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
Dear friends, I just wanted to thank you all so much for praying for me during my abdominal surgery on August 6th! 💚 All of your messages/emails really encouraged my heart! If you missed my previous post, I had to have an unexpected surgery to take down the jejunostomy tract and repair an enterocutaneous fistula (a rare complication from having a j-tube for 12 years). I truly felt your prayers, and the Lord answered so many of them as well! 🥹 My surgeon only had to remove about 1 1/2 inches of my small intestine which is great news! I was in the hospital for 4 days because my blood pressure was low and pain control was rough (it’s a long story, but pain management is complex due to a specific medication I take daily at home..). But aside from that and having an allergic reaction to the surgical glue, I’ve been healing well. Thank you again for praying!! God has been so faithful throughout this journey. I got a visit from my sweet foster nephew when I was in the hospital (2nd picture)! 🥰 I can’t wait until I can show you his face—he’s so adorable. 🩵 I’ve mentioned this before, but an important medication I take causes severe insomnia (still not falling asleep until anywhere between 3 AM-9 AM). 😞 But I saw my naturopath this past Monday, and she’s going to treat me for suspected cortisol spiking up during the night (which disrupts the body’s circadian rhythm). I’m thankful for the wisdom God gives her, and I’m excited to see if this treatment will help! It will take 6 weeks to see if there’s any benefit, but I first have to specially order it..
"God is our refuge and strength, a very present help in trouble." -Psalm 46:1
Hi, friends, I thought I wouldn’t be posting for a while since I’ve been doing really well, but I’ve hit a bump in the road again and would appreciate your prayers. 💚 This past Tuesday the 21st, after nearly 12 years living with it, I had my jejunostomy tube removed completely. I thought it was going to be a simple process and that the stoma (hole) would close quickly within 30 minutes like they said. That didn’t happen, though, as the stoma started draining a ton! I couldn’t even leave the lobby and had to go back up to the clinic on the 8th floor to have an ostomy bag placed to collect all the small intestinal digestive juices that continually drained. Unfortunately, I’m experiencing a very rare complication called an enterocutaneous fistula. 🥺 I’m disappointed this is happening, but I’m not exactly surprised since my whole medical case with Mitochondrial DNA Depletion Syndrome has been rare from the very beginning.. I also don’t heal well due to connective tissue problems from Ehlers-Danlos Syndrome (case in point: my port site issues back in May when I had to have a new one surgically placed on the other side of my chest).. 😞 The clinic told me to keep emptying the ostomy bag and monitor the output. It wasn’t a fun 2 days. This whole process has definitely made me so grateful to God that I’ve never needed something like an ileostomy! TMI, but I lost almost a whole pound of fluid because so much was gushing/spurting out of the stoma every time I ate or drank. Losing so many electrolytes, I started experiencing symptoms of dehydration—weakness, high heart rate, and headaches. So yesterday, I had to go back and see the surgery resident who basically placed another j-tube (it was so painful again!). 😭 This is a temporary “plug,” and I’m bummed to say that I have to go to the operating room to have the jejunostomy tract taken down and the fistula repaired. This surgery will be happening as early as next week (it depends on my surgeon’s schedule).. She said it will be complex, especially because adhesions (scar tissue) form when a person has multiple abdominal surgeries.. I lost count what number this surgery/procedure will be, but I do know I’ve had more than 20! 😞 I know God is with me wherever I go and will supply me with the strength to endure yet another surgery like he always does. But, I’m still sad that I have to have more incisions added to my body. I shared the lyrics to this song before on an old blog post (the song is called It Is Well With My Soul by Matt Redman), but it immediately came to mind again when I was thinking of scars. As the song below said, it’s a reminder to me that my scars can be a testimony to others of God’s grace in my life and how he has brought me through every single pain and sorrow. In the Bible, I’ve always thought it’s so neat that Jesus still had his scars after he rose from the dead—he had a new body, and yet, his scars were still visible. ❤️ Our scars are a sign of grace in our lives Oh Father, how You brought us through When deep were the wounds And dark was the night The promise of Your love, You proved Now every battle still to come Let this be our song It is well (it is well) With my soul (with my soul) It is well, it is well with my soul
