This week is Mitochondrial Disease Awareness 2016! 🙂
I just thought I’d go right in and share a little bit about mito in this post and how it affects so much of the body.
I have a mitochondrial depletion disorder which basically means I have less mitochondria than the normal person. My depletion is very significant. 🙁 You might ask, What are mitochondria? In simple terms, mitochondria are the energy powerhouses in every cell (except red blood cells) that make ATP. Every organ in the body needs energy to function. Without enough energy (ATP), numerous medical problems result. Because of my mitochondrial disease, all of this happens:
-Severe fatigue (I sleep 16-18 hours every day)
-Chronic neuropathic pain
-Use of a BiPAP machine due to sleep apnea
-Myoclonus (muscle jerks day and night)
-Nystagmus/oscillopsia (my eyes oscillate which feels like an earthquake in my head)
-Hyper reflexes due to a problem in my spinal cord
-Generalized slowing on EEG
-Myogenic bilateral ptosis (drooping eyelids)
-Left eye ophthalmoplegia (“paralyzed” eye muscles)
-Hypotonia (low muscle tone)
-Hypoglycemia (low blood sugars)
-Low blood pressure which causes high heart rate and lightheadedness
-Abdominal pain and distention
-Failure to thrive
-IV nutrition every night through a central line in my chest
-A jejunostomy feeding tube in my abdomen
-Daily IV magnesium with potassium for hypomagnesemia (chronically low blood Mg levels from renal magnesium wasting)
-Hives/itching due to mast cell hyperactivity
-Tinnitus (ringing in ears) with partial hearing loss that comes and goes
-Tremor (especially noticeable with daily activities that require fine motor skills)
Because of mito, I have more than 20 different specialists who care for me:
Physical Medicine/Sports Medicine
It can get overwhelming to have so many symptoms and so many doctors.
But as you read all this, please don’t feel sorry for me.. Rather, I’d like you to be aware of this disease and how it dramatically affects a life.
This journey has been extremely difficult, challenging, eye-opening, discouraging….. And at times, I wonder how much more my body can take. I can’t go to college and pursue a career like other young people my age. At this point, I can’t “work” because I have 2-6 doctor appointments every. single. week. 🙁 I often wish I could do “normal” things like other “normal” people.
But I also am filled with joy that I can share in Christ’s sufferings (1 Peter 4:12-13). And I remember that the Lord has chosen this path for me. I may not know the reason why in this life on earth, but I know that He is good, and I trust Him (Romans 8:28).
I can’t remember if I posted this before, but one of my close friends shared this beautiful quote with me—it sums up everything perfectly:
“Perhaps there is also something in your life causing you to question God. Do you find yourself saying, ‘I do not understand why God allowed my loved one to be taken. I do not understand why affliction has been permitted to strike me. I do not understand why the Lord has led me down these twisting paths. I do not understand why my own plans, which seemed so good, have been so disappointing. I do not understand why the blessings I so desperately need are so long in coming.’
Dear friend, you do not have to understand all God’s ways of dealing with you. He does not expect you to understand them. You do not expect your children to understand everything you do—you simply want them to trust you. And someday you too will see the glory of God in the things you do not understand.” ~J. H. M.
This awareness week is halfway over, but every blog post I write, I want to continue bringing awareness to this progressive and terrible disease. So many babies, children, and adults suffer with mito, and I know there are many medical professionals and people who haven’t even heard of mito! Before this journey started, I never even knew there was a disease like this where you can look so normal on the outside but have so much wrong on the inside..
P.S. I mentioned in my last post how I started experiencing an atypical headache. Well, it’s still not gone and is going on 3 1/2 weeks now. 🙁 On top of that, my eyes have been oscillating (nystagmus) for more than 2 weeks, and it has never lasted that long! I get ever so nauseated each day from all of this and feel so unwell. 🙁 Something’s just not right, so I’m in close touch with neuro-ophthalmology, primary care, neurology, and pain medicine. I have to get a brain MRI on Friday which will be my 20th MRI scan… My doctors are trying to figure out if this is related to my mitochondrial disease or something new.
P.P.S. I found out that my muscle biopsy tests through Baylor haven’t even been started yet. 🙁 They’re still waiting on insurance authorization. Waiting is so hard!