Update fall of 2015

I haven't updated in a while, and I'm sorry about that. I have just been so tired and on the days when I have energy I am out living. My PCP doctor is back and my IVs are set up again, and I'm happy about that. My last appointment I had to wait for almost 2 hours to see her though, and I'm not happy about that. I have been discussing getting a new PCP but I really *LOVE* the one I have, and my case is complicated. So I'm really not sure what to do yet, its a lot to think about.
My IVs have been going pretty well so far. I've got a few more supplements to take, and my cholesterol has finally gone up. My vitamin levels are still not up to par, but we'll get there. I have hope.

I did go to NIH this past week for my CF clinic. My lung function dropped, I could tell without the test though. I could feel a difference every month. I'm waiting for the sputum culture results, they're going to send me some antibiotics to take. If my sputum shows no change then this drop is muscle related, and I have had increased muscle weakness here lately. I'm also going back at some point to get some tests run, to check my digestive system, my lungs, and nerves. Next week I am hopefully going to the dentist to get my teeth fixed, which will be nice to finally get it done.

As for the rest of life, it's going well. My daughter is still in college and doing very well, my husband is still amazing, and I am still extremely thankful for my life.

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.

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.

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.

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).

Another week come and gone...

So this week has been a busy one, but we all managed to get through it fine! Kate got sponsored for a cooking class this past week, and she got one for a class in August too. I’m so excited for her, although I think my legs might need a vacation afterwards! But seriously, Kate has this opportunity to work with an amazing chef; so I’ll do what I have to do to make sure it happens. I know moms brag about their kids but I really think I have a wonderful, talented, and awesome daughter.
Other than that I had NIH this week, and things went ok. Frank has started taking me and when he can’t my brother does. I can’t drive that far anymore. Anyhow he isn’t used to getting the run around or the, “we don’t know what to do with you speech”; so if you ask him how the appointment went it was disappointing. I guess I should feel that way too but somehow I just can’t find it in me anymore to get upset. I mean don’t get me wrong I do spend many a night crying over this whole mess that is my health, but that is out of frustration, I think. Maybe it’s disappointment too…???


So my CF doc tells me about an undiagnosed disease clinic that is at NIH, and she wants to try to get me in. I’m all for that, it seems like NIH discovered these “novel” mutations and then a few years later decided it was too much work to keep up with. At times I feel like a bug in a jar, but I must be an uninteresting bug because they don’t even seem to be watching me anymore. So while I do have hope that NIH might come through, I will not be surprised if they don’t.
I suppose I should get used to the idea that no one will ever really understand me medically speaking. It’s difficult for me to explain to people what I have because while it is a mitochondrial disease, they cannot tell me anything more specific. The only thing more frustrating; to me, than having an invisible disease is having to tell people that you have an unknown (invisible) disease.
So tonight I’m sitting online and relaxing typing this blog post and playing on face book. My sleep schedule has been thrown off. I didn’t take pain meds all week, as I was driving, so know that I’ve taken one it’s keeping me awake. Frank is up stairs drawing, but I think I’m going to sneak in and go to bed!

Dreaming big...

Last night I laid in bed trying to sleep, but instead I was inspired to blog. Unfortunately I was too tired to get up and walk down the stairs and I knew that even if I could manage that I would not be able to go back up them. So I just laid there lost in my own thoughts.

What started me thinking?

I would have to say that Frank and I went to bed, and after getting in bed I realized my legs were itchy. Not bug bite itchy, but dry skin itchy. So Frank went down stairs to get my lotion, because he knew I couldn't make it down and back up again. So as I'm sitting there putting lotion on; I am reminded as to why I have dry skin that makes me itch. Not because it's winter, not because I take really hot showers or because of my medications; it is because my vitamins and minerals are low. It seems like every time I turn around something is reminding me that they are low. Like the cravings for tuna fish and turnip greens, and I don't mean craving as in "oh yeah that sounds good lets have that for dinner", I mean craving as in "OMG. I have to eat that right now, and if I don't get it I'm not really hungry for anything else".
I dropped my Critical Thinking class, because I can't think. Seriously, I'm forgetful and I get confused. So I decided that it would be a good idea to take a break. I have a clinic appointment next week and I'm hoping that NIH can help. I don't have health insurance so I am not able to get my IV therapy, which I really miss right now. I'd give anything to go it and be hooked up to a bag of multivitamin, trace minerals and lipids. So I'm hoping that some how my CF clinic might be able to help. I'm hoping that I can convince them to admit me for a tune up (you know you feel bad if you *want* in), but because this is all mito related who knows what they'll do. But a gal can dream, right?

Just another day...

I haven't updated recently as we have just been supper busy here. I had an NIH appointment, which went well. My FEV was 82% (up from 79%)! I got all my meds refilled and had some bloodwork done. On the muscle front things seems to be getting achey again and weak; just like before. BUT I'm just taking it one day at a time!

A few weeks ago a friend of mine had a Cystic Fibrosis Fundraiser, I was a speaker. I took the time to go over a list of people with CF who had died recently and all of their ages. It's tough when you go over the list, I started crying while reading them. Only a handful were older than me. The sad fact is that the median life expectancy is 37.4 (as of 2008). I usually don't focus on that myself; but it is always in the back of my mind. When I fundraise or try to spread awareness I always add it in and make sure people know it. I want them to know what CF is, what it does and that there is NO CURE. I just want to scream it so that people will donate money to the Cystic Fibrosis Foundation. The foundation supports a lot of research in new medications to help us have a better quality of life and the chance for a cure.

I would be lying if I didn't add in that *I* want a cure. I want to see my daughter graduate and get married... I want the people with CF that I have met online to get better (although a cure would not repair damage already done), I don't want children to suffer...

I have a whole list of other things I want; but a cure, is something patients and families want too. It's what keeps our hope alive.