I have decided to be more diligent with my blogging, or at least I am going to try to be. I should post more often to raise awareness on issues near and dear to my heart.
This week is mitochondrial disease awareness week and I have been flooding my page with tid bits about having a mitochondrial disease. I have two genetic diseases both are progressive and neither have a cure. Both are/have been considered childhood diseases. (Cystic Fibrosis and Mitochondrial Disease) Obviously since I am 37 they are not. I was sick a lot as a kid, and was labeled fat and lazy. So when I turned 21 and they diagnosed me I was so happy to know why I was fat and lazy (and sick).
The problem?
I can’t change the fat or lazy part. Because of my Mito I don’t absorb vitamins and minerals correctly, and my CF totally compounds this issue. I take enzymes when I eat, avoid milk products (except for cheese, I LOVE cheese), take vitamin supplements, I get vitamins and minerals twice a week. I am still low. The past few months I have really been struggling with carotene, vitamin A and D. They are just consistently low all of the time it seems. At IVs I get blood work every week to monitor my levels. My cholesterol is really low too, but that is nothing new either. You would think that I would be losing weight through all this, but I’m not. I have been around the same weight for years, it seems. The mito causes me to have muscle cramping, nerve and joint pain; so exercising is not an option for me. I’d like to try to get to the pool more often but the Y costs money and I just don’t have that right now. Plus I eat whatever I crave, my doctors told me to; the thought process is that if I crave it my body needs it. My CF doc is happy with my weight and my mito doc hasn’t said anything about it, so I assume it’s a non issue for them. It is something I think about often though. Some days I am so bloated none of my clothing looks right and some days everything is a size too big, and my pants just fall right off. I exercise when I can but honestly, that is not often and not on a regular basis. I try to not focus on it, but it is hard. I used to go on all sorts of crash diets as a teen t try to fit in, but when y daughter was born everything changed. No more crash diets. I eat healthy, but sometimes I over eat the healthy stuff and without exercise I can’t lose. But I have learned to be happy in my own skin, plus being “chubby” seems to work for my health right now.
Both my illnesses have shaped my personality and me physically. They have both left a permanent mark, like a tattoo, on my soul. It will never go away, and I am ok with that.
For more info on Mitochondrial Disease go to UMDF.og
For more info on Cystic Fibrosis got to CFF.org
About Me
- Chrissy
- I am a wife and mother who also has cystic fibrosis and a mitochondrial disease.
Showing posts with label mitochondrial disease. Show all posts
Showing posts with label mitochondrial disease. Show all posts
Friday, September 19, 2014
Tuesday, September 16, 2014
Awareness
This week is Mitochondrial Disease awareness week (September 14 – 20) and I am always thinking of ways to spread awareness about both of my diseases, Cystic Fibrosis and Mito. Ironically my Mito is the only hurdle in doing so. I can no long participate in Great Strides (CF walk), I can still sponsor someone but I used to participate in 1 walk for years and for those last 3 years I did 2. Cystic Fibrosis previously was thought to be a childhood disease, Mito still is talked about as a childhood disease but they are learning more and more about adult onset.
I try to post on social media to spread awareness, and I have this blog but I can’t help but feel like I am not doing enough. Then again that is a common theme in my adult life. I never feel like I am doing enough. I should be doing more to raise awareness. I should be doing more around the house. I should be doing more to help my family. I should be doing more to see my family. The list goes on and on, but I’m no whiner so I’ll stop there.
To learn more about Mitochondrial Disease go to umdf.org
Getting them to narrow my specific Mito down is like pulling teeth, every visit I’d ask and every visit I would get the same answer. “You have two mutations never seen before. We cannot classify them easily and we have no other to compare it to. We don’t really know what other symptoms will develop, but we do know the ones you have will progress.” It is a nightmare, and to get any answer I have to break down in front of the right person. I broke down at many of my Mito appointments, and they felt bad; I think, but no one would budge. No false hope and all that jazz, they wanted to be sure. In an article written about me they say “a woman who has been suspected of mitochondrial Cytopathy”, while at another appointment another doc said they thought it was a Myopathy. (Am J Med Genet. 2002 Nov 15;113(1):59-64)
I’m still waiting.
To learn more about Cystic Fibrosis go to cff.org
I was diagnosed at 21 which is when he figured out that I had Mito too. I have lived with the knowledge of both, but because they weren’t sure about the Mitochondrial Disease I focused on my CF. Tried to learn as much about it as I can, I’m no expert but I do know what it is and what it does, and more importantly what it will do. I ignored my Mito until my symptoms had progressed and I was unable to sit at work or walk across a parking lot. I fought hard or disability and was denied twice. Finally I had to go in, that day I was not moving well at all. I had my wheel chair for the long walk into the court house, but I walked into the court room. It was slow and agonizing but I wanted these people to see me. Not just the label of Mito, but me and what it was doing to my body. Finally this judge saw *ME*.
Now I live in a two story home with my husband and daughter. They do the housework and cooking. I pitch in when I can, which is not often. Most days I sit by my window and watch the birds outside, my dogs keep me company as I spend my time on the internet, reading, watching TV, or playing a video game. When the pain is bad I do more than one, in an attempt to keep myself occupied with other things. My therapist called this a distraction method and said it was common with chronic pain sufferers.
Please educate yourself on Mitochondrial Disease and Cystic Fibrosis, both diseases need a cure. Not because I have them, but because I know, first hand, what they are capable of doing to people.
I try to post on social media to spread awareness, and I have this blog but I can’t help but feel like I am not doing enough. Then again that is a common theme in my adult life. I never feel like I am doing enough. I should be doing more to raise awareness. I should be doing more around the house. I should be doing more to help my family. I should be doing more to see my family. The list goes on and on, but I’m no whiner so I’ll stop there.
To learn more about Mitochondrial Disease go to umdf.org
Getting them to narrow my specific Mito down is like pulling teeth, every visit I’d ask and every visit I would get the same answer. “You have two mutations never seen before. We cannot classify them easily and we have no other to compare it to. We don’t really know what other symptoms will develop, but we do know the ones you have will progress.” It is a nightmare, and to get any answer I have to break down in front of the right person. I broke down at many of my Mito appointments, and they felt bad; I think, but no one would budge. No false hope and all that jazz, they wanted to be sure. In an article written about me they say “a woman who has been suspected of mitochondrial Cytopathy”, while at another appointment another doc said they thought it was a Myopathy. (Am J Med Genet. 2002 Nov 15;113(1):59-64)
I’m still waiting.
To learn more about Cystic Fibrosis go to cff.org
I was diagnosed at 21 which is when he figured out that I had Mito too. I have lived with the knowledge of both, but because they weren’t sure about the Mitochondrial Disease I focused on my CF. Tried to learn as much about it as I can, I’m no expert but I do know what it is and what it does, and more importantly what it will do. I ignored my Mito until my symptoms had progressed and I was unable to sit at work or walk across a parking lot. I fought hard or disability and was denied twice. Finally I had to go in, that day I was not moving well at all. I had my wheel chair for the long walk into the court house, but I walked into the court room. It was slow and agonizing but I wanted these people to see me. Not just the label of Mito, but me and what it was doing to my body. Finally this judge saw *ME*.
Now I live in a two story home with my husband and daughter. They do the housework and cooking. I pitch in when I can, which is not often. Most days I sit by my window and watch the birds outside, my dogs keep me company as I spend my time on the internet, reading, watching TV, or playing a video game. When the pain is bad I do more than one, in an attempt to keep myself occupied with other things. My therapist called this a distraction method and said it was common with chronic pain sufferers.
Please educate yourself on Mitochondrial Disease and Cystic Fibrosis, both diseases need a cure. Not because I have them, but because I know, first hand, what they are capable of doing to people.
Friday, July 18, 2014
Rough day
I finally made my next CF clinic visit, and yes I know it is long over do. I was supposed to go in February but I never made the appointment. Life got crazy. Last visit I was at 74% so I am curious to see where I’m at right now.
Today was a rough day. Despite my medicines my pain just got the best of me today, and honestly this is the second day this week where I was absolutely exhausted. I have my ups and downs throughout every day. Some days my pain gets to a 10 some days it is as low as a 3. My fatigue works the same way. Today was easily a 9 for pain; fatigue was a tad better – 7ish. Doesn’t really help my mood at all. I have been snapping at people left and right. I’m on edge, and when I’m not I’m depressed.
It is so frustrating to only be comfortable for a short time and then feel like bugs are crawling on my legs or even wore the burning. My husband and daughter see me struggle with this often, and I am ashamed that I cannot hide it very well anymore. But that’s just my own insecurities. I’ll dig myself out of this funk…
Today was a rough day. Despite my medicines my pain just got the best of me today, and honestly this is the second day this week where I was absolutely exhausted. I have my ups and downs throughout every day. Some days my pain gets to a 10 some days it is as low as a 3. My fatigue works the same way. Today was easily a 9 for pain; fatigue was a tad better – 7ish. Doesn’t really help my mood at all. I have been snapping at people left and right. I’m on edge, and when I’m not I’m depressed.
It is so frustrating to only be comfortable for a short time and then feel like bugs are crawling on my legs or even wore the burning. My husband and daughter see me struggle with this often, and I am ashamed that I cannot hide it very well anymore. But that’s just my own insecurities. I’ll dig myself out of this funk…
Tuesday, February 25, 2014
Rare Disease Day
February 28, 2014 is Rare Disease Day! One in ten Americans live with a rare disease, and it's time we raise awareness for ALL of the rare diseases out there. Do you know about a rare disease? Spread the word make a post on your blog, Facebook, tweet about it - be annoying and LOUD! Make it so people have no choice but to listen to you!!!
Cystic Fibrosis is a rare disease, listed on NORD (National Organization for Rare Diseases).
https://www.rarediseases.org/
They have a list available on the website. According to NORD's page on CF,
"Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs)or externally (e.g., sweat glands). In cystic fibrosis, these secretions become
abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection. The symptoms of cystic fibrosis can vary greatly in number and severity from one individual to another. Common symptoms include breathing (respiratory) abnormalities including a persistent cough, shortness of breath and lung infections; obstruction of the pancreas, which prevents digestive enzymes from reaching the intestines to help break down food and may result
in poor growth and poor nutrition; and obstruction of the intestines. Cystic fibrosis is slowly progressive and often causes chronic lung damage, which eventually results in life-threatening complications. Because of improved treatments and new treatment options, the outlook and overall quality of life of individuals with cystic fibrosis has improved and nearly 50 percent of individuals with the disorder are adults. Cystic fibrosis is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is inherited as an autosomal recessive trait."
I challenge EVERYONE reading this blog to go to their site, and look at their list find something out about rare diseases.
What makes a disease rare?
A disease which affects less than 200,000 people is what constitutes a rare disease in America. The National Institutes of Health says that there are 6,800 of these diseases, which means together they affect approximately 30 million people.
There are pages on Facebook that you can "like" that have info that you can easily share about Rare Disease Day. I'll share a few links below:
What is a rare disease video
https://www.youtube.com/watch?v=MBwCcVGFODs&feature=c4-overview-vl&list=PLMmYBWQscoiFDuDK_G_3dyOsOh_Mu-V8X
What is it like to have a rare disease video
https://www.youtube.com/watch?v=_aMyqn88SEk&list=PLMmYBWQscoiFDuDK_G_3dyOsOh_Mu-V8X
Info
http://rarediseaseday.us/take-action-now/press-kit/
Also on Facebook look up:
Rare Disease Day US - https://www.facebook.com/RareDiseaseDay.US
the Global Genes Project - https://www.facebook.com/globalgenesproject
NORD - https://www.facebook.com/NationalOrganizationforRareDisorders
Cystic Fibrosis is a rare disease, listed on NORD (National Organization for Rare Diseases).
https://www.rarediseases.org/
They have a list available on the website. According to NORD's page on CF,
"Cystic fibrosis is a genetic disorder that often affects multiple organ systems of the body. Cystic fibrosis is characterized by abnormalities affecting certain glands (exocrine) of the body especially those that produce mucus. Saliva and sweat glands may also be affected. Exocrine glands secrete substances through ducts, either internally (e.g., glands in the lungs)or externally (e.g., sweat glands). In cystic fibrosis, these secretions become
abnormally thick and can clog up vital areas of the body causing inflammation, obstruction and infection. The symptoms of cystic fibrosis can vary greatly in number and severity from one individual to another. Common symptoms include breathing (respiratory) abnormalities including a persistent cough, shortness of breath and lung infections; obstruction of the pancreas, which prevents digestive enzymes from reaching the intestines to help break down food and may result
in poor growth and poor nutrition; and obstruction of the intestines. Cystic fibrosis is slowly progressive and often causes chronic lung damage, which eventually results in life-threatening complications. Because of improved treatments and new treatment options, the outlook and overall quality of life of individuals with cystic fibrosis has improved and nearly 50 percent of individuals with the disorder are adults. Cystic fibrosis is caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene and is inherited as an autosomal recessive trait."
I challenge EVERYONE reading this blog to go to their site, and look at their list find something out about rare diseases.
What makes a disease rare?
A disease which affects less than 200,000 people is what constitutes a rare disease in America. The National Institutes of Health says that there are 6,800 of these diseases, which means together they affect approximately 30 million people.
There are pages on Facebook that you can "like" that have info that you can easily share about Rare Disease Day. I'll share a few links below:
What is a rare disease video
https://www.youtube.com/watch?v=MBwCcVGFODs&feature=c4-overview-vl&list=PLMmYBWQscoiFDuDK_G_3dyOsOh_Mu-V8X
What is it like to have a rare disease video
https://www.youtube.com/watch?v=_aMyqn88SEk&list=PLMmYBWQscoiFDuDK_G_3dyOsOh_Mu-V8X
Info
http://rarediseaseday.us/take-action-now/press-kit/
Also on Facebook look up:
Rare Disease Day US - https://www.facebook.com/RareDiseaseDay.US
the Global Genes Project - https://www.facebook.com/globalgenesproject
NORD - https://www.facebook.com/NationalOrganizationforRareDisorders
Friday, January 10, 2014
It does exist!
Yes, mitochondrial disease is real. How do I know and doctors at Boston’s Children’s Hospital don’t?
I’m glad you asked.
Every day I wake up and I lay in bed assessing my energy levels for the day. It doesn’t help every time I take it easy the night before. I’m like a cell phone battery. You know the ones that keep a charge for 5 hours one day and 2 the next. Anyhow, I assess my energy levels. I have to decide if I’m able to get out of bed and get dressed. Most days I come down stairs in my robe, and my husband brings me clothes and helps me put them on. Then when I get down stairs I have to decide to I eat breakfast and risk being in the bathroom all afternoon? If I eat I will be using energy to digest my food, and if everything goes well I may have energy to go out and do something. Yep. That’s right eating is hard. Digesting takes energy.
Next I take all my meds and do my neb treatments. I’m usually sitting at the computer for this and able to hop on line to facebook to do a quick check in on family and friends. Once I’m done, I get up and walk back to the couch. Do I sit and watch TV or do I take a nap?
If I don’t take a nap, and decide to help my husband with grocery shopping my night is planned for me. When we go I have to get a cart to push. If I sit in the wheel chair for the whole time my upper legs and thighs will hurt. But if I’m up and walking my lower legs and feet will hurt. Both ways cause my hips to scream at me…
But I WANT to go out. I WANT to be active. I WANT to breathe fresh air. Sometimes my body cooperates, but others not so much.
I think about these things, and I make choices everyday; that is how I know it is real.
I live it.
I hurt.
I’m tired.
I’m confused.
I’m uncoordinated.
People with mito are not “imaginary” we are VERY REAL and we NEED you to help us.
UMDF.org or Mitoaction.org
I’m glad you asked.
Every day I wake up and I lay in bed assessing my energy levels for the day. It doesn’t help every time I take it easy the night before. I’m like a cell phone battery. You know the ones that keep a charge for 5 hours one day and 2 the next. Anyhow, I assess my energy levels. I have to decide if I’m able to get out of bed and get dressed. Most days I come down stairs in my robe, and my husband brings me clothes and helps me put them on. Then when I get down stairs I have to decide to I eat breakfast and risk being in the bathroom all afternoon? If I eat I will be using energy to digest my food, and if everything goes well I may have energy to go out and do something. Yep. That’s right eating is hard. Digesting takes energy.
Next I take all my meds and do my neb treatments. I’m usually sitting at the computer for this and able to hop on line to facebook to do a quick check in on family and friends. Once I’m done, I get up and walk back to the couch. Do I sit and watch TV or do I take a nap?
If I don’t take a nap, and decide to help my husband with grocery shopping my night is planned for me. When we go I have to get a cart to push. If I sit in the wheel chair for the whole time my upper legs and thighs will hurt. But if I’m up and walking my lower legs and feet will hurt. Both ways cause my hips to scream at me…
But I WANT to go out. I WANT to be active. I WANT to breathe fresh air. Sometimes my body cooperates, but others not so much.
I think about these things, and I make choices everyday; that is how I know it is real.
I live it.
I hurt.
I’m tired.
I’m confused.
I’m uncoordinated.
People with mito are not “imaginary” we are VERY REAL and we NEED you to help us.
UMDF.org or Mitoaction.org
Thursday, December 5, 2013
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
Follow my blog with Bloglovin
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
Follow my blog with Bloglovin
Tuesday, October 29, 2013
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.
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.
Thursday, September 19, 2013
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
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
Monday, September 16, 2013
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.
"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.
Monday, July 15, 2013
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.
- 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.
Sunday, May 26, 2013
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.
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.
Wednesday, October 17, 2012
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.
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.
Wednesday, September 19, 2012
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.”
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.”
Wednesday, August 8, 2012
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.
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.
Wednesday, May 2, 2012
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.
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.
Thursday, October 27, 2011
Clinging to CF
So after a discussion with my husband a few nights ago and some serious soul searching...I have come to a realization.
I've been in denial about this whole mitochondrial disease issue. I've been so focused on CF, and raising money and awareness that I have not acknowledged the other serious disease in my life. I've talked about it, sure; but I've done little to fund raise or spread awareness. (At least compared to the stuff I've done for CF)
It occurred to me with VX-770, that a pill for me might be around the corner and I got excited. I've spent a lot of time this week going over stuff I'd like to do, going back to work is one of the things on that list. But then I realized...I'm not working because I get frequent infections, I don't have the energy and my muscles cramp and ache. According to the mito information; those things can all be caused by mitochondrial disease. I knew my muscles were a result of the mito but I kept telling myself everything else could be CF related.
To clarify; I didn't delude my self because CF is less serious in anyway shape or form. I did this because I can explain cystic fibrosis. Because when I tell people I have CF and they ask, "What's that?" I can actually answer. When I tell people I have a mitochondrial disease 95% have no idea what I'm talking about. And when they as, "What is that"; I explain as best as I can a disease that my doctors don't even fully understand. People look at me like I use this as an excuse to be lazy...so I only discuss it with people who already know me and understand mito. When I meet people I don't say "Hi I'm Chrissy and I have two genetic diseases". When health comes up I usually just say I have CF and another genetic disease that is not well known. If people pry by asking what it is, I tell them it is a muscle disease. It sounds better than saying, "It is a disease in which my body doesn't produce enough energy on a day to day basis. So the symptoms can vary from person to person."
I mean typing it, it reads as a straight forward answer...I just wish it was so straight forward that people would not judge me.
I've been in denial about this whole mitochondrial disease issue. I've been so focused on CF, and raising money and awareness that I have not acknowledged the other serious disease in my life. I've talked about it, sure; but I've done little to fund raise or spread awareness. (At least compared to the stuff I've done for CF)
It occurred to me with VX-770, that a pill for me might be around the corner and I got excited. I've spent a lot of time this week going over stuff I'd like to do, going back to work is one of the things on that list. But then I realized...I'm not working because I get frequent infections, I don't have the energy and my muscles cramp and ache. According to the mito information; those things can all be caused by mitochondrial disease. I knew my muscles were a result of the mito but I kept telling myself everything else could be CF related.
To clarify; I didn't delude my self because CF is less serious in anyway shape or form. I did this because I can explain cystic fibrosis. Because when I tell people I have CF and they ask, "What's that?" I can actually answer. When I tell people I have a mitochondrial disease 95% have no idea what I'm talking about. And when they as, "What is that"; I explain as best as I can a disease that my doctors don't even fully understand. People look at me like I use this as an excuse to be lazy...so I only discuss it with people who already know me and understand mito. When I meet people I don't say "Hi I'm Chrissy and I have two genetic diseases". When health comes up I usually just say I have CF and another genetic disease that is not well known. If people pry by asking what it is, I tell them it is a muscle disease. It sounds better than saying, "It is a disease in which my body doesn't produce enough energy on a day to day basis. So the symptoms can vary from person to person."
I mean typing it, it reads as a straight forward answer...I just wish it was so straight forward that people would not judge me.
Monday, October 17, 2011
Conserving energy
I haven't blogged in a while, mostly because I haven't had the energy. Yeah...that's right. I said "energy". It takes a lot for me to sit down and organize my thoughts here. I have found myself; lately, having to pick and choose my activities a lot more carefully. Here is a list of some of those things that I have to choose between most days:
Things that take energy
1. Getting out of bed
2. Getting a shower
3. Getting dressed
4. Coming down the stairs
5. Getting my medicine together and prepping treatments
6. Going into the kitchen to get something to eat
7. Eating breakfast
8. Cleaning up after breakfast
9. Going to the bathroom
10. Making phone calls
11.Logging in to school and participating
12.Walking back from the kitchen to the sofa.
I think you get the idea (a few of these I have to do more than once). Some days I wake up and can get 5 or 6 things done while others (less often) I can maybe even help out by starting a load of laundry or *gasp* I might have enough energy to spend some time with friends.
I do not consider myself a lazy person, but I'm not sure how many of my friends and family actually get how much energy it takes me to do the smallest task. Yesterday I had to take a shower with my husband, not for anything kinky mind you...but because I couldn't wash my hair. I'm not kidding either. Most people don't really know how bad it is because I honestly don't talk about it much.
I just feel bad about it. Embarrassed. Frustrated. Angry. I would rather not get the looks filled with pity, or they say "What about trying this or that?". My condition isn't something my doctors seem to know much about so, I don't like trying to explain something that even the "experts" have problems understanding.
These things are why when I have the energy I'll take my daughter shopping (even if I have to keep her out of school). This is why when friends or family call and ask for help or say they want to spend time with me--I'll move heaven and earth if I have the energy.
Things that take energy
1. Getting out of bed
2. Getting a shower
3. Getting dressed
4. Coming down the stairs
5. Getting my medicine together and prepping treatments
6. Going into the kitchen to get something to eat
7. Eating breakfast
8. Cleaning up after breakfast
9. Going to the bathroom
10. Making phone calls
11.Logging in to school and participating
12.Walking back from the kitchen to the sofa.
I think you get the idea (a few of these I have to do more than once). Some days I wake up and can get 5 or 6 things done while others (less often) I can maybe even help out by starting a load of laundry or *gasp* I might have enough energy to spend some time with friends.
I do not consider myself a lazy person, but I'm not sure how many of my friends and family actually get how much energy it takes me to do the smallest task. Yesterday I had to take a shower with my husband, not for anything kinky mind you...but because I couldn't wash my hair. I'm not kidding either. Most people don't really know how bad it is because I honestly don't talk about it much.
I just feel bad about it. Embarrassed. Frustrated. Angry. I would rather not get the looks filled with pity, or they say "What about trying this or that?". My condition isn't something my doctors seem to know much about so, I don't like trying to explain something that even the "experts" have problems understanding.
These things are why when I have the energy I'll take my daughter shopping (even if I have to keep her out of school). This is why when friends or family call and ask for help or say they want to spend time with me--I'll move heaven and earth if I have the energy.
Tuesday, July 5, 2011
The truth about batteries
Since my last blog I have been trying to be more honest, and while it is getting easier - I still find myself sugar coating things for people. Its not that they don't understand but sometimes - they don't understand the depth of it (does that make sense) Not that it something everyone understands, hell even the NIH in Bethesda doesn't understand my mitochondrial disease.
The mitochondria are the little batteries/power houses of the human cells. They can be found in every cell except the red blood cell. The number in each cell varies depending on how much energy demands. (Think of it like having a pack of M & M's. All the M & M's in the pack are energy, but because I have two mutations the brown and the orange are defective. Each cell depending on energy needs is like a pack of M & M's, so some times the bag/cell has 25% defective mitochondria while the next bag/cell could have 60%.)
Most energy production happens inside the mitochondria, so you can imagine that people with mutated mitochondria get fatigued easy. And how easy varies on a day to day basis. One day getting out of bed is a chore while the next I can go grocery shopping. Additionally one day my digestive system has enough energy to work correctly and the next day - it doesn't. This link explains it much better than I could:
So even though it sounds far fetched that I'm not feeling well two hours after you saw me doing fine; it happens. I'm not lying to get out of hanging out, create drama, to cause problems, or to get things my way. Seriously. I have enough drama from the cells in my body - I don't need or want more.
There are several different mitochondrial diseases, with mine the doctors won't give me any specific name. The reason? My two mutations are rare, so rare that one of them is completely unique to me. So they don't know what to expect and neither do I. I have had symptoms since I was little, but no one realized it. I was clumsy and had poor balance. At 16 I started having noticeable muscle spasms. At 21 NIH figured out that it was not 1 but 2 mitochondrial mutations causing all the problems (IN addition of course to my cystic fibrosis). Now at 34 I have muscle aches, cramps, pain, fatigue and spasms; I don't absorb nutrients the way I'm supposed to. While People with CF have problems absorbing fat and fat soluble vitamins; I got a double whammy and have problems absorbing lipids, fat soluble vitamins, water soluble vitamins, and minerals needed to help my body function. (This is why sometimes I get confused and/or forget things) And they don't know whats next. Honest. I don't want to be sick, and I'm not being dramatic, but the doctors really have no idea what symptoms could be next. They do know that it is progressive, having a genetic progressive disease stinks but I find myself more afraid of the progressive genetic disease that keeps me and the doctors guessing. When I was diagnosed with CF they told me that with the proper care there is no reason I couldn't live to be 40. When I was told about my mitochondrial disease I was told that I may be in a wheel chair by 40.
Why am I putting this in my blog? So that people can read it and understand, hopefully; that I don't want your manufactured drama, your rumors and lies, and I don't want your pity. I want to live life, help my friends and family with real problems. I want to love (as sappy as that sounds) and not get hung up on the little things, and I want that for everyone else too. And I'm also putting this in my blog to get it off my chest, as it has been bothering me for the past few days.
The mitochondria are the little batteries/power houses of the human cells. They can be found in every cell except the red blood cell. The number in each cell varies depending on how much energy demands. (Think of it like having a pack of M & M's. All the M & M's in the pack are energy, but because I have two mutations the brown and the orange are defective. Each cell depending on energy needs is like a pack of M & M's, so some times the bag/cell has 25% defective mitochondria while the next bag/cell could have 60%.)
Most energy production happens inside the mitochondria, so you can imagine that people with mutated mitochondria get fatigued easy. And how easy varies on a day to day basis. One day getting out of bed is a chore while the next I can go grocery shopping. Additionally one day my digestive system has enough energy to work correctly and the next day - it doesn't. This link explains it much better than I could:
So even though it sounds far fetched that I'm not feeling well two hours after you saw me doing fine; it happens. I'm not lying to get out of hanging out, create drama, to cause problems, or to get things my way. Seriously. I have enough drama from the cells in my body - I don't need or want more.
There are several different mitochondrial diseases, with mine the doctors won't give me any specific name. The reason? My two mutations are rare, so rare that one of them is completely unique to me. So they don't know what to expect and neither do I. I have had symptoms since I was little, but no one realized it. I was clumsy and had poor balance. At 16 I started having noticeable muscle spasms. At 21 NIH figured out that it was not 1 but 2 mitochondrial mutations causing all the problems (IN addition of course to my cystic fibrosis). Now at 34 I have muscle aches, cramps, pain, fatigue and spasms; I don't absorb nutrients the way I'm supposed to. While People with CF have problems absorbing fat and fat soluble vitamins; I got a double whammy and have problems absorbing lipids, fat soluble vitamins, water soluble vitamins, and minerals needed to help my body function. (This is why sometimes I get confused and/or forget things) And they don't know whats next. Honest. I don't want to be sick, and I'm not being dramatic, but the doctors really have no idea what symptoms could be next. They do know that it is progressive, having a genetic progressive disease stinks but I find myself more afraid of the progressive genetic disease that keeps me and the doctors guessing. When I was diagnosed with CF they told me that with the proper care there is no reason I couldn't live to be 40. When I was told about my mitochondrial disease I was told that I may be in a wheel chair by 40.
Why am I putting this in my blog? So that people can read it and understand, hopefully; that I don't want your manufactured drama, your rumors and lies, and I don't want your pity. I want to live life, help my friends and family with real problems. I want to love (as sappy as that sounds) and not get hung up on the little things, and I want that for everyone else too. And I'm also putting this in my blog to get it off my chest, as it has been bothering me for the past few days.
Monday, May 23, 2011
honestly sugar coating...
Today I got to go out painting with the gals and had a good time. I have been in sort of a funk these past few days, but today cheered me up!
May is cystic fibrosis awareness month, so I decided to post random CF information on my face book page in hopes to increase awareness. I even thought that if I was honest on how I feel everyday (for the month) that maybe my family and friends who did not quite understand might understand a little better. But that task was a difficult one. I don’t usually like to post things about my health (specifically relating to me that is) because I’m usually not feeling energetic , often times my sinus’s are really causing me problems and well, most of the week my muscles hurt. Whenever I’m honest, it feels almost like I’m complaining…
So my dilemma is should I be honest or sugar coated?
Being honest ensures that there will not ever be a doubt about my health or how I feel. There will be no chance of denial from my friends or family. No chance for them to make comments about my CF being different from regular CF and no chance at any them being able to say things like, “I didn’t know she was sick” or “I had no idea she had that problem.”
Sugar coating allows me to be able to appear “normal” or “healthy” at times when I’m not. Since I have an invisible disease people can’t always tell when I feel less than 100%. I would probably still not get the support in my endeavors to cure CF or mitochondrial disease that I would like and I doubt any of them would rank it as a top 5 priority in life because after all, Chrissy doesn’t suffer too bad.
So I am thinking maybe I can mix the two?
Be honest but not blunt, be optimistic but not delusional, and be upfront be not completely open. I am usually pretty open about my health when it comes to my husband or the cysters and fibros I have met on line but for some reason I’m not able to be that open with family and friends.
So for all of my friends and family (and other people who read this blog)…
If you don’t want to really know how I feel… don’t ask. I don’t like feeling like I’m complaining, I like to be positive. But some days I just can’t be. I can’t smile as often as I would like to, I can’t do the things I used too and I’m too tired to always put up a facade. We’ll use a code; ask me how the weather is…
For those of you who do want to know I will do my best to paint an accurate picture when you ask (although it will not be a vivid picture, lol, just accurate).
May is cystic fibrosis awareness month, so I decided to post random CF information on my face book page in hopes to increase awareness. I even thought that if I was honest on how I feel everyday (for the month) that maybe my family and friends who did not quite understand might understand a little better. But that task was a difficult one. I don’t usually like to post things about my health (specifically relating to me that is) because I’m usually not feeling energetic , often times my sinus’s are really causing me problems and well, most of the week my muscles hurt. Whenever I’m honest, it feels almost like I’m complaining…
So my dilemma is should I be honest or sugar coated?
Being honest ensures that there will not ever be a doubt about my health or how I feel. There will be no chance of denial from my friends or family. No chance for them to make comments about my CF being different from regular CF and no chance at any them being able to say things like, “I didn’t know she was sick” or “I had no idea she had that problem.”
Sugar coating allows me to be able to appear “normal” or “healthy” at times when I’m not. Since I have an invisible disease people can’t always tell when I feel less than 100%. I would probably still not get the support in my endeavors to cure CF or mitochondrial disease that I would like and I doubt any of them would rank it as a top 5 priority in life because after all, Chrissy doesn’t suffer too bad.
So I am thinking maybe I can mix the two?
Be honest but not blunt, be optimistic but not delusional, and be upfront be not completely open. I am usually pretty open about my health when it comes to my husband or the cysters and fibros I have met on line but for some reason I’m not able to be that open with family and friends.
So for all of my friends and family (and other people who read this blog)…
If you don’t want to really know how I feel… don’t ask. I don’t like feeling like I’m complaining, I like to be positive. But some days I just can’t be. I can’t smile as often as I would like to, I can’t do the things I used too and I’m too tired to always put up a facade. We’ll use a code; ask me how the weather is…
For those of you who do want to know I will do my best to paint an accurate picture when you ask (although it will not be a vivid picture, lol, just accurate).
Sunday, January 23, 2011
fear and death
So today, I was feeling a little down thinking about those who have passed because of CF.I did not know any of them personally but being in the same support circle; I felt as though I did-in a way.It always stings when someone passes because of CF, but so far this year 3 have passed. 3. I just think of that number and I am scared out of my mind. Sad beyond belief. And that is only 3 that I had heard about my self. I am doing well lung wise. No recent chest infections or anything. My sinuses seem to always be infected lately, but I'm used to it. My muscles are always achy here lately--but I'm used to that too. My digestive system is still wonky, but mainly because we are trying to pin point what medication and how much I need. My joints have been bothering me which is new, and alarming because I have no idea if it is my mitochondrial disease progressing or if it is just because it has been so cold lately.
Anyway--it is all just a lot. The deaths, I mean. I can deal with pain or discomfort but death breaks my heart. I believe in heaven; but my heart breaks for those who are left behind. The sorrow they'll endure...I wish no one had to deal with it.
It's part of life, I know. It's not supposed to be easy, I know that too. I suppose I just think it is unfair that these people have to watch a loved one struggle and suffer...and then have to pick up the pieces when they are gone. I don't think it is fair. I think it is because I am close to friends and family that this bothers me so. Because I know one day it will be their turn. Their turn to watch and then to have to pick up the pieces.
Anyway--it is all just a lot. The deaths, I mean. I can deal with pain or discomfort but death breaks my heart. I believe in heaven; but my heart breaks for those who are left behind. The sorrow they'll endure...I wish no one had to deal with it.
It's part of life, I know. It's not supposed to be easy, I know that too. I suppose I just think it is unfair that these people have to watch a loved one struggle and suffer...and then have to pick up the pieces when they are gone. I don't think it is fair. I think it is because I am close to friends and family that this bothers me so. Because I know one day it will be their turn. Their turn to watch and then to have to pick up the pieces.
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