Thursday, March 1, 2012

Rare Disease Day 2012

Today is Rare Disease Day.  You many recall this post from the Rare Disease Blog Hop on January 30th.  That was exactly 30 days ago which is significant because 30% of children with RARE disease will die by their 5th birthday.  

An estimated 350 million people worldwide are affected by rare disease.   There are more than 7.000 rare diseases, some affecting less than 100 people.  75% of rare disease affect children.  About 80% of rare disease are genetic.  These rare conditions are chronic, life threatening and FATAL.   

that's more than 30 million people, more that those living with cancer worldwide 
There are NO cures for any rare disease, and only 5% have any treatment.
Over 50% of rare diseases have no foundations, advocacy group or community support.

My rare disease is Mitochondrial Complex I Deficiency and it is one of the many Mitochondrial Diseases.  I have had it since conception (genetic), but wasn't diagnosed until I was 15 after my second metabolic stroke when I was 14.  I had my first metabolic stroke when I was 18 months old.  I wrote a blog post to reflect on that day: 10th Anniversary.  It was after my most recent stroke and my lack of a "normal" recovery course that my doctors considered Mitochondrial Disease.    

The symptoms of Mito are as wide in variety as they are in severity.  You could have two people in the same room with completely different issues and on opposite ends of the spectrum in terms of severity, but they both have the same condition.  

Symptoms of Mitochondrial Disease
Also, the symptoms of this disease are things that alone are pretty common among the general population such as diabetes, cataracts, deafness, GI issues, poor balance, cramps, muscle weakness, etc.  I have about 8 of the symptoms on this chart.  

Symptoms not listed on this chart include, neuro-psychiatric disturbances, migraines, Autistic features, mental retardation (not my term), atypical Cerebral Palsy, absent reflexes, fainting, Dysautonomia (temperature and BP dysregulation, among other things), hypoglycemia, fatigue, failure to gain weight, short stature, respiratory issues, optic atrophy and a few others (UMDF).  I have 9 of these.  

Like all of the other rare diseases, Mitochondrial Disease as a whole does not have a cure or even a proven treatment.  The meds that I take treat the symptoms, but have not been proven to improve mitochondrial function.  1 is 2,000 babies will develop Mitochondrial Disease in their lifetime; half will develop it before their 5th birthday.  These diseases are nearly as common as all childhood cancers combined (Wish Upon a Cure).  Every 30 minutes a child is born that will develop a form of Mito by age 10.  At least 1 in 200 in the general population have a mtDNA mutation that may lead to disease.  The first adult was diagnosed with Mitochondrial Disease in 1960s, the first child was diagnosed in 1980s (UMDF).   

Most with Mitochondrial Disease are prescribed a cocktail (no, not the kind you would get at a bar).  The Mito Cocktail is a variety of vitamins and minerals prescribed with the idea that they will improve the function of the mitochondria.  Just as two people with Mitochondrial Disease can have different symptoms and severity, same goes for the cocktail.  The cocktail is custom made to everyone with Mitochondrial Disease because each has their own needs and may have deficiencies in certain levels such as CoQ10 or Creatine.  Some of the ingredients that might be in a cocktail include, CoQ10, B vitamins, C, E, Selenium, Biotin and others.  With all the meds and vitamins, those with Mito might look like this picture -->    

While the vitamins can be bought over the counter, many choose to have all the ingredients combined into one or two pills or liquids which pails in comparison to the 15 pills per day it could be otherwise.  However, because the effectiveness of the cocktail and the ingredients have yet to be proven in research studies, health insurance companies may not cover the cost.  (I have been fighting with my health insurance company for months.)  This is where you, my readers come in.  Yes, you!

Health insurance companies are denying life-saving medicine to patients who suffer from Rare Diseases.  There are medicines and supplements already approved by the FDA (for treatment of other more common illnesses) that are prescribed for Rare Disease patients.  Since the FDA hasn't approved these medicines for use with a Rare Disease, it is considered "off-label" use and insurance companies are using this as means to deny patients the medicines they need.  Please help those with Rare Disease get the treatments we need by signing this petition.  

Day to day life with a Rare Disease is random.  One day five things may be bothering you, the next day it could be five different things, the following day it could be three things from yesterday and two from last week.  These changes are daily and happen without rhyme or reason.  Unless directly asked by someone who shares similar shoes, I don't usually share all my symptoms or "annoyances".  

While healthy and "normal" people may have one doctor that they see annually or when they are sick, I have one for most every body system.  I not only have specialists, but also sub-specialists.  I have Neurology and Ophthalmology, but also Neuro-Ophthalmology.  Some doctors I see as needed, others are every six months and there are a few that I see about every three months.  If having so many doctors isn't crazy enough, when I have an issue, it's not always clear cut who I should call.  One example is when I feel tired after eating chocolate do I call Neuro, Genetics/Metabolism or GI?  Also, I have a PCP but what I tell her at least three other doctors are going to have to know about which sometimes forces the question, why do I need a PCP when I have everyone else?    

Then there is always the awkward situation of meeting a new doctor who hasn't read your chart before walking in and asks, "Mito what?" or "How do you spell that?"  Often times this can be fun because rarely does the patient tell the doctor about their disease, it's usually the other way around.  The ER and when I am sick are situations where I don't really feel up to explaining what I did above.  Furthermore, when I am sick with a belly bug or respiratory illness, my body doesn't "bounce back" as quickly as those who don't have Mito.  I had the achy flu last March and it took me about three months to get back to baseline.  Belly bugs need to be treated promptly since I cant afford to loose electrolytes from vomiting, etc.  Never mind, the lack of eating that occurs with belly bugs.  

There have been times where I have gone to the ER not feeling well at all and I tell the resident and attending physicians what I need (labs, which MDs to call, etc) only to have them not listen.  The worst is when you have to advocate so strongly for yourself that you actually look better in their opinion.  In their opinion truly sick people don't have the energy to "kick people into gear".  When this happens, they may not feel the need to call the specialist you told them to upon arrival.    

Like at least some of the other rare diseases, in some cases, Mitochondrial Disease is often invisible, you can't "see" it on the outside.  I participated in Rare Disease Day not only to raise awareness of rare disease, or Mitochondrial Disease, but invisible illnesses as a whole.  Given the statistics above, there are probably more people than you are aware of who have their own "medical life" of meds, appointments and tests.  Just because someone may look healthy and fine on the outside, doesn't mean there isn't a war going on inside their bodies.

Yes, I do have a disease without cure or treatment, but I know for a fact that if I did not have Mitochondrial Disease, I would not have my mito sisters Chelsea, Sarah and Stefani.  Sometimes, it's easy to only look at the negative or what you can no longer do because of an illness or injury.  We have all heard the phrase, "everything happens for a reason", but have you ever truly thought about it?  Sometimes it is hard to see the positive coming out of a negative and it may take time to see it, but its there.  

Chelsea, myself, Sarah and Stefani.
Yes we have had our ups and downs as a group as well as individuals, but this road into the unknown is much easier when you have people to guide you along the way.  This post will tell you more about the path we have walked together.

When I posted on Facebook that I was writing my post for Rae Disease Day, one of my friends messaged me and said, "MITO ISN'T RARE!!!  1 in 2,000 isn't rare, is it???"  Unfortunately to us, those who have it or have children with it, Mitochondrial Disease is not rare, yet most lay people have never heard of it.  Again, t
hese diseases are nearly as common as all childhood cancers combined (Wish Upon a Cure).  Every 30 minutes a child is born that will develop a form of Mito by age 10.  Everyone has heard about cancer.  Yet because Mitochondrial Disease is basically an umbrella to cover all types and forms of the disease, more research needs to be done into how the different forms of Mito work because until that is understood, treatments and cures are the next step.  Nothing can be fixed unless you know how it's broken.  

MitoAction (community outreach and support) along with the United Mitochondrial Disease Foundation (research) are working hard to promote awareness and research so that one day every physician with at least know what Mitochondrial Disease is and there will be proven treatments so nobody has to fight with their insurance company over the cocktail.   

I like comments so please let me know what you thought.  Did you enjoy this post?  Was it too long?  Anything you want to know more about?  Any thing else?


  1. I totally agree with you sister! think docs should be more informative with mito conditons instead of being confused. and of course my mito condion is invisable most people say i look well and should be out working!! how do they know what my life is like with PEG tube and cochlear implant (also deafness is an invisable type) but i hear with my cochlear implant well but we all have our good days and bad days. there should be more awareness to doctors GPs and hospitals because it affects just a few people.
    i have met many a doctor where i have to explain my mito conditon to them
    great blog liz x

    1. I agree with you!! I can work, just unemployed currently. Even then, the job hunt is incredibly daunting because I don't want to make any promises I can't keep. College was easier in one regard because it's 24/7, not 9-5. I could do the work when I could and choose my schedule.

  2. Loved the always Liz!!!! ;)

  3. keep on fighting liz x


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