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!
Monday, June 30, 2014
Tuesday, June 17, 2014
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! :)
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! :)
Wednesday, June 11, 2014
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!
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!
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