Mito appointment update 1/20/2015
Kerissa • January 21, 2015
Hi, everyone!
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!
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!
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!
Kerissa
Hi, friends, First off, the piece of art above was hand lettered by me last year before all “this” happened. I’m sad to say that I only have 3 or 4 pieces left to share until I run out.. 😢 I went to see my neuromuscular neurologist in Seattle on January 8th. My neck weakness continues to progress which has been so scary. He said I need to get a neck MRI and some specific blood tests to check for polymyositis. If it is normal, though, his opinion is that this is mitochondrial disease progression. 😔 I haven’t seen my mitochondrial specialist in San Diego in more than 3 years (I started seeing him in 2014!), so I’m sadly no longer considered his patient. The neurologist sent a new referral to him, but I’m not sure if it will be accepted.. He’s almost 80 years old (one of the pioneers of “mitochondrial medicine”). And I don’t know if he’s cutting back on “new” patients.. Even if he did accept my case again, I’m currently not physically well enough to fly down from Oregon.. 😞 My quality of life continues to worsen ever since this unusual neck weakness started this past October. I know I’ve said this before, but I truly miss doing all of my favorite things (like hand lettering art) or even simple tasks (setting up my own IV infusions, vacuuming, washing hair, etc.). 🥺 Before October, I was even starting to drive to physical therapy or the grocery store. Yes, I’m 32 and still don’t have my driver’s license due to being preoccupied fighting mitochondrial disease for almost 15 years now. I never shared the exciting news that I was able to get my driver’s permit over 2 years ago, and it was so fun to drive myself to appointments close to home. Now, I can’t do any of the above which has been difficult to process. I shed tears every now and then just thinking about all that has changed. 😢 I’m having to go to bed around 6:30 PM to lie down and rest my neck. But I’m so uncomfortable from the pain, and I don’t fall asleep until after 3 AM every night. So my pain dr. referred me to palliative care. 😢I know it’s not hospice, but I’m still sad we’re at the point where I even need palliative care. Unfortunately, they’re most likely going to deny the referral (if they haven’t already) because we were told they only see cancer or heart transplant patients. I even checked if there’s palliative outside of OHSU, but they, too, see only oncology. It’s so hard that cancer gets a lot of funding, research, and support, and those with rare diseases are left “on their own.” It’s isolating and lonely. 🥺 I saw my PCP again, and he is just the best and full of compassion. ❤️ He placed the neck MRI as urgent and also ordered more labs to keep pursuing answers since all this is such an atypical picture if it was mito progression.. In case palliative turns my case down, my dr. told me that the internal medicine clinic has a complex and chronic pain management clinic (different from the pain center that I’ve been going to since 2011). He referred me to them to try and help me get more comfortable. I have a wonderful team of doctors and an amazing naturopath, but I’m even going to see a functional medicine doctor for the first time on the 23rd. Praying he could maybe have some additional insight on everything and will offer some fresh ideas for treatment as well.. I also have an appointment with the metabolic geneticist on the 28th.. I’ve read through the Bible more than once, but it’s amazing how the Lord points us to specific verses at just the right time. I don’t know about you, but sometimes I think, “I don’t remember reading this before!” Paul David Tripp’s newest devotional Everyday Gospel has been so very encouraging. He shared 2 verses from the book of Genesis where Jacob said that God “answers me in the day of my distress and has been with me wherever I have gone” (35:3). Several chapters later, Jacob also said that God “has been my shepherd all my life long to this day” (48:15). When I read that, I felt such peace. God spoke to my heart to remind me that He is with me and for me….in every circumstance no matter how hard. ❤️ Could you please pray that I can have the MRI completed this month and not have to wait many weeks? Pray that all of my doctors will have wisdom as my case is so complex. Lastly, could you pray that I will persevere and keep walking by faith? I feel so weary, not only physically but also mentally and spiritually. 😥 Thank you so much for praying for me all these years. ❤️
"He alone is my rock and my salvation, my fortress; I shall not be greatly shaken." Psalm 62:2
“Be still, and know that I am God.” -Psalm 46:10
