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!