding tube inserted.  The jejunum is part of the small intestine, and the small intestine alone is about 20 feet long!  Talk about amazing! :)  My GI dr. had difficulty placing the tube past my stomach, and it took 3 tries + forceps.  I also had a rough time in the PACU (post-anesthesia care unit)---my temperature dropped to 94 degrees, and I experienced heart/lung issues which required IV heart medication and a breathing treatment.  With mito, nothing is simple..

On top of all that, the bottom of the feeding tube got kinked that night, and I couldn't even start feeds.  I had to go back into the hospital two days later and get that fixed.  It's now working great! :)  It's actually fun to set up the feeding pump every day and use a syringe to flush the tube before/after feeds.  Each night, I receive up to about 1000 extra calories (my GI dr. gave me a diagnosis of Protein Calorie Malnutrition).

I'm slowly getting used to the tube down my throat but am still experiencing painful "charlie horses" in my tongue which aren't fun at all.  But I only need to have this NJ tube for 5 more weeks!  Counting down the days! ;)

Thank you so much, Auntie Karen and Kelsey, for putting together this beautiful "scrapbook" full of cards and notes!  What a treasure this will be throughout the years!  I am so blessed to have you in my life. :)  And thank you to everyone for sending words of encouragement through this book!  It means a lot to me.  I'm thankful to the Lord for all the support He's placed around me!

New and current problems

Thank you all for visiting my blog!  That really encourages me!  I can tell from the increasing page views that some of you have been waiting for another post. ;)

I'm sorry my blog posts have lately been few and far between....I've been busy trying to manage all these ongoing symptoms which are getting significantly worse.  To the stranger's eye, I look completely normal.  And yet, this is just a small part of what's going on:

My left eye is getting more and more paralyzed.  It hasn't been fun losing so much range of motion, and it's weird that I can't look to the left unless I move my whole head.  But I'm so thankful that my right eye is unaffected at the moment and can move very easily!

I'm now dealing with ongoing hip pain, and physical therapy thinks this is a hip impingement.  The problems never end.. :/  This is probably because of EDS and all the muscle weakness that I'm experiencing as well.

The nerve pain in my feet has been increasing in severity---my pain medicine dr. is concerned that I may have a nerve injury component worsened by not getting enough nutrition.

Next Friday is the day my GI dr. will be placing an NJ feeding tube through my nose, past my stomach, and all the way into the middle of the small intestine.  I'm glad this is just around the corner because I'm still steadily losing more weight.  I'm nearing the weight that I was at when just 10 years old....that's how bad this is becoming!

I have no clue what my prognosis will be in 1, 5, or 10 years.  Mitochondrial disease is so unpredictable.  But this I know: my future is fully in God's hands, and I trust Him completely! :)

*JUST 37 MORE DAYS TILL WE LEAVE FOR SAN DIEGO!*

Getting a feeding tube

Hey friends,

Just a short update!  I had appointments with GI and Nutrition this past Tuesday, and it's not great news---my weight's still steadily dropping..  So my GI dr. has to put in a nasojejunal feeding tube which will bypass my stomach and go directly into the small intestine.  I'm not getting enough nutrition because my stomach isn't moving food well, and that's making all my symptoms worse.  This NJ tube placement will be done in the OR on May 16th!  It's kind of a big step, but I'm past a medication stand-point and I'm losing weight too fast.  When I see the mito specialist June 17th, we'll see if he thinks I need a permanent feeding tube.

*54 DAYS!*

;)

I read this beautiful quote a while back from a small book that one of my friends let me borrow, and I wanted to share it with you.  I hope it's an encouragement to you. :)

"If God had told me some time ago that He was about to make me as happy as I could be in this world, and then had told me that He should begin by crippling me in arm or limb, and removing me from all my usual sources of enjoyment, I should have thought it a very strange mode of accomplishing His purpose.  And yet, how is His wisdom manifest even in this!  For if you should see a man shut up in a closed room, idolizing a set of lamps and rejoicing in their light, and you wished to make him truly happy, you would begin by blowing out all his lamps; and then throw open the shutters to let in the light of heaven."

~Samuel Rutherford

It's Official!

Wonderful news! :)  My appointment with the mitochondrial disease specialist at UCSD Medical Center is set in stone for June 17th!  My parents, sis, and I will be there at least a week since the muscle biopsy is scheduled for Friday, June 20th as well.  And after I see the dr. that Tuesday, we'll know more then if he will order any additional tests, etc.

this is what the hospital looks like!

*2 MORE MONTHS*

:)

Yesterday, I had physical therapy and also saw my pain dr.  The CRPS pain in my feet has still been really bad.  And this past Friday, my pinky finger and side of my right hand (my good hand!) accidentally got cut, and now the CRPS has been flaring up in that area. :/  That's how bad this pain syndrome is---the smallest cut can set a limb "on fire."  So Dr. S is changing one of my meds and switching it to a stronger one.  He also ordered some labs---one is to check my lactic acid level (at the request of the mito specialist in San Diego).  The last time I had it checked a year ago, the results were elevated..

This coming Tuesday, I have appointments with GI and Nutrition.  Unfortunately, the new medication I started a couple weeks ago hasn't been helping, and I still can't eat much.  I'm steadily losing more weight. :(

P.S. Please continue to keep Justina Pelletier and her family in your prayers.  Her health is getting worse by the week, she's losing her hair, and she's swollen all over.  This is a great article (written just today) by someone from MitoAction about the difference between medical child abuse and mitochondrial disease: http://www.mitoaction.org/blog/why-mitochondrial-disease-looks-nothing-medical-child-abuse  It also includes an update on Justina.  If you can't finish the whole article, read paragraphs 3 and 4.  We need to get her home!

Latest update!

I mentioned in my last post that I've been dealing with severe vertigo and a bunch of new, ongoing GI issues (nausea, weight loss, decreased appetite, stomach pain).  Well, my GI dr. and neurologist quickly got me in this week, and I'm so glad I was able to see them.  They're wonderful!

On to the not-so-good news:
I am down to about 79 lbs.  And I can hardly eat without getting terrible stomach pain and nausea.  It's most likely that I'm dealing with delayed gastric emptying which is dysmotility of the stomach..  This is common with mitochondrial disease.  See how mito can affect basically any part of the body? :(  It especially affects organs that demand a lot of energy like the brain, heart, muscles, GI system, etc.

Because of this, I have to be on a mainly soft food/liquid diet for now, and that's not good news since I'll probably lose even more weight.  Dr. P couldn't even hear any abdominal sounds with his stethoscope---this means the food isn't moving well out of my stomach.  He's putting me on a proton pump inhibitor drug and a compounded medication that will hopefully help this dysmotility issue..  I see him again and the nutrition therapist in less than 3 weeks!

My neurologist has come to the conclusion that the vertigo I've been experiencing for a whole month now is from an inner ear disorder (which usually happens after whiplash or concussions!).  I've never had either of those, but you know me. ;)  I'm not the typical patient!  At the appointment, Dr. G induced vertigo by doing these different maneuvers, and it wasn't fun at all!  She put in an order for me to have intense vestibular rehab.  She also prescribed a vestibular suppressant for bedtime to see if it will help me sleep better.  As you can imagine, it's very hard to get restful sleep with vertigo.

The CRPS pain has been ramping up again, too---my feet get really discolored, and the burning pain is just horrible.  I sent a message to my pain dr., and he told me he needs to see me for a visit.  I called to schedule an appointment, and he is booked until May 8th!  But do you want to hear an answer to prayer? :)  He has a cancellation in 11 days!

These symptoms on top of everything else has been challenging to manage all at the same time, but I thank and praise God for His mercies that are new every morning!

I just want to close with a quote a dear friend shared with me.  The last sentence that I highlighted gives me chills! :)
 

And so, perhaps in your life, you say, "I do not understand why God let my dear one be taken.  I do not understand why affliction has been permitted to smite me.  I do not understand the devious paths by which the Lord is leading me.  I do not understand why plans and purposes that seemed good to my eyes should be baffled.  I do not understand why blessings I so much need are so long delayed."  Friend, you do not have to understand all God's ways with you.  God does not expect you to understand them.  You do not expect your child to understand, only believe.  Some day you will see the glory of God in the things which you do not understand.

~~J. H. McC

Symptoms and Setbacks

Hello friends,

I'm sorry it's been almost two weeks again since I last blogged.  I always have bad news to share. lol ;)  The disease process (whether it's mito or something else) is progressing, and I'm dealing with way too many symptoms.  I look so normal, and yet I deal with all of this continually:

-Migraines
-Complex Regional Pain Syndrome
-Nystagmus
-Ptosis
-External Ophthalmoplegia
-Tinnitus
-Myoclonus
-Sleep-disordered breathing/sleep apnea
-Hypersomnia
-Muscle weakness/wasting
-Hypotonia
-Fatigue
-Premature Atrial Contractions
-Postural Orthostatic Tachycardia Syndrome
-Slight Tricuspid Valve Regurgitation
-G.I. dysmotility
-Dysphagia
-Hypermobility
-Cervical spine instability
-Mild scoliosis
-Dysautonomia
-Tremor
-Vertigo
-Muscle spasms/cramping in right hand

THIS is the nature of mitochondrial disease.

I mentioned in my last post that I've been having breathing problems at night, so my sleep dr. did increase the CPAP pressure this past week.  It's really strong, but it does help. :)

I've also been having some setbacks in physical therapy and occupational therapy.  My brain isn't recognizing where my left foot is, and I'm having sensory/proprioception problems.  The dizziness came back again, too.  But my physical therapist is awesome, and I know he'll do all that he can to try to help these issues.

My occupational hand therapist is wondering if the muscle spasms/cramping in my right hand is from dystonia, so he's having his colleague take a look.

In addition to all of this, I'm experiencing bad stomach pain after eating.  And it doesn't change with the type of food (gluten-free or not).  I really hope this isn't delayed gastric emptying..  Last year, I had that gastric emptying scan which came back normal, but I didn't have this symptom then..  If it's not better within the next week or so, I'll have to tell my GI specialist.

I'm just getting worse as each week passes, but the Lord has been so faithful.  I couldn't do this without Him.  I know I shared this before, but one of my favorite Scripture passages from the book of Isaiah says this, "Fear not, for I have redeemed you; I have called you by name, you are mine.  When you pass through the waters, I will be with you; and through the rivers, they shall not overwhelm you; when you walk through fire you shall not be burned, and the flame shall not consume you" (Isaiah 43:1b-2).  That's what the Lord has been to me.  Always there. :)  And with His help, I know I can take on these challenges!

I will end with something that encouraged me!  Last week, a rep from Courtagen Life Sciences (where I got my DNA testing) emailed me and said he found my blog on the web! :)  He wanted to share it on Courtagen's facebook page which has over 26,000 followers!  I thought that was so cool and neat!  I took a screenshot of it. ;)

MRA results and more!

I'm sorry it's been a while since I last updated!  I just want to thank you all for your continual prayers!  It's been a tough couple of weeks.  At the end of February, I was dealing with blurred vision for several days, so my neuro-ophthalmologist squeezed me in for a follow-up.  She thinks I was experiencing an ocular migraine.  It's either that or mito-related.

Last Monday, I had an MRA done of my neck.  The test was pretty much finished, and one of the techs even took out my IV.  But one of the other techs came back and said they needed to do some brain sequences.  I was a little puzzled why (since I just had a brain MRI the beginning of February).  But I got that done and then went home.  When I woke up the next day, my mom said that the MRI place called again and they wanted me to come back that day for more brain images!

Well, I received the results on Friday, and they're somewhat abnormal:

This is me in vascular form. ;)  That blue arrow I drew is pointing to my left vertebral artery---see how it's kind of coiled and looped?  That's called tortuosity which is a new med term that I learned. ;)  People with tortuosity are prone to aneurysms/strokes, and my neurologist said it can be seen in patients with Ehlers-Danlos Syndrome.  My cervical spine instability is putting stress on my arteries....so my neurologist wasn't very surprised by this new finding.  She said it's just something to keep an eye on.

I've also been dealing with decreased appetite and weight loss again. :(  I've been doing all that my GI dr. told me to do, but it's not helping.  So he referred me to their clinic's nutrition therapist, and that appointment's next month.  We'll see if she has any other insight to offer..

After PT and OT today, my mom and I were able to ride the tram up to the OHSU hospital again because I had to drop off my CPAP sd card at the sleep clinic front desk (my sleep dr. wants to take a look at the data to see if he needs to increase the CPAP pressure because I've been experiencing breathing problems due to tired respiratory muscles).  OHSU gives free passes to patients! ;)  The ride was especially fun today because the weather was sunny and beautiful!

For those who don't live in Portland, this is what it looks like!  Took this while riding the tram. :)

That's about all for now!  Haven't heard more about the plan from the mito specialist in San Diego...the coordinator is waiting for tests like the muscle biopsy to get pre-authorized.  And you know how long insurance matters take.. :P

*Good news/Bad news*

I have good news and bad news....what would you like to hear first? ;)  Let's start with the bad:

I got my MRI results, and the report says I have levocurvature of my cervical spine which wasn't there before.  I also have wasting of several vertebrae, and my C5-6 disc narrows the ventral CSF space of my spinal canal.

When I got those recent MRIs, the doctors forgot to order an MRA (magnetic resonance angiography) of my neck which my neurologist requested.  Sooo....guess what.  I have to get yet another MRI which will be my 12th one so far. x[

For the past few weeks now, I've also been dealing with daily cramping/stiffness in my right hand which makes it difficult to write, text, hold a fork, crochet, play piano, etc. :(  And this was my good hand!  My physical medicine dr. referred me to occupational hand therapy again, and he also wants to do a bilateral EMG/nerve conduction study which will be my 6th EMG.  That's scheduled for March 11th.

I also started experiencing dizziness/blurred vision this past week, and it's been horrible....my neurologist still suspects possible TIAs.  Thankfully, my MRI is scheduled for this coming Monday.  The fatigue has been really bad, too, and I had to sleep 16 hours yesterday. :[

I know I'm getting worse, and I hate that my body's not functioning well....but are you ready for the good news? :)

I have a tentative appointment with a mitochondrial disease specialist in San Diego on June 17th!!! :D :D :D  So very thankful!  The Lord answered my prayers!  I got referred to this dr. last July, and we were all beginning to wonder if this would ever happen!  This specialist has been working with mito patients for over 40 years!  He's also on the scientific and medical advisory board for the United Mitochondrial Disease Foundation.

I should be hearing more about the plan soon. :]

P. S. This is my "loaner" gait trainer until I get my own.  Like it? :)  I am determined to learn how to walk normally on my own, even if it's just for short distances!

P. P. S.  Please pray for 15 year old Justina Pelletier and her family.  What happened is terribly sad, unreal, and tragic.  If you haven't heard, her story has made national news.  Google her.  This hits home because she has mitochondrial disease. :(  Her parents lost custody of her, and her health has dramatically declined.

Here are a couple of good articles:

http://abcnews.go.com/Health/advocates-fight-teen-justin-pelletier-held-state-pysch/story?id=22312907  In this article, Dr. Richard Boles of Courtagen (where I got my DNA testing) spoke.

http://www.huffingtonpost.com/cristy-balcells/first-do-no-harm-how-we-f_b_4843997.html  This article was written by Cristy Balcells, executive director of MitoAction.

What happened last week

Last week was tough.  For once, it'd be nice to have no adventures. ;P

Wednesday afternoon, I started experiencing a bad headache, but I wasn't too concerned because I get migraines (they usually don't last more than a day).  So I just waited for the headache to pass.  It was still there the next day, though, and I started struggling because of the pain.  My left drooping eyelid got especially bad.  And none of my usual nerve pain meds or Ibuprofen and Aleve touched the pain.  As I mentioned in my previous post, my neurologist wondered if I had a TIA or small stroke..  And so I headed to the ER.  Because of the snow, I couldn't go to OHSU's ER, and I hated that I had to go to a different hospital.  Long story short, that was a terrible mistake because this particular ER didn't know "me" and my complicated medical history.  They didn't even do a full neurological exam.  All they did was give me one hydrocodone/acetaminophen tablet.  They sent me home.

The next day, the headache pain was so bad.  I couldn't eat much because of the nausea.  I started having balance issues and was also dealing with new right hand weakness.  So this time, my parents and sister drove me to OHSU's ER.  This hospital is so awesome (it's #1 in the state of Oregon ;).  They got me a room right away.  They did labwork and gave me lots of IV pain and nausea meds.  People with EDS are prone to aneurysms and strokes, so the doctors were concerned that maybe I did have something like that.  They ordered two emergency MRIs which I had done there in the ER.  Thankfully, the scans were clean!  The doctors told us I was probably dealing with a "complicated migraine" which is not just a simple migraine.  They're complex and can cause weakness/neurological issues.  They gave me IV toradol for pain, but that unfortunately didn't help.  So they put together a "migraine cocktail" you could say. ;)  An IV magnesium drip, Reglan for nausea, and IV benadryl which has been shown to reduce pain.  My pain went down from a 9 to a 5, and my drooping eyelid improved.  We were in the ER for 8 hours.  But we arrived home at 2:45 AM, and I slept till 4 PM the next day!

The adventure wasn't finished. ;P  I woke up because my blood sugar dropped very low (a bad issue associated with mitochondrial disease).  My heart was pounding, I was shaking, sweating, and extremely weak.  I laid on top of our stairs, unable to move.  My mom had to quickly spoon feed me grape juice to get my blood sugar back up.  It was hard for me to even suck from a straw because I was so weak.  I had to sleep a lot after that, and it was too exhausting to even watch a movie.

That episode on top of two ER visits did me in, and I'm still trying to get better from this weakness.

So that's what happened last week.  How was your weekend? ;)

One step forward, two steps back (again)

Hey, friends,

Just a quick update!  Thank you so much for all your steadfast prayers and support as I continue this incredibly long journey..  All of you so encourage me. <3

My big neurology appointment was originally scheduled for next Tuesday, but it got moved up to this morning!  That and having a sleep medicine follow-up as well this afternoon made for a busy day.

Based on my latest clinical symptoms (mainly, new right arm weakness and cognitive issues), my neurologist is wondering if I had a TIA (mini stroke)..  Definitely wasn't expecting this. :(  She already put in an order for a brain MRI and cervical spine MRI which will be my 10th and 11th MRIs....too many!  Again, she's not positive I had a TIA (but there are some things that point to it), so she wants to be safe rather than sorry.  I'm so thankful that the Lord is in control no matter what!  I couldn't do any of this without Him!

Dr. G also put in an order for me to have somatosensory evoked potentials done again.  I had this long test done back in January of 2013, but she wants to repeat it to re-evaluate my spinal cord because I have very hyper reflexes which isn't normal.

My sleep medicine appt. went great!  Dr. H is so sweet and one of the most personable doctors ever. :)  He's also the youngest out of all my doctors---only 18 years older than me! ;)

I just want to close with a quote that one of my friends shared with me last week.  I hope it refreshes you!

"Trained faith is a triumphant gladness in having nothing but God--no rest, no foothold, nothing but Himself--a triumphant gladness, rejoicing in a very fresh emergency that is going to prove Him true.  The Lord Alone--that is trained faith." ~~ Lilias Trotter

Keeping the Faith

This recent article makes me happy. :]  It's pretty much the only happy news in this post. lol

http://dailyparent.com/articles/the-nations-top-five-pediatric-hospitals/

_________________

I saw my GI specialist on Monday.  As of now, I don't have to alter my medications for all the GI stuff, but I'll follow up with Dr. P again in 3 months or so.

Thursday I have a return appointment/x-rays with my spine dr. to check up on my cervical spine instability from the EDS..  Every time I get a new set of x-rays, there's been a slow increase in vertebral slippage, so we'll see how it is now.. :/

Trying not to stress or grow discouraged about it, but starting last week, I've been losing my grip in my right hand. :(  *sigh*  Seriously, something new always comes up every 2-3 months!  It's hard to explain, but this seems more than just weakness.  For example, I was holding my phone in my right hand the other day, and I suddenly dropped it on our hardwood floor because my grip didn't stay.  Another time last week, my mom trimmed my bangs, and I held newspaper underneath to catch the cut hair.  My right hand grip of the paper suddenly let go.  It's as if my brain is not sending signals to my hand...  My neurologist is usually booked out months in advance, but by God's grace, she has an opening two weeks from today.

I hate that my case is always so complicated. :[  I've never had something as simple as a broken bone....I don't have a common disease like arthritis or diabetes or heartburn.  Instead I have disorders people have never heard of---all my genetic mutations are associated with diseases like distal hereditary motor neuropathy, central core disease, charcot-marie-tooth disease, minicore myopathy, malignant hyperthermia, mitochondrial disease, and many others.  What makes things worse is that they're all similar in nature.  And THAT'S why I'm a hard case for my doctors.

And IF this new symptom is related to distal hereditary motor neuropathy (a motor disease of the spinal cord) or the like, pray that I won't go crazy from all these countless diagnoses.  Serious!

"It seems like there's so much to hope for

So many dreams I wish they all could come true

But when I think about Your ways, Lord

It gives me so much faith in all that You do

Faith to see beyond what I can see

Faith to know that You will do great things

I will trust You, Lord, I'll always believe

As I hold onto my faith,

Jesus, You are holding onto me"

~partial lyrics from one of my favorite songs

Appointment updates!

This past Monday, I had a long day of speech and physical therapy back to back.  My speech language pathologist and her colleagues notice that I speak with my throat muscles instead of with my diaphragm.  Because of my muscle weakness, I'm not able to use my diaphragm 100%, so I'm compensating by speaking with my throat muscles.  Yes, it turns out that IS possible as weird as it sounds. lol ;)

But, we're supposed to only use our throat muscles for swallowing purposes...  So because I'm using those muscles to speak AND swallow, I'm fatiguing them.  And THAT is why I experience choking.  Soo, Speech (together with physical therapy) is going to try and strengthen my diaphragm muscle...

That whole day of therapy, though, did me in. :(  Later that night, I could hardly move my diaphragm because it was so fatigued!  I couldn't breathe well at all.  It was scary, and I almost wanted to go to the ER again.  That's why Congenital Myasthenic Syndrome (which the doctors are thinking I also have) is often fatal in babies because they stop breathing. :(

Thankfully, I had my CPAP (continuous positive airway pressure) machine, and that helped somewhat.  But it's going to be a hard challenge to find a balance and not overdo things in future therapy sessions.

On Tuesday, I had a follow-up with my physical medicine dr.  Back in December, Orthopaedics at Cincinnati Children's had me get my first scoliosis x-rays (specialized x-rays of the whole spine from top to bottom).  It turns out I do have some scoliosis.  My spine is curving to the right. :(  Dr. C wasn't expecting this (including me!).  This curvature is probably why I've been dealing with chronic spine pain..  Dr. C isn't sure if this started when I was a baby or if this is a new problem, so he wants to monitor this.  I'm to get the same x-rays done this December to check up on it.

Dr. C is referring me to the Neuromuscular Program at OHSU, and he also put in an order for me to have a walker.  I'm as surprised as you are! ;)  But the walker will just be for home to help me with my abnormal gait and so that I can move around a little more easily in our home.  I hope I can pick my own color like I did for my wheelchair. :)

Next month, I have an appointment with Dr. C's brace clinic.  Not sure what to expect with that, but maybe I'll be able to get rid of the crutches!

"We should see God as the Source of all good and our Sustainer through everything bad.  God alone is the Fountain of Life."

~Randy Alcorn

First post of the new year!

The day after Christmas, I had my first speech language pathology appointment with the swallowing clinic at OHSU.  The therapist wanted me to get a FEES study (fiberoptic endoscopic evaluation of swallowing) done to take a look at my vocal cords, etc.  For the 5th time that month, I had to go through yet another tube insertion through my nose...!  Those hurt so bad. >.<  Hopefully that will be the last for a long time..

Here is a video of my vocal cords moving in real-time.  But only watch if you like that kind of medical stuff. ;)  I hope the video works...I know a few of the pictures in my last post didn't show up!  If you do watch, that arched structure is my epiglottis, and those white-ish things are my vocal cords. lol  Pretty fascinating! ;)

This past Monday, I had my first modified barium swallow study and another esophagram.  

Tuesday I began physical therapy again---I'm now seeing a new therapist at OHSU, one who specializes in neurological/neuromuscular diseases.  Next week, Lord willing, I get to try this new contraption, sort of like a robotic leg. ;)  He wants to see if this will help me walk more easily with my left-sided weakness.  Sometime in the future, he is also going to have me try these leg braces that will hopefully make walking easier as well.  I'm excited to try both!

Yesterday, I saw an allergy/immunology dr.  For the past several years, I've been getting big canker sores in my mouth almost every other week. :(  I had a very extensive allergy test to see if any foods are the cause of them.  Thankfully, I'm not allergic to wheat, dairy, citrus, etc.  I'm so glad.  I am very allergic to all kinds of trees, grasses, molds, pollens, etc.  During the test, I developed huge hives and swelling all over my arm!  It was horrible!  I'll spare you the gross pictures. ;)

Since food is ruled out as the cause of my canker sores, he's now not sure what's going on.  Maybe it's because I have Ehlers-Danlos Syndrome and my connective tissue is not strong.. ?

Next week, I have speech therapy for my voice/swallowing issues, physical therapy, and a follow-up appointment with my physical medicine doctor!

P.S. 5 of my doctors (my spine surgeon, physical medicine doctor, GI specialist, sleep medicine dr., and even my podiatrist. lol) made Portland Monthly's Top Doctors issue for 2014!  Almost all my other doctors made the top docs list in 2013.  I really am so blessed with such great medical care! =)