Since Invisible Illness Awareness Week was last week (September 12 - 18) and this week is Global Mitochondrial Disease Awareness Week (September 18-24), I thought I would write a post explaining how Mitochondrial Disease affects me personally. So here goes:
I'm a 30 year old, living with childhood-onset, mitochondrial myopathy - one of the 42 diseases covered by the Muscular Dystrophy Association. In fact, it's the same disease that MDA Goodwill Ambassador, Mattie Stepanek and his 3 siblings died of.
Inside of nearly every cell in your body are tiny organelles called "mitochondria." These organelles act as "cellular power plants" because they produce more then 90% of your body's cellular energy. When you eat, mitochondria convert the food into its energy form called adenosine triphosphate or ATP through a process called cellular respiration which occurs in the electron transport chain. The energy (or ATP) is necessary to sustain life as they provide cellular energy for organ function.
Research shows that if the mitochondria malfunction, it can lead to a number of diseases depending on which cells in the body are affected. Mitochondrial dysfunction plays a role in several neurodegenerative diseases including Alzheimers, Parkinsons, Huntingtons, and Lou Gehrigs disease (ALS - Amyotrophic lateral sclerosis), and studies have shown mitochondrial dysfunction to also be a piece to the puzzle for other conditions including diabetes, some types of cancer, heart disease, blindness, deafness, kidney & liver disease, stroke, and autism. Mitochondria also play a role in the aging process!
In addition, as many as 2 million American's suffer from mitochondrial diseases - a group of diseases resulting from gene mutations in the mitochondrial and/or nuclear DNA. When these mutations occur, they can also lead to malfunction along the electron transport chain resulting in cell injury due to insufficient energy from their cellular powerplant (the mitochondria). Cell injury can lead to cell death, and when multiple cells die in one organ, that organ won't have sufficient energy for functioning. As this happens in multiple organs as the disease progresses, the individual can portray a wide variety of symptoms.
• It is estimated that of the 4 million children born each year in the United States, up to 4000 develop mitochondrial diseases.
• At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.
• There are over 40 identified types of Mitochondrial Diseases and believed to be over 100 variants of mitochondrial diseases, .
• In the United States, more than 50 million adults suffer from diseases in which mitochondrial dysfunction is involved. Mitochondrial dysfunction is found in diseases as diverse as cancer, infertility, diabetes, heart diseases, blindness deafness, kidney disease, liver disease, stroke, migraine, and the toxicity of HIV and other drugs. Mitochondrial dysfunction is also involved in aging and neurodegenerative diseases such as Parkinson and Alzheimer dementia.
• The World Health Organization (WHO) calculates that neurodegenerative diseases, also associated with mitochondrial dysfunction, will become the world's second leading cause of death by the year 2040.
For me, mitochondrial disease has effected my heart, neurological system, muscles & lungs the most. These organs require the most energy to function, so with insufficent energy it has caused symptoms such as seizures, stroke-like episodes, dysfunction of the autonomic nervous system (which regulates things such as heart rate, blood pressure, body temperature), and muscle breakdown (myopathy) resulting in me needing to use a wheelchair for mobility and a ventilator due to lung muscle weakness causing pulmonary failure. I also use IV infusions to help stabilize the autonomic nervous system and increase my heart rate & blood pressure.
Of course, holding a 'normal' job is difficult when living with a severe disability - especially when you average 12-15 hospitalizations a year for things like heart failure, lungs collapsing, and sepsis (from central line infections) and GI bleeds. So, when I needed to work 40 hours a month to maintain health insurance after marriage, I opened Little Free Radical on etsy! I make stuff as I have the energy, and when I'm sick or in the hospital, I get all the "computer work" done (maintaining my website, editing listings, shopping for supplies, etc). I've also brought small tasks with me to the hospital - such as stringing my hang tags! I've learned to be sick and productive at the same time between naps! :)
Since there are no real treatments for mitochondrial disease, learning to conserve your energy is key! I've learned to balance my energy to not over-exert myself. Very rarely do I make something start to finish in one day. When I feel up to it, I'll go cut out a bunch of projects, then rest. Another day I might sew some of it. If I get too tired, I complete the sewing on a different day. Then I have a pile of completed products that just need to be stuffed. :)
Naturally, I wanted to make some products for Mitochondrial Disease Awareness Week - products that would initiate conversations! So. these are the products I came up with for Mitochondrial Disease Awareness Week 2011:
This pin is designed to be a conversation starter to give people affected by mitochondrial disease a chance to explain the role of mitochondrial dysfunction with more common diseases such as autism, alzheimer's, huntington's, parkinson's, ALS, diabetes, etc!!!
I'm a 30 year old, living with childhood-onset, mitochondrial myopathy - one of the 42 diseases covered by the Muscular Dystrophy Association. In fact, it's the same disease that MDA Goodwill Ambassador, Mattie Stepanek and his 3 siblings died of.
Research shows that if the mitochondria malfunction, it can lead to a number of diseases depending on which cells in the body are affected. Mitochondrial dysfunction plays a role in several neurodegenerative diseases including Alzheimers, Parkinsons, Huntingtons, and Lou Gehrigs disease (ALS - Amyotrophic lateral sclerosis), and studies have shown mitochondrial dysfunction to also be a piece to the puzzle for other conditions including diabetes, some types of cancer, heart disease, blindness, deafness, kidney & liver disease, stroke, and autism. Mitochondria also play a role in the aging process!
In addition, as many as 2 million American's suffer from mitochondrial diseases - a group of diseases resulting from gene mutations in the mitochondrial and/or nuclear DNA. When these mutations occur, they can also lead to malfunction along the electron transport chain resulting in cell injury due to insufficient energy from their cellular powerplant (the mitochondria). Cell injury can lead to cell death, and when multiple cells die in one organ, that organ won't have sufficient energy for functioning. As this happens in multiple organs as the disease progresses, the individual can portray a wide variety of symptoms.
MITO STATS:
• Every 15 minutes a child is born that will develop mitochondrial disease by age 10.• It is estimated that of the 4 million children born each year in the United States, up to 4000 develop mitochondrial diseases.
• At least 1 in 200 individuals in the general public have a mitochondrial DNA mutation that may lead to disease.
• There are over 40 identified types of Mitochondrial Diseases and believed to be over 100 variants of mitochondrial diseases, .
• In the United States, more than 50 million adults suffer from diseases in which mitochondrial dysfunction is involved. Mitochondrial dysfunction is found in diseases as diverse as cancer, infertility, diabetes, heart diseases, blindness deafness, kidney disease, liver disease, stroke, migraine, and the toxicity of HIV and other drugs. Mitochondrial dysfunction is also involved in aging and neurodegenerative diseases such as Parkinson and Alzheimer dementia.
• The World Health Organization (WHO) calculates that neurodegenerative diseases, also associated with mitochondrial dysfunction, will become the world's second leading cause of death by the year 2040.
Of course, holding a 'normal' job is difficult when living with a severe disability - especially when you average 12-15 hospitalizations a year for things like heart failure, lungs collapsing, and sepsis (from central line infections) and GI bleeds. So, when I needed to work 40 hours a month to maintain health insurance after marriage, I opened Little Free Radical on etsy! I make stuff as I have the energy, and when I'm sick or in the hospital, I get all the "computer work" done (maintaining my website, editing listings, shopping for supplies, etc). I've also brought small tasks with me to the hospital - such as stringing my hang tags! I've learned to be sick and productive at the same time between naps! :)
Since there are no real treatments for mitochondrial disease, learning to conserve your energy is key! I've learned to balance my energy to not over-exert myself. Very rarely do I make something start to finish in one day. When I feel up to it, I'll go cut out a bunch of projects, then rest. Another day I might sew some of it. If I get too tired, I complete the sewing on a different day. Then I have a pile of completed products that just need to be stuffed. :)
Naturally, I wanted to make some products for Mitochondrial Disease Awareness Week - products that would initiate conversations! So. these are the products I came up with for Mitochondrial Disease Awareness Week 2011:
ABOUT THE PIN: This pin measures approx 1.5" wide by 2.5" tall. It is made with a piece of green ribbon, the puzzle piece is pewter, and hand-stitched to a pin-back! The edges are finished with fray check to increase the life of your pin and prevent fraying!
It comes in a cellophane bag, pinned to a sage colored card professionally printed with the following explanation:
And last but not least, we have DNA cloth balls available in 4" and 7" - great toys for young children & kids with special needs!
But, since it's mitochondrial disease awareness week, I thought I'd do a GIVEAWAY for 3 lucky winners!
You can enter for your chance to win by entering this giveaway via Rafflecopter. You must open the post for the giveaway widget to appear (click on the post title). Rafflecopter makes entering giveaways super quick and easy!
Mandatory Entry: Tell me in a comment below why Mitochondrial Disease Awareness Week matters to YOU! Additional entries are in the Rafflecopter widget (to improve your chances to win).
I also made some headbands with DNA fabric! Green is the color for Mitochondrial Disease Awareness and DNA represents Mitochondrial Disease as a genetic disease! The following sizes are available:FRONT: The green on this ribbon represents energy, and the puzzle piece in the center represents the mitochondria. The role of mitochondria play a key role in many diseases!
BACK: For 2 million people living with mitochondrial disease, it's the piece to the puzzle that explains the connection between a variety of seemingly unrelated symptoms affecting multiple organs - an underlying defect in mitochondrial metabolism.
Studies have shown underlying mitochondrial dysfunction to also be a piece to the puzzle for up to 20% of individuals with autism. Mitochondrial dysfunction also plays a role in several neurodegenerative diseases including Alzheimer's, Parkinson's, Huntington's, and Lou Gehrigs disease (ALS), as well as diabetes, some types of cancer, heart disease, blindness, deafness, strokes and are also involved in the aging process!
Funding mitochondrial research not only benefits people living with mitochondrial disease, but may also help with treatments and a cure for more then 50 million Americans living with diseases in which mitochondrial dysfunction is involved.
For more info on Mitochondrial Disease, visit mitoaction.org"
- Baby - 6-12months: (fits head circumference 43 - 48cm)
- Toddler - 1-3 years (fits head circumference 47 - 52 cm)
- Child - 4-7 years (fits head circumference 50 - 55 cm)
- Adult - 8 years - adult (fits head circumference 53 - 58 cm)
If we don't have your size, you can request custom sizing! :)
A portion of each product sold goes to benefit MitoAction (Mitochondrial Disease Action Committee) - a Boston-based organization dedicated to improving the lives of individuals living with mitochondrial diseases through support, education and advocacy. So far in the past month, through the sale of these products, I've been able to raise over $250 for MitoAction! you can get yours at http://littlefreeradical.etsy.com to help support the cause! :)
But, since it's mitochondrial disease awareness week, I thought I'd do a GIVEAWAY for 3 lucky winners!
Prizes are:
- A set of 2 Mitochondria: The Missing Piece Awareness Pins ($10 value) - or -
- 1 DNA Headband (in the size of your choice) ($12 value)- or -
- 1 DNA cloth ball set (in the color combo of your choice!) ($16.95 value)
You can enter for your chance to win by entering this giveaway via Rafflecopter. You must open the post for the giveaway widget to appear (click on the post title). Rafflecopter makes entering giveaways super quick and easy!
Mandatory Entry: Tell me in a comment below why Mitochondrial Disease Awareness Week matters to YOU! Additional entries are in the Rafflecopter widget (to improve your chances to win).
I'm not directly affected by Mitochondrial Disease, but I come from a biochemical background and have studied it. It affects so many, and I feel like there isn't enough research being conducted.
ReplyDeleteMy son (Christopher) and his twin are both affected with Mitochondrial Disease. His twin passed away during my pregnancy, and it has been determined that the Mitochondrial Disease caused this. Christopher is a sweet, adorable, loving 9 1/2 year old who loves Star Wars and has an amazing zest for life! When Christopher was dxed with Mito the first thing I did was get online and look for people that could understand what I was feeling. For people that could help me decipher all the medical terms, statistics, and blood tests. To help me learn to pronounce these words 'Mitochondrial Encephalomyopathy' and to learn to fight medical professionals for appropriate care for him. Mitochondrial Disease Awareness week matters to me because awareness is the key to finding a cure. To increasing the odds of my surviving son growing up. My hope, my dream, for Mito awareness is to walk into a doctors office, or even out on the street and have people be as familiar with what Mitochondrial Disease is as they are Cancer...When you say the word Cancer people have a picture immediately enter their mind. They usually give their apologies and tell you about their family member who had cancer. You mention Mitochondrial Disease and people look at you like you have just told them there's an alien standing behind them.
ReplyDeleteWe are in the process of "diagnosis" for Mitochondrial Disease. My daughter's testing came back for Complex I Deficiency. Mito. impacts all of our lives.
ReplyDeleteMy third born child was born June 14, 2004 and an hour after he was born he started to have seizures. For the first two months they ran any and every test they could with no leads as to what was wrong - we had all sorts of symptoms but no idea what was causing them. At two months old he was transferred to Scottish Rite/Children's health Care of ATL for a fundo, placing a PEG feeding tube and muscle biopsy. On August Friday the 13th, 2004 my son was dx'd with COXIV. Six years to the exact day - Aug Fri. 13, 2010 I was Dx'd with Mito - after years of you doctor's saying: are too old for that, too young for this, don't you ever have anything normal. We started testing the other four children. They are all affected in some way but my 9 year old is the most affected with a kidney disorder, temperature regulation issues, Aspergers, Scotopic Sensitivity, and a few other issues. Mito Awareness in general is an everyday thing. We live in a small rural town and most of the doctor's have never heard of mito and real don't want you to tell them about it. But that has not stopped me. Awareness, education and advocacy is life and death for us. "It's my life, it's now or never... I am going to live while I'm alive"
ReplyDeleteI have a 2.5 year old in the process of being diagnosed with Mito.. I am a mom but I am also a chemist... so I have been on a quest to help my daughter (and son) since the day they were born...
ReplyDeletemy scientific knowledge has led me to realize there are certain CHEMICALS that my daughter's body (and to a smaller degree me and my son's bodies too) cannot process.... With increased awareness through Mito Awareness week I hope to connect with other parents and researchers so we can team up and MAKE SENSE of this overwhelmingly complicated disease.
Our family is doing that by:
1.Making a video for UMDF's contest: http://vimeo.com/28670747
2. Blogging www.babyfoodsteps.com
and 3. Facebooking about Mito this week.
thanks for having this contest and for making such cool products to spread awareness!
It matters to me because you are the one who brought awareness to me about the disease. You also made me understand why people who may not look disabled on the outside may park in a handicapped spot. Thanks for the giveaway!
ReplyDeleteI agree with Kristin. It matters to me because it matters to and affects you. I'm lucky to call you a friend! Thanks for all of the great information and the giveaway. :)
ReplyDeleteMitochondrial Disease matters to me because my 2.5 year old son, Landon, is effected by it. He was diagnosed on the newborn screening with non-cardiac VLCADD (a fatty acid oxidation disorder). Like you, we live with Mito everyday. I am so happy to have found your blog and etsy shop. We love to support others fighting mito right along with us. I look forward to following your blog.
ReplyDeleteCrystal, thank you for working to raise awareness! My almost 5 year old daughter, Eithene Rose, died in July after a long and difficult struggle with a Mitochondrial Disease (she had a Cytochrome C Oxidase Deficiency). She spent most of her life in our children's hospital, and relied on multiple forms of life-support throughout her life. S One of the worst elements about her Mitochondrial Disease was a severe pain disorder. Eithene started pain medications at 13 months old, and by the end of her life was on a 24 hour infusion of narcotics with many other pain meds needed around the clock. To watch her suffer was a terrible ordeal for our family. She had severe dysfunction in her gastrointestinal tract, respiratory tract, bone marrow, immune system, muscles, autonomic nervous system, and many others. She spent all but one week of the last 15 months of her life in the hospital, fighting an endless series of severe infections and organ dysfunction. Despite these struggles, she loved Jesus, loved to dress-up, hold tea parties, and make jewelry. She was a princess at heart! Her younger brother also has many medical problems, and is currently suspected of having Mitochondrial Disease too. He is affected neurologically, has Autism Spectrum Disorder, and sensory issues. He is also affected in his gastrointestinal tract, and autonomic nervous system. Despite the fact that his problems are currently much more mild than those his sister had, there is no cure and no treatments, and we have no idea how his disease will affect him as he grows. Thank you for working to be part of the hope for everyone affected by Mito!
ReplyDeleteMitochondrial Diseases Awareness Week matters to me because of the words my doctor used to tell me my biopsy results." You have something I've never heard of before..." I have Mitochondrial Myopathy, and had been searching for years, and Mito was NEVER mentioned, why? Because the physicians (plural) I went to did not know it existed. Awareness is so desperately needed, I know there are many others like me.
ReplyDeleteLike Velma I was diagnosed with Mitochondrial Myopathy after Biopsy, also MRI,Lumbar puncture,ECG,electromyography,tensilon test & many others. Plenty of muttering and back turned discussions from various groups of doctors gave me the diagnosis on a piece of paper and the knowledge that it was incurable and progressive.
ReplyDeleteOK so what now,........ that was 6 years ago i'm now 38 and feeling the bite. I know there are worse cases, I don't have a wheelchair yet but I know it's coming, mine for now is one of the almost invisible (I wear ptosis props) illnesses, it grinds you down slowly. So it's difficult for people to understand.
So little information was given on diagnosis that at turned to the internet to find, well not much really. I've read that here in the UK there are only around 3500 cases of MM each with their own differing set of symptoms. Well it's certainly an exclusive club! I've yet to meet anyone else like me.
Keep up the good work in bringing the awareness..
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I have been following this blog for a while now and i decided to share my story on how i survived and got a cure from ALS which would have maybe by now killed me. I was diagnosed with ALS in 2013 and it came with symptoms like overall weakness and i could not swallow and i ended up in a wheelchair though my doctor tried to put me on occupational therapy and physiotherapy but none seemed to give a relief as my condition grew worse in 6 months. I was lucky to have contacted Dr. Joseph and used his herbal medicine that treated me and gave me life, just 3 months of using the medicine which spans for 6 months positive improvements were visible, like my speech, all movements. A few years have gone by and i am still very much alive and healthy. Do not give up, you too can get a cure you can contact him directly on the contact below (josephalberteo @ gmail. com) for advise and effective solution. I pray you get cured soon.
ReplyDeleteThanks to Dr Williams I am so happy today, my wife have been suffering from stroke for the past 8 years now, and i have spent a lot on western drugs which has all proved abortive, i have tried all means in life to get my wife out of this , but there was no answer until i decided to try herbal solution and i found Dr Williams online and i contacted him and after she took his medication as instructed, my wife is now completely cure from stroke within one month of usage, i am so much happy, thanks to Dr Williams for helping me get my wife life back again without any form of crisis, i promise to tell your name and good deeds to the whole world,if you have someone with stroke you can email him on drwilliams098675@gmail.com for more information .
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