Mutants Unite, Cystic Fibosis Survey and an update!

Hello all! I'm in a pretty good mood today, despite not feeling 100%. I've been having an even harder time than usual with coughing and wheezing. Saturday is a busy day so I am keeping my fingers crossed that I feel well enough. I'm having lunch with my best friend, Jessica, and other mom's. Jess is going to have her first child and I thought it would be nice to just get together and just support her. Later that night the cemetery my Grandmother and Grand Donald are buried in is having a candle light vigil. I'd love to be able to do both so I have been trying to take it easy this week.

We had Thanksgiving at my house and my daughter cooked dinner. A friend of hers from her culinary classes came over to help, as well as an old family friend. It was a really nice dinner with two stuffed turkey breasts and a pork crown roast, for sides we had creamed greens, green bean casserole, sweet potato puree, mashed potatoes, stuffing, gravy and cranberry chutney. It was so good! Frank's parents and my parent's were here too, which just made everything better! I love spending time with the people I love, so they day was just awesome!

I got an email a few weeks ago asking me if I could use my blog to ask for CF patients who would be willing to help out the Cystic Fibrosis Foundation by answering a few questions. Specifically adults with CF. They are conducting online discussion groups and interviews with adults to learn more about what we need and how they can better serve our needs. Will you sign up to participate? Cut and paste the following link:

http://dimensions.edgeresearch.com/e.asp?p=CFF1301&S=C&ps1=c

Oh and I have to show my husbands latest tee shirt designs!! When I was first diagnosed with CF and mito we joked with my doctors about me being a mutant, maybe possibly I'd be able to join the X-Men. LOL Flash forward to this month my husband has designed tee shirts inspired by me and that discussion so long ago. I know I'm not the only one to call myself that, so I wanted to share his work! He has designed a mitochondrial mutant shirt

You can buy it on teepublic.com https://teepublic.com/show/8056-mitochondrial-mutant-in-black
or get it as a hoodie on redbubble.com at http://www.redbubble.com/people/cfdunbar/works/11166939-mitochondrial-mutant

The next shirt is inspired by cystic fibrosis

This one is also available on teepublic.com https://teepublic.com/show/8051-respiratory-mutant-in-black
or as a hoodie on redbubble.com http://www.redbubble.com/people/cfdunbar/works/11166952-respiratory-mutant?ref=work_main_nav

Later we discovered that I also had a blood clotting issue, so the next shirt is inspired it

Again this is available as a tee shirt at teepublic.com https://teepublic.com/show/8060-blood-mutant-in-black
or as a hoodie at redbubble.com http://www.redbubble.com/people/cfdunbar/works/11166972-blood-mutant


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Clinic and other things...

So I had clinic on the 30th, and after not going in a year I expected to get flak from my doctor. Which I did. My PFT's were 74%, I got blood work and a sputum culture. All in all other than some shortness of breath and wheezing problems recently, I think CF wise I'm doing OK. *Knock on wood* I do have a DEXA scan and an EMG/NCV test coming up, but I expect them to go well. My primary doctor's office called in reference to labs I get for them (when I get IV's) and I some of my results are still low, despite increasing my dose. So I have some more supplements to take... YAY. More pills.

In other new, my husbands tee shirt designs are getting out there and doing well!
On Facebook - https://www.facebook.com/CfDunbarDesigns
On Twitter - https://twitter.com/CFDunbarDesigns

His designs are on:
Tee Public - https://teepublic.com/user/cfdunbar
Red Bubble - http://www.redbubble.com/people/cfdunbar/portfolio

He is actually working on two designs for me. One for cystic fibrosis and one for mitochondrial disease. I'll post the links for each on here when he gets them done. They aren't really awareness shirts, I mean you may get some questions but the idea was definitely not to fundraise. Although we will be donating a portion of his profits to each respective foundation. I don't define myself by my illnesses but I certainly feel as though they have helped to shape who I am.



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The painful adventure

Last night my husband and daughter both came home exhausted. I hadn't been having a great day either, as I hadn't taken my pain medicine the day before. We just ran out, and had to wait for the cash flow to pick it up. When we went the pharmacy didn't have enough for the full script so I only got a partial. Anyhow...

We decided to go to IHOP so we could have a no effort dinner, with pancakes of course. I got an omelet covered in hollandaise, so basically a plate full of eggs and cheese. YUM! I had some problems getting in and out of the car, but our handicap tag was a big help (so we didn't have to park to far away). While eating my feet became increasingly hotter and more agitated. I got up to go to the bathroom and I thought my legs were going to explode. When we're in public I do my very best to not look like I'm having a problem, and last night I tried but failed horribly. Frank and Kate knew right away that I was getting worse, and when they remembered that I had missed my lyrica the day before they new a pain storm was beginning. A pain storm is what my husband calls it, I call it hell, but tamato/tomatoe.

I finished my dinner because I knew I was going to need a full stomach for my meds. We got home and I get inside and go right up stairs, better to do it when I'm in pain than to wait and possibly cause a flare up. So Frank and Kate helped me up the stairs and started a running a bath for me. It was loaded with Epsom salts and another bath salt mix to help relaxation. I got in the tub, with a lot of help, and the hot water and salts helped a lot. BUT the biggest help of all was my daughter Kate. After she and her dad helped me into the tub, she got a 'Choose Your Own Adventure Book' and as per the routine she red it to me while I soaked and relaxed as best as I could. This is what she does every time this kind of thing happens. Incase you're wondering...she IS amazing. Not just when I'm in pain, but all of the time. She hates it when I brag about her, so I guess its good that she doesn't read this blog. She has been cooking since she was 4, she is taking vocational culinary classes and is going to culinary school after high school. She has a 4.0 and cleans with out being asked. She is funny and has a healthy perspective on life. I know, I'm her mother and you may be thinking I'm jaded. Maybe I am.

Today has been OK so far. I still hurt, but Frank will be home to help me with lunch and Kate will be home by 4, so I have plenty to look forward to.

More mito awareness

It's mito awareness week as most of my friends and family know, but a few still seem wrapped up in their own lives. I'm not really surprised, it happens during CF awareness too. I do not for one second think I am the center of the universe, but it would be nice if some of my loved ones at least acted like they were interested in a cure. For either illness. It isn't as if we only get to pick one charity/disease to champion so I am not sure why it is like pulling teeth to get them to come out to an event or to share a post to raise awareness.

Back to raising awareness...

Mitochondria are in almost every cell in the body, and produce 90% of energy needed by the body to function. When there is a dysfunction in the mitochondria the body is not able to convert food and oxygen to energy. The heart, brain, muscles and lungs, are the most affected by mitochondrial disease because the require the most energy. Someone affected may have strokes, seizures, gastro-intestinal problems, (reflux, severe vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease.


Some of my symptoms overlap with my cystic fibrosis, so I guess in a sense I got a double whammy. Please go to UMDF.org for more information on mitochondrial disease and how you can help. Another good site to check out is mitoaction.org

Mitochondrial Disease Awareness week

Yesterday was the start of mitochondrial disease awareness week! So I'm going to post every day with some information on what exactly this disease is and what it does to me personally. I am not doing this for sympathy or anything but rather so that people can read and see how mito effects me personally. So to start off, what is mitochondrial disease? According to the United Mitochondrial Disease Foundation (UMDF.org) it is:

"A 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. 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. 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."

So technically:
"Mitochondrial diseases are the result of either inherited or spontaneous mutations in mtDNA or nDNA which lead to altered functions of the proteins or RNA molecules that normally reside in mitochondria. Problems with mitochondrial function, however, may only affect certain tissues as a result of factors occurring during development and growth that we do not yet understand. Even when tissue-specific isoforms of mitochondrial proteins are considered, it is difficult to explain the variable patterns of affected organ systems in the mitochondrial disease syndromes seen clinically."

Mito Action adds:
•Mitochondrial disease is a chronic, genetic disorder that occurs when the mitochondria of the cell fails to produce enough energy for cell or organ function.
•The incidence about 1:3000-4000 individuals in the US. This is similar to the incidence of cystic fibrosis of caucasian births in the U.S.
•There are many forms of mitochondrial disease.
•Mitochondrial disease is inherited in a number of different ways
•Mitochondrial disease presents very differently from individual to individual.
•There may be one individual in a family or many individuals affected over a number of generations.


There are many of them, which means there are many different symptoms. But the most common are:
•Poor Growth
•Loss of muscle coordination, muscle weakness
•Neurological problems, seizures
•Autism, autistic spectrum, autistic-like features
•Visual and/or hearing problems
•Developmental delays, learning disabilities
•Heart, liver or kidney disease
•Gastrointestinal disorders, severe constipation
•Diabetes
•Increased risk of infection
•Thyroid and/or adrenal dysfunction
•Autonomic dysfunction
•Neuropsychological changes characterized by confusion, disorientation and memory loss.

My current symptoms:
•Loss of muscle coordination, muscle weakness, muscle cramps, muscle spasms
*Nerve Pain
*Joint Pain (Fingers, toes, knees hips)
*Poor absorption (result, several vitamin deficiencies) added complications due to CF
*Poor Digestion (added complications due to CF)
*Thyroid dysfunction
•Neuropsychological changes characterized by confusion, disorientation and memory loss.
*Liver (unsure if this is CF related or mito related or a combo)
•Fatigue - everyday
*bone pain

On a scale of 1 - 10 today my fatigue is an 8, muscle pain is 3, joint is 6, and nerve is 5. This numbers are my usual range. When I have a good day I still have my symptoms, they might all be below a 5 or I am hiding it. Which I do all too well, according to my husband.

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!!