The invisible disease that's killing our son

(CNN) -- On July 5, 2011, my husband and I were told that our 2-year-old son has an invisible killer living inside his body.

Just a few short years ago, I was happily pregnant. Now, suddenly: Why? What? When? All these questions came with so few answers about a disease that few know about or understand.

That invisible killer is called mitochondrial disease. Our son's specific mutation is called Leigh's Disease.

We're one of the lucky ones. It took us only a year to get a diagnosis -- a year filled with anesthesia, a CAT scan, a muscle biopsy, a lumbar puncture, an MRI, an echocardiogram, an EKG, specialists and so on. Most families spend years attempting to find a diagnosis because of the complexities of DNA sequencing.

This silent killer is attacking our nation's children at an appalling rate. According to the United Mitochondrial Disease Foundation, every 30 minutes a child is born who will develop a mitochondrial disease by age 10.

As a first-time mom, I had no idea that I should have been scared of mitochondria. All I knew was some fuzzy science from high school biology about mitochondria being the powerhouse cells of our body.

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 that person's life is severely compromised. The disease primarily affects children, but adult onset is becoming more common.

We were told that diseases of the mitochondria appear to primarily damage cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. (Excuse me, but what's left?)

Symptoms may include loss of motor control, muscle weakness and pain, gastrointestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual or hearing problems, lactic acidosis, developmental delays and susceptibility to infection.

Mitochondrial disease is similar to cancer in the way it presents itself -- it can manifest in many forms.

Our son currently presents classic Leigh's symptoms: He has four brain lesions near the deep cerebellum. As his body is attacked with viral infections, fever or even as he gets overheated, he is at risk for additional brain damage that ultimately will result in system failures.

My husband and I were told on July 5, 2011, that our son will die an early death. There are no treatments; there is no cure. We left the doctor's office with instructions to start the "mito cocktail" of supplements, continue with therapy and keep him from getting sick.

We also left the doctor's office with a huge, gaping hole in our hearts. Within a matter of seconds, this huge piece was ripped out and we still haven't quite figured out how to put it back together. Our hearts are bigger now -- we can accept more and give more -- but I don't think the hole will ever mend.

It's National Mitochondrial Disease Awareness week. For us, every day we're deeply aware -- our son is lucky.

Our doctor says he has a mild case of what will one day kill him. We get to hear him say, "I love you" and watch him laugh with friends. So many other "mito" kids can't even roll over, swallow their food or see their favorite "Veggie Tales" character on TV.

There are a lot of days I don't feel so lucky. But then this tow-headed goofball comes barreling at me wanting to give me a bear hug (complete with sound effects) and it snaps me out of my sadness.

My son is my hero. He pushes us to keep going. He is the one enduring endless blood draws, hospital stays and experimental drugs.

There is no cure, but there is hope. Recently, Edison Pharmaceuticals received orphan status for the drug EPI-743. We're one of 128 people in the world who somehow managed to get a spot in their research program.

Essentially, the drug is supposed to help Will's mitochondria function better, giving him increased energy and a chance at a better quality of life.

I often find myself feeling guilty that we're on it when there are so many others who should be. Likely, by the time the Food and Drug Administration approves it, many of these children will perish. It's not a cure, but it is a sign of hope.

You might be wondering how you can help. The first thing I would suggest is to get informed. Organizations like the United Mitochondrial Disease Foundation or websites like Mitoaction.orgare good starting places.

Second, get involved. Find your local UMDF chapter and join one of the Energy for Life walks.

And lastly, you probably know someone whose child suffers from asilent or chronic disease -- autism, diabetes, multiple sclerosis, mitochondrial disease or cancer. We all just want to be "normal." A hug, a kind note of support or just a friendly smile at the grocery store goes a long way.

Leigh's Disease - Facts and Information

Information provided by Thomas C. Weiss - Published: 2010-02-16

Leigh's disease is a form of rare inherited neurometabolic disorder that affects a person's central nervous system.

Defining Leigh's Disease

Leigh's disease is a form of rare, inherited neurometabolic disorder that affects a person's central nervous system.Describing any metabolic affect on the nervous system  means neurometabolic. The disorder is progressive and starts in infancy between the ages of three months and two years. On rare occasion, Leigh's disease can occur in either adolescents or adults. The disease may be caused by mutations in mitochondrial DNA, or by deficiencies of an enzyme referred to as, 'Pyruvate dehydrogenase.' The symptoms of the disease usually progress at a rapid rate, with the earliest signs potentially being poor sucking ability and a loss of motor skills and head control. The symptoms can also include vomiting, loss of appetite, continuous crying, irritability, and seizure activity. As the disease progresses, the symptoms may include lack of muscle tone, generalized weakness, as well as episodes of lactic acidosis. Lactic acidosis may lead to impairment of the person's kidney and respiratory functioning.

Genetic mutations in the person's mitochondrial DNA associated with Leigh's disease interfere with their energy sources that run cells in areas of their brain and play a role in their motor movements. The main function of mitochondria is the conversion of energy contained in glucose and fatty acids into a substance known as, 'Adenosine triphosphate,' or ATP. The energy within ATP drives the metabolic functioning of cells. Genetic mutations in mitochondrial DNA result in a chronic lack of energy in crucial cells, affecting the person's nervous system and causing a progressive degeneration of their motor functioning.

Citation: Disabled World News (2010-02-16) - Leighs disease is a form of rare inherited neurometabolic disorder that affects a persons central nervous system: http://www.disabled-world.com/disability/types/leighs-disease.php#ixzz27LR89Ew9

Frequently Asked Questions

What is Mitochondrial Disease? How does Mitochondrial Disease affect the body? What symptoms could an undiagnosed individual exhibit? What is the prognosis for these individuals? When is someone with Mitochondrial Disease at the highest risk? How many individuals are affected? Can adults have Mitochondrial Disease? What is the United Mitochondrial Disease Foundation (UMDF)? How does UMDF support research to find a cure? How can I reach UMDF for more information? What is Mitochondrial Disease? Mitochondria exist in nearly every cell of the human body, producing 90 percent of the energy the body needs to function.  In a person with mitochondrial disease, the mitochondria are failing and cannot convert food and oxygen into life-sustaining energy.  For many, mitochondrial disease is an inherited genetic condition, while for others the body's mitochondria can be affected by other environmental factors. How does Mitochondrial Disease affect the body? The parts of the body that need the most energy, such as the heart, brain, muscles and lungs, are the most affected by mitochondrial disease.  The affected individual may have strokes, seizures, gastro-intestinal problems, (reflux, sever vomiting, constipation, diarrhea), swallowing difficulties, failure to thrive, blindness, deafness, heart and kidney problems, muscle failure, heat/cold intolerance, diabetes, lactic acidosis, immune system problems and liver disease. What symptoms could an undiagnosed individual exhibit? The child or adult may have seizures, severe vomiting, failure to thrive, heat/cold intolerance, poor muscle tone, delayed achievement of milestones, sever diarrhea/constipation, feeding problems, unable to fight typical childhood infections or repeated infections and fevers without a known origin.  A "red flag" for mitochondrial disease is when a child or adult has more than three organ systems with problems or when a "typical" disease exhibits atypical qualities. What is the prognosis for these individuals? As more research dollars are raised to find more effective treatments and ultimately a cure, some of the affected children and adults are living fairly normal lives with mitochondrial disease.  At the opposite end of the spectrum, many are severely affected, and some children do not survive their teenage years. When is someone with Mitochondrial Disease at the highest risk? The child or adult is at highest risk for neurological and organ damage during and for the two weeks following an illness.  Therefore even a simple flu or cold virus can have devastating effects on the patient, even death.  Any illness must be treated immediately with medical interventions, like IV fluids and IV antibiotics. How many individuals are affected? Every 30 minutes, a child is born who will develop a mitochondrial disease by age 10.  Each year, 1,000 to 4,000 children in the United states are born with a mitochondrial disease.   While exact numbers of children and adults suffering from mitochondrial disease are hard to determine because so many people who suffer from mitochondrial disease are frequently misdiagnosed, we now know the disease is approaching the frequency of childhood cancers.  Many are misdiagnosed with atypical cerebral palsy, various seizure disorders, childhood diseases and diseases of aging.  Still others aren't diagnosed until after death. Can adults have Mitochondrial Disease? Yes, many adults are diagnosed with adult-onset mitochondrial disease.  Some of these individuals have been ill their whole lives but went undiagnosed.  Others have carried the genetic mutation that causes mitochondrial disease since birth but did not show any symptoms until a severe illness brought them on.  Adult mitochondrial patients are affected in a similar manner to the children who are affected. What is the United Mitochondrial Disease Foundation (UMDF)? The UMDF was created in 1996 by parents of affected children.  The UMDF exists to promote research and education for the diagnosis, treatment and cure of mitochondrial disorders and to provide support to affected individuals and families.  The national headquarters of the UMDF is in Pittsburgh, and there are Chapters and Mito GroupsSMacross the United States. How does UMDF support research to find a cure? Since it's begining, the UMDF has funded more than $10 million dollars in research towards a cure. The UMDF is one of the leading contributors of grants to mitochondrial disease researchers and is considered the premier foundation for mitochondrial disease by the world medical community.  The UMDF's scientific and medical advisory board is composed of mitochondrial disease experts from around the world, and these experts approve which research grants receive funding. How can I reach UMDF for more information? To speak to someone at the National Office you can call 1-888-317-UMDF (8633) or emailinfo@umdf.org.  To find your local Chapter, Mito GroupSM or Ambassador click hereto go to our map of events and activities. इस आलेख को जल्दी ही हिंदी में भी पारिभाषिक शब्दावली के साथ प्रस्तुत किया जाएगा ,धैर्य एवं आपका सहयोग अपेक्षित रहेगा .