my rare disease story: living with mitochondrial myopathy | rare disease blog hop | little free radical

I joined the The Global Gene Project for a BLOG HOP to help promote awareness for the upcoming Rare Disease Day on February 29th, 2012 by sharing my story about living with mitochondrial myopathy.  

Included in my blog post is a GIVEAWAY at the bottom - be sure to check it out! 

In the United States, a disease is considered rare if 

it is believed to affect fewer than 200,000 Americans. 

 

What does the R.A.R.E. Project stand for??

Rare Disease | Advocacy | Research | Education

30 days from now is World Rare Disease Day. Why is the number 30 significant? 30% of children with RARE disease will die by their 5th birthday.


Did You Know:

• An estimated 350 million people are affected by rare disease worldwide.  
• 1 in 10 Americans is affected by rare disease, that's over 30 million people. 30 million Americans is more than the total number of people living worldwide with cancer & aids.  
• There are more than 7,000 rare diseases with some affecting less than 100 people. 75% of rare disease affect children. 
• Almost 80% of rare disease are genetic in origin.
• These rare conditions are chronic, life threatening and FATAL. There are NO cures for any rare disease, and only 5% of the diseases have any treatment.
• Over 50% of Rare Diseases have no foundations, advocacy group or community support.

My Rare Disease Story

Living With Mitochondrial Myopathy

My name is Crystal and I am living with Mitochondrial Myopathy - a metabolic disease of the muscle included in the umbrella of over 40 rare neuromuscular diseases covered by the Muscular Dystrophy Association!

Mitochondrial Disease means that my body cannot properly turn food and oxygen into Adenosine triphosphate (ATP) - the energy molecule necessary to sustain life. Because the disease is in my cells, it affects multiple organs causing secondary diseases.

Although my symptoms started in early childhood, it took doctors over 20 years for a diagnosis, since Mitochondrial Disease is considered RARE.


History of Mitochondrial Disease
Mitochondrial disease was first described in a patient in Stockholm the 1960s, but it wasn't until 1988 that the first molecular identification of cause of mitochondrial diseases occurred. More patients with various forms of mitochondrial disease were diagnosed through muscle biopsies in the 80's and 90s, but it wasn't until the last decade that many doctors began to understand how to identify patients affected by mitochondrial disease.

Additionally, after the completion of the Human Genome Project in 2003, several of the disease-causing genes in both the nuclear DNA genome (nDNA) and the mitochondrial DNA (or mtDNA) genome were identified, and genetic tests have become available to test for them - making diagnosis of mitochondrial disease easier. Additionally, several forms of Mitochondrial Disease can be tested for through newborn screening! 

Though diagnostics are improving, there are still very few doctors that know how to recognize and correctly diagnose it. In my case, I was actually correctly diagnosed in 2005, when muscle biopsied for a misdiagnosis of polymyositis (another rare neuromuscular disease). Mitochondrial Disease had never been 'suspected' in me, so when my biopsy was sent to a lab they realized it had been mitochondrial myopathy all along, not an auto-immune disease as I had been mis-diagnosed with several times.

How Mitochondria Work:
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.

What Happens When They Don't Work?
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 more common conditions including diabetes, certain cancers, 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.

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.

Another person with mitochondrial disease may present completely different. Some individuals may have less trouble walking and more trouble with issues like learning disabilities, autism, cognitive problems or developmental delays. Some may become deaf or blind while others rely on feeding tubes for nutrition. No two individuals (even within the same family) will present the same way. Because of this, it makes it harder for many doctors to recognize the signs.

Did You Know: There are more children in the US affected with Mitochondrial Disease then all forms of childhood cancers combined! Mitochondrial Disease may be considered a "rare disease," but it's far more common then you'd think! At least 1 in 4,000 people in the United States are living with Mitochondrial Disease! Who are some of these people? Here are a few familiar faces:

Actress Chandra Wilson (Dr. Miranda Bailey from Grey's Anatomy)'s daughter, Serena is living with Cyclic Vomiting Syndrome (CVC) - a Mitochondrial Disorder. She shared her daughters story  on The Doctor last year:

Baseball Player, Rocco Baldelli put mitochondrial disease in the news in 2008 when he was diagnosed with Mitochondrial Disease. He was later diagnosed with a channelopathy, but his story inspired many young children also affected by Mitochondrial Disease. During his career, he played for both the Tampa Rays & the Boston Red Sox, but after numerous injuries, his health forced him to retire at age 29. 













"I physically don't feel like I should be playing anymore.'' - Rocco Baldelli 

Charles Darwin (father of evolution) spent his life battling a chronic medical condition which multiple researchers believe to be a maternally inherited (mtDNA) Mitochondrial Disorder. Here are some articles about it:

• Feature: Diagnosing Darwin
• Darwin's mitochondria  
• Darwin’s illness revisited

Mattie Stepanek (MDA National Goodwill Ambassador 2002-2004) also lived with Dysautonomic Mitochondrial Myopathy and died shortly before his 14th birthday.  Since Mitochondrial Disease is genetic, Mattie's entire family was affected by the disease. His mother, Jeni, lost all 4 of her children to the disease. Here's his story as told by his mother:

They're not going to find a cure to this disease, in my lifetime. 

But like Mattie, I believe that finding a cure to any of the diseases is not about a specific lifetime, it's about being a part of the effort because it's somebody's lifetime. 

          I am a part of the cure whether that cure is found in 10 years or 100 years.               

- Jeni Stepanek

My Blog Hop GIVEAWAY:
In celebration of the R.A.R.E. Project Blog Hop, I'm giving away a copy of Jeni Stepanek's book, Messenger: The Legacy of Mattie J.T. Stepanek and Heartsongs (a $15 value)
By Jeni Stepanek (author) with Larry Lindner (collaborator)

An inspiring look at a young man who embodied the best of human nature, touched millions, and worked tirelessly for peace-told through the eyes of the woman who raised him.

Oprah Winfrey has called him "an inspiration," Maya Angelou saw him as a kindred spirit and fellow poet, and Jimmy Carter described Mattie Stepanek as "the most remarkableperson I have ever known." When Jerry Lewis received his lifetime achievement award at the Oscars, footage of Mattie played behind him. Five years after his death from a rare neuromuscular disease, Mattie is still being celebrated for his indomitable spirit and message of hope. Now the world will get to know the full story of the poet, the peacemaker, the philosopher, and New York Times bestselling author in the first book to share all of the intimate details of his incredible life.

In Messenger, Mattie's mother, Jeni Stepanek, recounts the years before Mattie got sick; how he handled the loss of his siblings from the same disease he had; his decision to spread the message of peace and hope; and how, when he became a celebrity, Jeni helped to keep him grounded, and remember to embrace being a kid. Including never-before- seen poems, journal entries, photos, and correspondence with famous friends, Messenger is an inspirational book about a life lived to the fullest.

You can enter for your chance to win by entering this giveaway via Rafflecopter. If you haevn't already, 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 Rare Disease Day matters to YOU! Additional entries are in the Rafflecopter widget (to improve your chances to win).Giveaway ends 11:59pm on Rare Disease Day - February 29, 2012
a Rafflecopter giveaway

babywearing from a wheelchair | international babywearing week | little free radical

Since it's International Babywearing Week, I thought I'd blog about the adventures of babywearing at our house!

Sophie, 15 months wearing Bitty Baby in her Beco Mini

"Babywearing" simply means holding or carrying a baby or young child using a cloth baby carrier. Holding babies is natural and universal; baby carriers make it easier and more comfortable, allowing parents and caregivers to hold or carry their children while attending to the daily tasks of living.

Babywearing helps a new dad put a fussy newborn to sleep. It allows a new mom use both hands to make a sandwich. It lets an experienced parent or caregiver carry a baby on her back and wash the dishes, do the laundry, take a hike, or weed the garden, all while keeping the baby safe and content.                             

  - Babywearing International

Babywearing was something I knew I would do years before I actually became a parent. I had several friends with ring slings, and I thought they were fantastic! So while most of the other parents on 1st trimester pregnancy forums were chatting about the cutest little outfits they saw at the mall, I was busy looking at slings, wraps, and soft structured carriers.

I was totally excited when I went to Diaper Lab (Somerville, MA) and discovered that in addition to cloth diapers, they also sold several types of baby carriers. And of course I was even more excited when they were offering a babywearing workshop where I could drag my husband to go learn about babywearing safety and have someone demo the various types of carriers.

Being a soon-to-be-parent living life from a wheelchair, due to neuromuscular disease (Mitochondrial Myopathy) sort of complicated things.  As I began researching, I decided the important things I needed in a carrier were:

• One that would be easy to put on while sitting.
• It needed to be comfortable to wear while sitting - no lumpy ties or buckles between me and the back of my chair.
• To be able to breastfeed from the carrier on the go.
• And it needed to be very supportive of the baby without overworking my muscles as mitochondrial myopathy is an energy metabolism disease - and finding ways to "conserve" cellular energy - including muscle use - is key to managing the disease.
• I should also note that I'm in pulmonary failure due to neuromuscular disease. I deal with collapsing lungs due to lung muscle weakness. A carrier with minimal pressure on the chest is very important for me! I do have a wheelchair with both tilt & recline functions which can relieve some of the stress of the carrier on my muscles & chest.

I also found the Boston Babywearers group and went to a meeting while 7 months pregnant since I wanted to try some carriers to see how they felt before I was "TOO big" to get a good feel of what it would be like. 

Wraps: I figured out quickly watching at Boston Babywearers & Diaper Lab's workshop that a wrap would not be ideal to put on in a wheelchair. It's essentially a long piece of fabric that you can tie around yourself to hold the baby. Moby Wraps are a popular brand - but watching a demo of how to put it on, seemed way too tricky for me to attempt with a newborn in a wheelchair! 

Mei-Tai: While pregnant, I thought the Mei Tai would be awesome. A friend gave me her pink BabyHawk since she had a boy the 2nd time. I did use it several times, from my manual wheelchair when Sophie was a newborn, but found tying it to be difficult from a high-back power wheelchair. I do plan to try it again now that she's 15 months, to see if I can get the hang of it, since she can sit up independently - unlike how it was at 2 months when I tried. Also, the ties got "lumpy" behind my back.

Ring Sling: I knew this was the must-have,as they are easy to get on/off, are great for a wide age-range, and breastfeeding was easy in this position. 

Pouch Sling: I loved these too, but because I ended up with severe generalized edema while pregnant,  I decided against getting one since my size would change as the fluid distribution shifted. I didn't want to buy one only for it not to fit me later. Plus the way you wear it looked a bit limiting from a manual wheelchair when I needed 2 hands - a ring sling was a bit more adjustable.

Soft Structured Carrier: I'd heard many pro's & cons about these - carriers like Bjorn, Snuggli and Infantino (aka in the babywearing community as “crotch-danglers”) tend to give all soft structured carriers a bad reputation because of the unnatural positions they put babies into which can be stressful on a baby’s developing hips and spine. While they might be "safe" for an occasional walk around the mall or a trip to the grocery store, these are far from ideal when babywearing for hours - much like how it's not good to leave a baby in an exersaucer or jumperoo for extended periods of time. but unlike these toys where the baby's feet can touch the ground, a baby "hanging" in a soft structured carrier for hours just has his or her legs dangling. Of course it's slightly different in the case of a parent in a wheelchair who would wear the baby sitting instead of standing, but to avoid these issues, I almost overlooked this category of carriers altogether... must after much research, I decided to give them a try - I'll explain later.

My first baby carrier was a Sakura Bloom Linen Ring Sling - which I got for about $88 at Diaper Lab. I had it packed into my hospital birth bag so that I could start using it the day Sophie was born! And yes, she was less then 24 hours old (or new?) when I first put her in. She was cozy and happy right from the start. Here she is 2 days old... is it me, or is that a smile I see in the photo on the left? :)

 

I loved my ring sling in the early months! As a newborn, Sophie and I went everywhere with it. Of course people see a parent in a wheelchair and all have to point & stare... I must have been asked a good dozen times, "is that a real baby in there?" (like what, did they expect me to be rolling around with a doll? um, no)! Of course once I clarify that yes, Sophie is a real baby, people want to know "where I got her."  - but I'll save the questions I get asked as a parent in a wheelchair for an entirely separate blog. :)

Babywearing with Central Line Access: The only thing I wasn't thrilled with was the baby's head being so close to my accessed port. If you look closely in the photos you'll see the yellow port needle, where it's accessing the port implanted in my chest (for IV infusions). I always had to adjust the sling low enough early on so her head wouldn't be resting on the hard plastic and hurt her or me. I ended up with sepsis when she was about 2 months old and ended up losing that port - so I had them replace it with a tunneled central venous catheter instead - not soley for babywearing reasons of course, but it seemed the best option after meeting with Infectious Disease, my infusion company and doctors. I found this type of line to be much more comfortable for both of us while babywearing. It's softer and doesn't hurt as much having a head against my chest all day. 

Babywearing Sophie at 7 weeks old - in Colours Razorblade Manual Wheelchair - Rockport, MA

Babywearing a High-Tone Baby: I did find the ring sling easy to use from a manual wheelchair with a newborn. However, Sophie has hypertonia (high muscle tone), so it did get tricky at some points trying to find a position comfortable for both of us. By around 4 months, she decided it would be wicked awesome to spend her days like a jack-in-the-box. I put her in the sling asleep so we could go out, and suddenly she'd wake up and pop up to see what was going on in the world. I'd have a hard time repositioning her in a way that she would stay. She would stand all day and play at home by 5 months - but was unable to stay sitting unassisted til she was 7 months due to her muscle tone. Having a "stiff kid" can be a bit tricky in a sling. It was at this point where I decided to re-think the idea of a soft-structured carrier.


I did my research again about carriers, visited Boston Babywearers again to try products with Sophie this time, and was torn between the Oh Snap! BabyHawk and the Beco Butterfly 2 - but finally decided on the BB2 as seemed to be more comfortable for me personally - of course "comfort" may vary depending on people's sizes & shapes. 

I loved the Limited Edition Echino Scooter Beco and ordered it from Pax Baby for $205 in October. It was supposed to arrive mid-October, but sadly it took til mid-December for it to arrive since she was importing it from overseas. So, October-December were very long months waiting to test it out. It was worth the wait though!

Sophie loved it right away! Once again, I could take her out all day and she was happy. It was comfortable for me too. I have low muscle tone & poor "trunk control" due to neuromuscular disease but we had a great first 6 months with it!

But around her birthday, it started to get a bit trickier for me to carry her - She decided it was fun to "stand" in it all day, and as she was getting taller, her face would be in my way. I'd be trying to roll down the sidewalk, but Sophie kept standing trying to look me in the eye. If I moved my head to see where I was going, she'd follow me - she thought it was the best game ever!

Then she started finding new games including:

• Let's pick mom's nose!
• Let's take off mom's glasses I can pokey mom in the eyeball!
• And my (least) favorite: Let's take the chewed food out of my mouth and put it in mom's mouth, then take it back for my mouth! 

Plus all this standing/jumping on my lap all day was putting a lot of pressure on my back and shoulders. That's when I decided to re-think the front facing carrier issue. Babies can get overstimulated easily in a front-facing carrier which is one reason NOT to (in addition to the fact that most front-facing carriers are also the crotch-danglers I described earlier). But Sophie was now over a year old. I thought it seemed to be an okay time to let her sit front facing on my lap.

I looked at several carriers - checked weight ranges, hip support, and other factors before deciding to go with another Beco - the Gemini!  It had the option for the baby to face in either direction. It was also easy for me to turn Sophie between front & rear facing without having to take her completely out - something I wanted - in case she fell asleep or if I wanted to talk to her.

As soon as the Gemini arrived, we took it out for a test-drive around the neighborhood. Sophie had a blast  "flying" (yes, with her arms straight out) on mom's lap! It was a whole new view of the world for her! She's happy & content and isn't jumping on me all day - I love it, she loves it!

I'm hoping to get at least another 6 months of use out of the Gemini. I've also been using the Sakura Bloom Ring Sling again. It got a bit easier as Sophie got older to position her in it and I've found a few of fantastic positions over the summer that can be done in a wheelchair!!!

We are going to Boston Babywearer's group on Wednesday to look for "Toddler Tricks" from other moms and of course to celebrate International Babywearing Week! But this summarizes my experiences with my first 15 months of babywearing as a parent living an active life from a wheelchair.


NOTE: If you're pregnant or a parent in a wheelchair, feel free to comment or contact me if you're shopping around looking for carriers and baby gear! I'd be more then happy to give you more details on what worked - and what didn't work from my experiences. :)

tiny studio, gigantic results | media story | little free radical

Little Free Radical was featured in the local newspaper this week! Here is the article:

Tiny studio, gigantic results
North Revere resident finds success — and strength — in her home-based sewing business

Photo Credit: Ana Paula Massoni of Massoni Photography

By Seth Daniel
Revere Journal
September 28. 2011

When Crystal Evans surveyed the challenges facing her two years ago, she realized she had to turn somewhere.

She was battling a degenerative neuromuscular disease, Mitochondrial Myopathy, and had become confined to a wheelchair. Her disease prevented her from holding a regular job. She was struggling to keep her health insurance in effect. And she and her husband couldn’t get legally married because it would cancel her health insurance. Meanwhile, they were expecting a baby.

For that long and complicated list of problems, the last solution she would have thought to pursue was starting her own business, but that is what she did and it’s what ended up changing her life for the better.

In fact, sewing children’s toys for her one-woman company, Little Free Radical* - based out of the family’s North Revere apartment - has been just as therapeutic for her illness as it has been successful.

“Sewing is actually very therapeutic for me and I’ve gained a lot of my strength back since starting my business,” said Evans, whose pieces were recently featured at a Celebrity Gift Lounge event associated with the Primetime Emmy’s in Hollywood. “This business has helped me therapeutically and helped me get out of the situation with my health insurance, all at the same time. Running a business also helps emotionally when you’re dealing with chronic illness. A lot of my friends with this illness get down and it’s hard for them. They look at me like I’m insane because I’m happy. The business is my motivation.

As an aside, she said Mitochondrial Myopathy is a disease that’s in the same family as Muscular Dystrophy. Over time, the illness weakens the muscles and prevents the body’s cells from turning food into energy. It results in a debilitating condition where complete major organ failure is possible at almost any time - simply because the body does not have enough energy to keep them going.

Evans entered her entrepreneurial endeavor quite by accident. About two years ago, Evans and her husband moved to North Revere’s Overlook Ridge community from Somerville. After having their first baby, she began sewing some stuffed balls and other toys for her daughter to play with. Sewing was something she could do in her wheelchair and was also something she had learned how to do many years ago in high school.

One day, while hosting a friend, she was asked why she didn’t sell the toys she was making. That’s when the gears started turning. “I would sew little stuffed balls, and I made a tu-tu, some stuffed animals and some dresses,” said Evans. “My friend thought they were the best thing ever and the other people she showed it to saw them and started asking me to make the same things for their kids...The problem with a regular job was that I’m in the hospital, sometimes once a month. You can’t hold a job when you’re constantly sick or don’t feel well a lot. So, I decided to run with this and start something at home.” Getting the business off the ground, ironically, proved to kill three or four birds with one stone.

Evans said she and her husband had been prevented from officially marrying because it would have caused her to lose her state health insurance - which she desperately needed for her illness. One of the issues was that if she married, she had to work 40 hours per week. Obviously, she wasn’t able to do that at a traditional workplace, but working full-time from home could very well be done.

“I approached the people at MassHealth and they loved the idea,” she said. Once everything was set, she and her husband finally tied the official knot. Two birds down. Once she set up her business, displaying items in a boutique in Cambridge and setting up a high-visibility online store via the Internet, she began to get several orders. Pacing herself, she began working on the orders and it began to help improve her physical and mental condition. Her Internet store, which is on the well-known crafting site Etsy*, helped her find materials and get orders. “I have to pace myself because if I get too strained, I could have complete organ failure,” she said. “However, maintaining a certain energy level is good for the Mitochondria.” Third bird.

Finally, the icing on the cake was that Evans’s business really began to take off. After being invited to join The Artisan Group, Evans was asked to make items for a Celebrity Gift Lounge event at the W Hotel in Hollywood, an event that preceded the Primetime Emmy Awards earlier this month. Celebrities such as Cloris Leachman and others were seen playing and endorsing her toys. It was tremendous exposure and similar opportunities will be available to her in the future, she said. “It was  pretty cool because the event organizer’s daughter liked my toys and picked them up and started playing ball with a lot of the celebrities,” said Evans. “So, my products got a lot of exposure that was totally spontaneous and unexpected.” For now, Evans has stuffed balls available and cloth stacking toys. She said she has plans to add toy elephants and baby bibs.

The remarkable part is she’s still sewing circles around the competition. “I was in the ICU in 2009 and they told me they didn’t expect me to last another year,” said Evans. “Well, I had a baby, was finally able to get married and I have my own business. I’m still here. I am still in the hospital a lot of times, but I am still here.”

Follow Us:

  facebook | twitter |  blog |  etsy |  website

*spelling of Etsy corrected from Etsi and business name corrected to Little Free Radical from "Tiny Free Radical"

mitochondrial disease awareness week | giveaway | little free radical

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.

 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.

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:

  Mitochondria: The Missing Piece Awareness Pin

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!!! 

 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:

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"

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:

• 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! :)

And last but not least, we have DNA cloth balls available in 4" and 7" - great toys for young children & kids with special needs!

 

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!

How to Enter Rafflecopter Giveaways from Rafflecopter on Vimeo.

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).