Well, the appointment with my mito specialist is finished. Lots of things to process now, but here’s the rundown:
1. My dr. agrees and notices that I’m getting worse medically.. It’s only been 6 months since I last saw him, and he already sees a difference.
2. As I mentioned in the past, more than one thing is going on…the mitochondrial cytopathy (which affects all the cells in my body….this is not just a muscle disease) and spinal cord/nervous system abnormalities—worsening left sided weakness, foot drop, and something called “mirroring” which is not good at all. Basically, when I grip or squeeze my right hand, my left hand does the same thing and mirrors my right hand…it’s not nice and pretty creepy. :/ In children, this can be normal because their brain is still developing, but since I’m 22, something’s wrong and my brain is not suppressing this “action.” This indicates a decline in my brain/spinal cord function. He ordered more brain/upper spine MRIs to again check that everything is fine structurally. Hopefully I can get those done with the pending foot/ankle scan.
3. Regarding results, one mutation found in my muscle (and blood) keeps coming up. So my dr. is zero-ing in on this because it has never been found before in genetics. What’s puzzling, tho,’ is that my mom has it in her blood and she’s asymptomatic. So, this may or may not be “it.” He’s ordering more tests to check the number of mitochondria that I have (to rule out mitochondrial depletion disease). He’s also sending in my skin fibroblasts that were biopsied in June to analyze my mitochondrial super complexes. That biochemical test he wanted done to check electron transport assays is still pending in New York….what’s worse is, it may not have even been started yet…they’re looking into this now. 🙁
4. At my last appointment with him, he mentioned that we may need to resort to Whole Exome Sequencing which looks at over 30,000 genes (2% of my DNA…!). He is going ahead and ordering that test….it takes approximately 24 weeks to be completed….ugh. 🙁
5. I can’t stress this enough—mitochondrial medicine is soo complex. Mito can be caused by the structure of the mitochondria….it can be caused by the function of mitochondria….that’s why doctors have to look at the biochemical side of mitochondrial disease, they have to look at the electron transport chain and the five complexes, they have to figure out if it’s primary versus secondary mitochondrial disease (secondary is caused by genes outside of the mitochondria that affect mitochondria!), and the list goes on. Complicated, right? :/
6. You probably want to know about treatment. 🙂 Well, all potential drugs are still undergoing FDA approval or going through Phase 1 or 2 trials. Soo, that will be a while before I can possibly go through one. In the meantime, my mito specialist is adding more supplements to my “mito cocktail.” He also wants me to take creatine, and I really pray that can help my energy level because I’ve been needing to sleep 15-18 hours a day lately!
I hope I answered any questions you may have! 🙂 Thank you for taking the time to read through all this. Also, I haven’t been able to reply to some of your emails yet, but I just want you to know that I’m so grateful for your prayers!
Next month, I have a lot of follow-ups with GI, neuro-ophthalmology, cardiology, etc. Plus, I have to get all those pending MRIs done.
I thank God for all of you who are on this journey with me! 🙂