Tuesday, September 20, 2011

Mitochondrial disease is a killer

Light a Light for Mito 
On Wednesday September 21st, 2011, as we celebrate and join together to raise awareness for mitochondrial disease across the globe, we remember those who have lost the battle with mitochondrial disease and ask that friends and family "Light a Light" in their memory.

This idea is from MitoAction and I thank them for that. Everyday some parent, or adult is told you have mitochondrial disease. Everyday a parent or adult is told we have done everything we can, there is nothing left to help you. Everyday someone passes away due to mitochondrial disease or it's complications. 

Some families don't even know that mito was the culprit until testing comes back weeks later. Other families barely had time to register what mitochondrial disease was before it was over. Most of us with mitochondrial disease live with it for years. We see the disease progression. We know the end. 

Like a patient with incurable cancer we know the disease is attacking our digestive systems, heart, liver, or muscles. Leaving our lives in shreds and we have no way to stop it. 

Mitochondrial disease can be a steady progression downward. Mito can be a surge downward when an infection attacks the body. There are mito patients that spend more time in the hospital in a year than out. While in the hospital, with our weakened immune system, we pick up viruses that lay dormant waiting for the body to become weaker and then pounce just as deadly as mito itself. 

One of my lovely children has at least one of those viruses waiting in her lungs. As a parent can you imagine my fear when she starts to cough? 

Please join us today in making the picture from above your pic on FB or Twitter in honor of those that have passed away, and a silent hug to the families left behind. Thank you.

Monday, September 19, 2011

The ABC's of a very complicated disease

United Mitochondrial Disease Foundation describes mito (shorten version generally used) as this:
“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.”
That makes it sound like a steady loss of power to the body's cells equals disease and a steady progression to death of the cell, organ, or the person. Mito is not that easily captured. Mito can seem to wax and wane. Many adults and teens are misdiagnosed with Multiple Sclerosis or lupus. Babies are often diagnosed with Cerebral Palsy. This is a VERY complicated disease that is woefully under-educated in the medical community.

Problems That May Be Associated with Mitochondrial Cytopathies
Organ Systems Possible Problems
Brain developmental delays, mental retardation, dementia, seizures, neuro-psychiatric disturbances, atypical cerebral palsy, migraines, strokes
Nerves weakness (which may be intermittent), neuropathic pain, absent reflexes, dysautonomia, gastrointestinal problems (ge reflux, dysmotility, diarrhea, irritable bowel syndrome, constipation, pseudo-obstruction), fainting, absent or excessive sweating resulting in temperature regulation problems
Muscles weakness, hypotonia, cramping, muscle pain
Kidneys renal tubular acidosis or wasting resulting in loss of protein, magnesium, phosphorous, calcium and other electrolytes.
Heart cardiac conduction defects (heart blocks), cardiomyopathy
Liver hypoglycemia (low blood sugar), liver failure
Eyes visual loss and blindness
Ears hearing loss and deafness
Pancreas and Other Glands diabetes and exocrine pancreatic failure (inability to make digestive enzymes), parathyroid failure (low calcium)
Systemic failure to gain weight, short stature, fatigue, respiratory problems including intermittent air hunger, vomitting
Taken from Mitochondrial News, Fall 1997 Issue by Bruce H. Cohen, M.D.

The tract of this mitochondrial disease can be everything from horribly affected before birth with low birth weight, still birth, birth defects, or severe problems at the moment of birth. These babies are often affected with a severe fatal form of mitochondrial disease and may not see their 2 birthday. On the other side of the spectrum it can be a muscle based extreme weakness and exercise intolerance. Most affected people fall between these two.

Babies and young children develop problems as they grow autism, cerebral palsy, breathing issues, immunity problems, etc. Unless an obvious indicator for mitochondrial disease is found these children are in limbo searching for months or even years for why they are so sick.

Adults are the often forgotten group of affected. Not too many years ago this population was mostly ignored unless they presented with "classic" eye muscle paralysis, loss of hearing, or eyesight. Adults are often left in limbo as testing of this complicated disease can lead less educated doctors to become frustrated. A frustrated doctor or an ER that sees a patient too many times can note on the person's file that they have mental health issues.

How horrifying that is to teens or adults that may need the mental health assistance in dealing with a chronic life altering disease. Many adults will shy away from seeking this help because of the fear they will not be properly treated for their medical problem. It is a balance that is so delicate and can be easily upset leaving a patient in dire need of ALL the support the medical community can give them, on their own.

Mitochondrial disease is not an easy disease to understand, test for, or diagnosis. There is no cure or treatment and many doctors I have dealt with do not want to diagnosis mito because of there is no cure or treatment. They feel by diagnosing me with mito they have somehow failed me.

The diagnosis of mitochondrial disease is a horrible nightmare for a parent. A breath taking blow to an adult that had dreams of marriage, children, and having the American dream. There is NO easy way to deal with this diagnosis and disease. You will grieve. You will get angry. You might even face resistance in unexpected places like your family as they desperately don't want this to be true.

I can tell you having walked this road that you will get through. If you can find a support group near you of other parents and affected individuals then please attend. If like me there is not anyone else near by, try an online group like Mito Families! There is a Mito Families! news, and Mito Families!  .(this is a closed group so you will need to ask to join). I also put out a newsletter (when I get back up on me feet from my stroke.)

Here are several organizations that help patients with support, raising awareness, and encouraging research.
United Mitochondrial Disease Foundation

Sunday, September 18, 2011

Why we desperately need mitochondrial awareness!

Heather and all 5 children are suffering from mitochondrial disease. Several of us have had strokes, several of us need wheelchairs or other devices to walk, 3 of my children do not sweat or shiver (Can you imagine never knowing if you where too hot until you had a heat stroke, or too cold until you saw the frostbite?) Heather has lost the ability to swallow solid foods and digest properly. The list goes on and on because mitochondrial are in almost every cell in the body!

We started Mito Families! in the hopes of reaching out to other families and help them through this very rough journey. It took us 7 years to be positively diagnosed with mitochondrial disease. Years of having to drive around the country to see specialists. There were always questions... why is one child more sick than another, why can't the doctor's just fix this, why can't the doctor's just tell you what is the matter. At times we were terribly lonely, sick, and full of questions ourselves.

We could never walk away from the search. The kids and later I (Heather) continued to worsen. We learned to trust our medical team. We began educating our relatives, friends, church, anyone that would listen in mitochondrial disease. Through education of this disease our lives and the lives of those that will deal with this someday will be better.

Another HUGE reason for mitochondrial awareness and education.... There is NO direct treatment. Only this year has 1 possible medication been put into clinical trial. There is NO cure. There is no office at the National Health Institute or elsewhere that compiles all the research and creates studies and medicinal trials for the mitochondrial community. We MUST have cooperation. 

Please whether you are directly affected or not help us spread awareness of this devastating disease.

Monday, September 5, 2011

Mito hit me with a sledge hammer!

Days after writing my last post I was hit with the mito sledge hammer. I had a stroke. The stroke caused or was closely followed grand mal seizures that are not easy to control. The third big hit was my stomach has slowed down almost to a halt along with my swallow muscles can no longer handle anything bigger than liquid. Mito is nasty that way.

A person with mitochondrial disease can be doing well for a long time or with minimal progression then take a sudden dive medically. Stress on the body like infections, heat, cold, or physical overexertion can cause disease progression. The best way to demonstrate this...

Think of the heart of summer in California. Everyone has their a/c on and all the normal electronics. Everything going full blast at once. A high function energy system can begin showing signs of stress and having rolling brown outs. What if that energy system had limited energy to begin with before this stress was ever added you could have severe outages. The same holds true with mitochondrial disease.

I was stressed system wide by whooping cough and the end of a long illness filled winter. A portion of my brain where I have had strokes before seems to be very vulnerable to this energy outages. I had a outage that caused a stroke.

Mitochondrial strokes are not your typical vascular stroke. Mitochondrial strokes are usually metabolic strokes. Often they do not immediately show up on MRIs and some may never. This is one HUGE reason to have a neurologist caring for you/your child that is experienced with mitochondrial disease. They know what to look for and how best to care for you through this difficult time.

An important rule of life for a person with mitochondrial disease, keep the stress of ALL kinds to minimum!

NOTE: Mitochondrial Disease Awareness Week is fast approaching! September 18-24th