Update 7/15

I apologize for not updating sooner. I had an appointment with a mito specialist from Children's hospital, and she added a few new supplements. Well not really new but ones that I had stopped. Co Q 10, I had stopped because it gave me a rash, and B Complex. I had stopped the b's due to money. But they did help and I have started taking them again. (The b's themselves are not that expensive...but when your buying a lot of them it is!) So I also got a list of things that I have not done yet.

- Blood work - OK I got this done right away, but only because I had to get it done before my IV therapy. LOL
- Cardiologist - I need one. I need to have a work up once a year. An Echo specifically.
- Ophthalmologist -I need to start seeing one of these too. I have a pretty bad vitamin A deficiency right now, I wear sun glasses any time I'm out and since my eyes are not adjusting to the light difference I don't take them off!
- Physical therapy - They've actually suggested this before but I didn't have health insurance. Now that I do I might be able to get a few appointments in...but Medicare only covers so much. They also suggested aqua therapy. Man I miss not having a pool!
- Swallow study - I had one done last year, but I have started to have problems swallowing.

http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934631
Mito symptom listing

I have to go back, of course; with all of these things. I'm still getting my words mixed up. You know that moment when you forget the word you want to say...but its on the tip of your tongue? That happens to me all of the time. Maybe 6 times a day on average. So that is a concern.

I still have good days and bad, since getting a different dose of the Co Q 10 and taking my B complex every day I've had more energy on a good day lately. Now if I could just get rid of those days where I wake up and can barely move!
I'm not sure that I have mentioned it on her but I started Protonix, and it is amazing. It really helps! I still take enzymes of course, 6 - 8 with meals; but the Protonix really helps with my GERD. I have been doing letterboxing with my husband and daughter so that is getting me out of the house! Plus I have a friend who has a "games day" at her house every now and then, and we play D & D at my house every week. I think that getting outside and participating in social gatherings with friends and/or family is helpful for those of us with an illness that restricts activities. For me it really helps my mood. It's easy for me to feel down, so the little things are what keep me in a happy mood.

Nervous Nelly

So I'm nervous. I have an appointment with my specialist (for mito) on Wednesday. I am not sure what she'll say. Part of me wants her to fix it,
for her to make the pain and fatigue go away. But the logical part knows that is not a possibility. You see, I try to stay optimistic but both of my
diseases are progressive. I have friends with CF (online) and I have seen their struggles. CF progresses at a different rate for everyone, and we
won't all have the same problems. BUT my CF doctor has told me what problems she for sees me having and I have a general idea of what could
happen. I don't have that luxury with mito.

That's right, no idea. Not with my rare mutations, they can't tell me what I may develop. They know that this mutation effects my muscles, nerves,
joints, and most likely my liver. But they weren't able to warn me about the digestive problems. They had no idea that I would have a difficult time
absorbing and digesting, no idea that I would start to forget words, and forget my train of thought. In the car for Mothers Day...Kate says, "Mom I
love you" and attempting to say "I love you too" I said "you're welcome".

WTF? REALLY?!?!?!



That is a whole other rant for another day. Anyway, I would just be happy if it was easier. But no one ever said life was easy. I know there are others
out there who wish life was easier, so I'm not alone. I'd like to think my struggles are teaching me compassion and trust, not to mention they keep me
humble. I'd never be me if I were healthy. I know it. I've learned things that my healthy friends and family have yet to understand. We all "get it" in
our own time, I think.


I am a warrior. I will fight to be me, and I will fight to stay healthy. I'll have to stay on my toes because I'm fighting blind, but I have support and love and I know I can do it.

French Fries fix everything...until you eat too many

So a lot has been happening in the world. Family has been sick and friends are hurting, it has been a tough year so far. Through it all, a problem has been niggling in the back of my mind. I am getting worse. I have been trying to rate my pain and fatigue every day. The fatigue has stayed the same. But the pain hasn't, the past few weeks I have not been lower than a 5. I have been taking lyrica every day, and a vicodin at least once a day (usually to help me sleep).


I love my primary care doctor, I think she is wonderful.She absolutely thinks outside of the box, which is what a zebra like me needs. Some of you know the reference but for those who don't; zebra is a slang for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so "zebra" is the broader concept. It came from the saying, "When you hear hoof beats behind you, don't expect to see a zebra". http://en.wikipedia.org/wiki/Zebra_(medical)



So as I said, I need someone to think outside of the box. But I also need a specialist. So I contacted one of the doctors that discovered my mutation and wrote an article on me (http://www.ncbi.nlm.nih.gov/pubmed/12400067). I'm excited that she says she is going to see me! I can't wait! Don't get me wrong, there is no cure and I know that. Not yet anyway. But there could be a better way to treat this pain and discomfort.



In other news, our new dog is doing well. My daughter has a job in a kitchen, and loves it. My husband is doing well too, except he fell down our steps the other day. He only fell down the last 4 but he landed flat on his back. He has been sore for the past few days but he seems to be doing better. I also got to hang out with my BFF, Jessica. I have been resting and not really doing anything, but when I had the chance I hung out with her! She lives far away, I could drive to her house more often....if I could drive more often. Anyhow we went out and got french fries which are a cure all. That is until you eat to many, then they are the problem! Jessica and I lost touch for years, and a few "best friends" filled in. But they paled in comparison to Jess. I'm not saying she doesn't have flaws, but her flaws compliment my own.



All in all, I really do have a blessed life. What is illness when you have the kind of family and friends I have?

Doctors visits, treatments and medication, oh my!

It has been quite some time since my last post, so I have several topics to cover. First IV therapy and my port, Dax. Things are going well in those areas, the port is one of the best decisions I think I have made for my health. It is just so much easier now to get IV therapy! I am still getting the multivitamins, minerals and lipids and they have added amino acids to the mix. Well not really, because it is in a separate bag. So now I get 3 bags and it takes 5 hours (average). Depending on whether or not I have labs. I get them every week. I have the weekly labs and every other week they add in a PT INR and once a month I have a HUGE list in the place of those. I enjoy getting the IVs, I think of it as a spa (LOL). I go in 3 days a week, so it is exhausting but I think it is helping.

When I say helping, I don’t mean it stops the pain or anything, hell I don’t really think it is doing much for the
fatigue either. My Dr. says that my numbers are getting back up; I think she is hoping that my numbers would go up and everything would fall into place but I’m not that easy. Plus there is a national shortage on lipids so I haven’t been
getting them for the past 2 weeks. My cholesterol has dropped since then, and my Vitamin A is still undetectable and my
D is still low, I’m slightly anemic; but other than that my numbers are better. My Dr. also gave me 4 new prescriptions
to start off the year, and they seem to be helping too.


In family news, we got another dog! His name is Mack and he is really cute and very funny. He is 2 so he needs a lot
of play time, which has really helped me try to be more active. My doctor had said something about starting physical
therapy, but with flu season she decided I should try to do more at home to start off. I go out every other day to
throw a Frisbee and walk around the yard. He is really gentle with me so I’m positive he knows that I am sick.

My Dad has been in the hospital this week, so I canceled all of my IVs so that I could go in to see him. Unfortunately
driving back and forth 3 days a week is too much. I wasn’t able to go see him yesterday or today. Yesterday I was just
so tired, and today I can barely walk without pain medicine. I even had lunch delivered because I couldn’t stand. Dad
was very understanding and told me not to worry about it. He is a pretty private person so I won’t say what was wrong
but I will say that he is doing better, they may release him on Monday. I am so happy that he is doing better; I have a
tough time dealing when I am not the patient, LOL. I am a self admitted control freak!!

Doctors appointment

So yesterday I had my first doctor’s appointment with my primary care doctor in over a year. It went well; but the news was not good. I’m not sure how much sense that makes; it went well because she immediately ordered treatments and medications.

So at my hospital stay in February I was in NIH, where I get treated for my cystic fibrosis. I had several consults that visit to try to get someone to help me with my mitochondrial disease. They did a ton of lab work while I was in, but I still could not be fit into a study for the mito. So yesterday my doctor looked over my copies of my labs and she freaked out. Freaked. Out.
My test showed severe malnutrition. Because it isn’t CF related, but rather mito related, NIH knew about it…and did nothing. So the reason I have been feeling progressively worse over the past 7 months is because I am still not absorbing enough vitamins, mineral and fats and according to my doctor my body is slowly starving to death. I’d like to think she was just being dramatic. (NIH did nothing because I didn’t fit into a current protocol, and as a government run hospital- I have to fit or they can’t help.) Anyhow I got a copy of my records for my SSDI hearing, and brought it along with me, b/c I knew some of my levels would be low and that my CK was 3294 (normal is 38-252). My prealbumin level was low, which is an indicator of malnutrition. Not to mention my Vitamins A, C and all of the B vitamins, selenium, iron and magnesium were low; my Vitamin D was undetectable. Oh…and my cholesterol was 80; which is too low. So she sent me for blood work, and is rechecking 21 of the labs to get a base line. Next comes the IV therapy, which I am really happy about. She is planning to double the dose I got last time, which was doubled from a normal dose already. I’m excited to start IV therapy again and I can’t wait to feel better. In addition to the IV therapy I have 9 new prescriptions, which include things to help with my pain. YAY! My doctor is also sending me to get a port (double?) which I am nervous about but so many people who I am friends with on Facebook have been able to give me information on the process. I am so grateful for them.

Now I know a lot of you probably looked at my picture and thought malnourished? This chick is fat!! While it is true I don’t *look* malnourished, sometimes I don’t *look* sick at all. I get very frustrated with some family and friends sometimes. I don’t like being treated like a sick person, but I am. I do a good imitation of someone who is just a little tired, and I'd like to think I can still pull of acting healthier than I really am most of the time. I don’t want pity, but just consideration or even acknowledgement would be nice. Maybe that is selfish of me?

Anyhow, I haven’t been able to lose weight for years and I haven’t gained either. I have staying within 10 lbs of my current weight. I can’t exercise due to my mito issues (although with my new pain meds I am hoping that I can start something light) but my biggest issue is that (according to my doctor you have to absorb fat to be able to burn fat. Sounded weird to me, but this article explains it
http://www.livestrong.com/article/557726-eat-fat-to-burn-fat/
I eat pretty healthy, although my portions are huge and I almost always feel hungry. My doctor says I feel hungry and eat large portions b/c I am not absorbing what I need from normal amounts of food. So my body always wants more.

Frank and I discussed telling our friends and family and what we would say. My doctor is on top of it, and now that I have health insurance I can start treatments in addition to the new medications. I don’t want anyone to worry, but I want to keep everyone updated.

Mitochondrial Disease

This week is mitochondrial disease awareness week. I have been making posts about it on face book but to most it will just be a flash in their news feed, so I wanted to do a blog post. I know I don’t have a lot of readers but I hope that you will think about posting something on your blog of your face book to help spread awareness. Mitochondrial disease is different for everyone, just like cystic fibrosis; we are all going the same direction but we have different paths. For more information on mitochondrial diseases please go to umdf.org

My mito:

I have two rare mitochondrial mutations. One my mother has the other the doctors said is a spontaneous mutation never seen before. The spontaneous mutation is disease causing.

My symptoms currently are:

Muscle weakness & fatigue
Muscle cramping and pain
Muscle spasms
Nerve pain (tingling and numbness)
Joint pains
Bone pain (or at least that is what it feels like)
General tiredness/fatigue
Absorption issues which cause:
Memory loss, easily confused, problems with digestion, dry skin, poor night vision, dizziness, and mood swings.

I don’t have all of these symptoms at once; sometimes 3 or 4 at a time, sometimes only one (those are my good days). I also have cystic fibrosis, so I kind got hit with a double whammy. Two diseases with no cure, a genetic gold mine. (joking) I just got approved for SSDI and I have medicare now, so I will be able to get to a doctor and possibly try some new medications and other treatment options. Before I lost health insurance I was getting IV therapy (vitamins, minerals, and lipids) and they were talking about me trying some physical therapy.

The UMDF website has some good information on mito and all of the possible symptoms. Mito can effect many different bodily systems and functions. A list can be found at umdf.org

What is Mitochondrial Disease?

“Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common. Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection.”

A fighter.

So a few weeks ago I received my notice in the mail. I am officially disabled, according to Social Security Disability. It's been a tough 4 1/2 years, for those who know me the one thing I hate is that admitting I am sick. I'm not able to do the things I used to do, and I'm not getting better. I have been using this blog as practice; because we all know how much easier it is to type your feelings than to voice them.

So I'm still waiting for all of the specifics to get it, but the waiting for a decision is over. And I am happy. I'm happy that I no longer have to "prove" that I am sick and unable to work; happy that I have finally been approved and it is one thing that my family and I no longer have to worry about; happy that I can apply for Medicare. I've got this small part, negligible really, that is not happy. I have a great life and I am so blessed but I want more. I want to be able to walk around without having muscle cramps or pain in my joints. I want to be able to work, I really do. To support my family would be great; I enjoyed working while I was doing it. I wish that I could make it through every day without a nap, to drive the car where ever I want without concern about fatigue and pain.

I have learned the hard way that life is not what you expect it, but it is what you make it. I try to spend my days being thankful for what I do have. Which is a lot compared to some others out there. I will play the cards I’ve been dealt the best way I can, and I hope that people around me will notice my fight instead of my struggles.

http://www.youtube.com/watch?v=bxV-OOIamyk


"Give 'em hell, turn their heads
Gonna live life 'til we're dead
Give me scars, give me pain
Then they'll say to me, say to me, say to me

There goes a fighter, there goes a fighter
Here comes a fighter
That's what they'll say to me, say to me, say to me
This one's a fighter"


I've had people say to me, "I'm not sure I could deal with what you have to deal with". I'm not special, I think we all have a little fight in us. You just won't see yours until you need it. So don't sell yourself short.


"Give 'em hell, turn their heads, Gonna live life 'til we're dead"




(Lyrics from Gym Class Heroes song, Fighter.)