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
About Me
- Chrissy
- I am a wife and mother who also has cystic fibrosis and a mitochondrial disease.
Showing posts with label mitochondrial mutation. Show all posts
Showing posts with label mitochondrial mutation. Show all posts
Friday, January 10, 2014
Sunday, March 17, 2013
French Fries fix everything...until you eat too many
So a lot has been happening in the world. Family has been sick and friends are hurting, it has been a tough year so far. Through it all, a problem has been niggling in the back of my mind. I am getting worse. I have been trying to rate my pain and fatigue every day. The fatigue has stayed the same. But the pain hasn't, the past few weeks I have not been lower than a 5. I have been taking lyrica every day, and a vicodin at least once a day (usually to help me sleep).
I love my primary care doctor, I think she is wonderful.She absolutely thinks outside of the box, which is what a zebra like me needs. Some of you know the reference but for those who don't; zebra is a slang for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so "zebra" is the broader concept. It came from the saying, "When you hear hoof beats behind you, don't expect to see a zebra". http://en.wikipedia.org/wiki/Zebra_(medical)
So as I said, I need someone to think outside of the box. But I also need a specialist. So I contacted one of the doctors that discovered my mutation and wrote an article on me (http://www.ncbi.nlm.nih.gov/pubmed/12400067). I'm excited that she says she is going to see me! I can't wait! Don't get me wrong, there is no cure and I know that. Not yet anyway. But there could be a better way to treat this pain and discomfort.
In other news, our new dog is doing well. My daughter has a job in a kitchen, and loves it. My husband is doing well too, except he fell down our steps the other day. He only fell down the last 4 but he landed flat on his back. He has been sore for the past few days but he seems to be doing better. I also got to hang out with my BFF, Jessica. I have been resting and not really doing anything, but when I had the chance I hung out with her! She lives far away, I could drive to her house more often....if I could drive more often. Anyhow we went out and got french fries which are a cure all. That is until you eat to many, then they are the problem! Jessica and I lost touch for years, and a few "best friends" filled in. But they paled in comparison to Jess. I'm not saying she doesn't have flaws, but her flaws compliment my own.
All in all, I really do have a blessed life. What is illness when you have the kind of family and friends I have?
I love my primary care doctor, I think she is wonderful.She absolutely thinks outside of the box, which is what a zebra like me needs. Some of you know the reference but for those who don't; zebra is a slang for a surprising diagnosis. Although rare diseases are, in general, surprising when they are encountered, other diseases can be surprising in a particular person and time, and so "zebra" is the broader concept. It came from the saying, "When you hear hoof beats behind you, don't expect to see a zebra". http://en.wikipedia.org/wiki/Zebra_(medical)
So as I said, I need someone to think outside of the box. But I also need a specialist. So I contacted one of the doctors that discovered my mutation and wrote an article on me (http://www.ncbi.nlm.nih.gov/pubmed/12400067). I'm excited that she says she is going to see me! I can't wait! Don't get me wrong, there is no cure and I know that. Not yet anyway. But there could be a better way to treat this pain and discomfort.
In other news, our new dog is doing well. My daughter has a job in a kitchen, and loves it. My husband is doing well too, except he fell down our steps the other day. He only fell down the last 4 but he landed flat on his back. He has been sore for the past few days but he seems to be doing better. I also got to hang out with my BFF, Jessica. I have been resting and not really doing anything, but when I had the chance I hung out with her! She lives far away, I could drive to her house more often....if I could drive more often. Anyhow we went out and got french fries which are a cure all. That is until you eat to many, then they are the problem! Jessica and I lost touch for years, and a few "best friends" filled in. But they paled in comparison to Jess. I'm not saying she doesn't have flaws, but her flaws compliment my own.
All in all, I really do have a blessed life. What is illness when you have the kind of family and friends I have?
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.”
Saturday, July 16, 2011
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!
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!
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.
Saturday, July 25, 2009
My Brother...
His name is Peter James, and he is four years younger than me. He does not have CF, he is just a carrier of the D F 508 gene. He has a few health issues of his own, but all in all he is healthy.
He is sweet and kind, he has a good heart and sense of humor. Pete is a caring guy. He works hard, and when he isn't working he is doing things for our mom and dad.
Pete worries about me a lot; although he won't tell me he does. I know it, I can see it when he looks at me and I can hear it when he talks to me. I can usually tell with most people; a talent I picked up a few years after my diagnosis. He lies about things to protect me, nothing big...all small little white lies or not telling me everything...but I can tell when he does it. Again it's a talent after years of dealing with doctors concerning my unknown mitochondrial mutation an CF. However with him I think I know because, we are connected.
I don't know if he read's my blog...but that's ok. I'm not really writing this for him, or for me. I'm writing this to tell those who read how lucky I am to have him for a brother. Sure he electrocuted me...twice; and yes he flushed my My Little Ponies hair brushes and ribbons down the toilet; no doubt he hit me over the head with a Tonka truck; and he totally hit me in the head with a wrench and a mop too. I can imagine the list of things I did in retaliation or to start the fights were just as rough! HAHA!
He is a great brother, and I could not ask for a better one. No matter what mistakes he has made or will make he will always be my little brother.
I figured that I'd blog about him today because I'm sick of blogging about me! I don't have any news anyway!!
He is sweet and kind, he has a good heart and sense of humor. Pete is a caring guy. He works hard, and when he isn't working he is doing things for our mom and dad.
Pete worries about me a lot; although he won't tell me he does. I know it, I can see it when he looks at me and I can hear it when he talks to me. I can usually tell with most people; a talent I picked up a few years after my diagnosis. He lies about things to protect me, nothing big...all small little white lies or not telling me everything...but I can tell when he does it. Again it's a talent after years of dealing with doctors concerning my unknown mitochondrial mutation an CF. However with him I think I know because, we are connected.
I don't know if he read's my blog...but that's ok. I'm not really writing this for him, or for me. I'm writing this to tell those who read how lucky I am to have him for a brother. Sure he electrocuted me...twice; and yes he flushed my My Little Ponies hair brushes and ribbons down the toilet; no doubt he hit me over the head with a Tonka truck; and he totally hit me in the head with a wrench and a mop too. I can imagine the list of things I did in retaliation or to start the fights were just as rough! HAHA!
He is a great brother, and I could not ask for a better one. No matter what mistakes he has made or will make he will always be my little brother.
I figured that I'd blog about him today because I'm sick of blogging about me! I don't have any news anyway!!
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