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.
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!
