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.)

Disability update...

Well, I had my disability hearing on the 31st. My lawyer says it went well and he is pretty positive about it, but I am still nervous. The say I will receive the judgment in 6 to 8 weeks…I’m not getting my hopes up that this is finally over.

I’ve been pretty exhausted for the past two weeks or so, and the pain in my leg and arm has gotten better. The hip pain has gotten worse though. I can lie down in bed for about 8 hours, and then I have to get up because the pain is pretty bad, and my hips are stiff too. It’s not something that I’ve had a problem with before so I am unsure of how to handle it. And since I don’t have health insurance, it’s not something I can get help with. At least not right now. I’ll need to save up for an appointment, but I am going to email NIH to see if they can help. I’m still not in a study for my mitochondrial disease, but it looks like I might get into the undiagnosed clinic (because my symptoms don’t fit into any know mitochondrial disease).

Kate is working on her senior project this week, and she is really enjoying it. It is so nice seeing her do something she loves to do. I know a lot of parents say their child deserves something special, but Kate really does. She was abducted by her birth mother when she was 2, then she had to put up with the birth mothers constant dropping in and out, not to mention my health and that she helps out around the house often. I love her so very much.

Disability

For the past week I’ve been feeling pretty tired and yesterday I started experiencing bone pain. (I call it that b/c it feels like the pain when I broke my ankle/wrist/knee. Not the break part but the pain you feel after the bone sets and it starts to heal.) My left arm and my right leg, not to mention my hips feel out of socket. I couldn’t even put my own pants on. I’m not feeling sorry for myself but frustrated with my body. I’m going to try some Bayer Back and Body, but I’m not sure if it will help.

Last post I was excited to go on vacation. We went to Duck, NC with friends. We had a pretty good time although I felt like I missed a lot. My biggest missed moment was watching the sunrise from the beach. I just couldn’t wake up to do it. But I did spend some time on the deck, granted it was in the afternoons and evenings but it was nice. I did get a lot of pictures to help me remember as many moments as I can!


This morning has been ok despite the pain, Frank helped me down the steps (and getting dressed) and Kate made me some breakfast. She’s working on her senior project next week, so she won’t be home to help in the mornings. I have my disability hearing tomorrow, so it will be a busy day. I’m hoping that it goes well, and that I can get threw it without crying. But I guess we’ll see.

Duck!

I had NIH this past Wednesday, and tomorrow the fam and I are headed on vacation. I am so excited! NIH went well, I got lectured about doing my treatments and I have a sinus infection (again). But my Lung Function is 82%!

The lecture came about because after speaking with my doctor she had said that if I missed a treatment or two not to worry, because my lungs were sounding clear. Well, I twisted that to mean that I did not have to use them if I was feeling ok. Stupid, I know. I’m trying to get back on track with them. She had me double up on my antibiotics for the next 2 weeks, because of the sinus infection. I had a fever when I went in and I have been having some nasty plugs from my sinuses.
As far as my mitochondrial disease is concerned my CF doc is still trying to get someone to take notice and treat me. Hell, I’d be glad if they’d just studied me. Just so someone else could watch what’s happening and hopefully figure out why and how it’s happening. I understand there is no cure and that it is progressive…but there has to be some kind of treatment. Even if it’s just to help me sleep. I have such a hard time getting comfortable enough to fall asleep.

On to the best news…

Tomorrow we are going on vacation for a week! We are going to Duck, NC and I am so excited. We are going with our friends Chris and Damon and their kids (Alexander and Devin). The beach house is close to the beach, so I won’t have to walk far to get there. Frank was saying he might even drive me as close as he can so that I can save spoons (energy). I just can’t wait to be able to watch the sun rise, and feel the energy. I know it might sound weird but I feel as if the beach is sacred. It is a place where the energy of the land meets the energy of the ocean and I just feel closer to Nature. And for those who don’t know my beliefs…I feel that God and Nature are synonymous. (I also say I feel, rather than I believe because the truth is, I do feel it.)

I am taking a camera to catch as many memories as I can! There is internet access there and despite my want to be active, I’ll probably get online and maybe even post some pictures of my Facebook page. I’d love to go out every day, but I know I won’t! The house has a deck so I’ll probably spend a lot of time sitting out on it, breathing in the salty air and just being closer to my family and God. Nothing could be better.

Wednesday? Already?

This morning I woke up congested, and spent my first two hours awake coughing, hacking and spitting. (Pretty visual- I know) Because of my mitochondrial disease this coughing will be my major activity for the day, because today I woke up with very little energy. Sunday I took Kate out shopping to pick up things she needed for Prom, and on Monday Kate and I went grocery shopping. (Because Frank was sick.) So yesterday I was pretty much useless and today I’m still feeling pretty sore. We have friends coming over this weekend and I’d like to not be in pain the whole time so I’m taking it easy for the next few days. Kate still needs some things for Prom but I think Frank is going to take her out to get them. As long as I’m not driving I should be able to go with them, but I’ll have to skip going into the store unless we take the wheel chair. (Which I hate, because people stare. Seriously. You would think that in this day and age a chick in a wheel chair wouldn’t be such a unique sight, but apparently it is. And those who don’t stare get in the way and then are annoyed when they have to move for the chair.)



After coughing everything up (thank you vest) I’m actually feeling like today is a pretty good day lung wise for me. My lung capacity is pretty good for an adult with CF (77%) but the problem is keeping it there. Because of my mitochondrial disease I have exercise intolerance, some days I might be able to do a few exercises while others there is no way I could. So for right now, I’m doing exercises to keep my muscles from getting any weaker. Exercise is important to CF patients, so the fact that I can’t do it is a real problem. Speaking of, I have to call my clinic and set up my next appointment. I’ve been forgetting, which is also mito related. My memory is terrible.



Here lately my sinuses have not been happy with the weather, so I’ve been taking extra meds to keep them in check. I’m still taking my standard antibiotics and *knocks on wood* everything seems to be going well. Tonight I’m making dinner. I picked something pretty easy with no prep work needed, a pasta casserole type thing. Its rigatoni and pepperoni with ricotta and tomato basil sauce, and I’ll have to have help getting it in and out of the oven.

I can't believe it is Wednesday already.  I feel like it should be Tuesday or maybe even Monday, so that I can get things done. 

My colors are blush and bashful...

I was admitted to the hospital in the beginning of February and I was in for about 14 days. I was on IV antibiotic and met with quite a few doctors. I saw a neurologist, a neurogeneticist, 3 rheumatologists, nutritionist, opthamologist, geneticist, physio and occupational therapy (and of course my CF doc). I had a chest X- ray, MRI, swallow study, an ECHO, abdominal ultrasound, EMG/NCV, an eye full exam, and a q sweat. (Not to mention a ton of blood work.) So some of the tests came back 'off'. They are trying to fit me into a study to help with the pain, but I'm trying not to get my hopes up. Having a unique mitochondrial mutation leaves the doctors unsure of how to treat me; which means I'm just stuck in limbo waiting for someone to figure me out. So I suppose we will see what happens. On a positive note I went in with a 67% lung function and came out with 77%...

I woke up Monday with a stuffy nose, sore throat and chest congestion. I was hoping it was allergies, but that was just wishful thinking! I am still sick and I feel worse than I felt on Monday. So I put in a call to my doctor to let her know 17 days out of the hospital...and I'm sick. AGAIN. The last time this happened was in October and it lasted until this hospital visit. I'm frustrated, but not as frustrated as my husband. Sometimes I consider lying and telling him I feel fine...but then I realize that I need his support. I just wish he had more support. Sometimes I'm not sure his family understands his stress level (b/c of me), hell I'm not even sure he tells his friends. But Frank is a worrier, and to quote a line from Steel Magnolia's- "I never worry 'cause I always know you're worried enough for the both of us". That's Frank...worried enough for the both of us.

Anyhow...my family is going through some turmoil right now, nothing that I feel comfortable posting details about online. A few of my friends are sick right now too. I wish I could do something. For my family and friends; but physically...I just can't. At least not right now, hopefully if I get a new diagnosis from NIH that I'll get my energy and muscle control back, not to mention get rid of this constant ache.

We bought a ton of Girl Scout cookies so far, in an effort to show support. I'm sure I will have an extra butt cheek to show support at the end of this cookie sale! As for my daughter? She's made Honor Roll with Distinction; I am so proud of her. She is doing well, still cooking and loving it! If there is one thing in this world that I did right, it was raising Kate. It is the most important job in my life, and the thing I'm most proud of (being a Mom).