Mitochondrial Disease Awareness Week
This was my initial reaction when my son was first diagnosed. Now almost thirteen years later this rapidly evolving field of medicine is starting to make significant strides towards improving the quality and quantity of patients lives who suffer from Mitochondrial Disease.
- What is mitochondria and what is mitochondria disease? The answer is simple. Mitochondria are the power house of the cell which create the fuel to run the cells and the body. This fuel is called Adenosine TriPhospohate (ATP).
- What is the mechanism which makes ATP? The mitochondria through Glycosis (Glucose should be ringing a bell here) also known as Oxidation Phosphorylation through five different stages in the electron transport chain creating ATP.
- So then what is Mitochondria Disease? It is an in born error in metabolism or a deletion in one of the stages between the mitochondria synthesizing glucose into ATP.
- How prevalent is Mitochondria Cytopathy? According to NIH every 30 minutes a child is born who will develop Mitochondria Disease before the age of 10. That is not including disease like ALS which has shown to be age related Mitochondrial Disease.
International Expert Dr. Cohen Explains Mitochondrial Cytopathy
An Animated Explanation of Mitochondrial Disease
Alex the Face of a Child With Mitochondrial Disease
How Did We Find Out My Son, Alex, Had Mitochondrial Disease?
Honestly, we spent a lot of time known as the un diagnosed. This is a horrible plight for any child and their parents as they endure the wrong diagnosis and then often the wrong treatments. We were very lucky to get Alex diagnosed by the age of two. The rule back when Alex was diagnosed was a child who had multi-system problems should be evaluated for Mitochondrial Cytopathy but so little was known about this disease in 2002 that his prognosis was exceptionally poor. The MRI performed in Florida was definitive he had Mitochondria Cytopathy and it was not believed he would live past his second birthday. The diagnosis came six days before his second birthday.
Also back then the typical time for a pediatrician to obtain the correct diagnosis in the case of a rare disorder was six years (N.O.R.D.). With more awareness diagnosis time has dropped significantly.
Listen to Dr. Cohen, an international expert on Mitochondria Cytopathy, explain the challenges and improvements in diagnosing children with Mitochondria Cytopathy over the last couple of decades.
Dr. Cohen on Diagnosing Mitochondrial Diseaae
In Your Experience
Do You Think You Know, Have Known or Might Suffer from a Mitochondrial Cytopathy?
Your Experiences With Mitochondrial Disease
While not all children with autism have mitochondrial cytopathy some of them do. Given that information and the information that certain cancers, diabetes, ALS and Parkinson's are all considered mitochondrial diseases do you think you know are related to some one with mitochondrial disease?
One should suspect Mitochondrial Cytopathy if they have multiple systems involved. For instance if a young adult has eye, heart and kidney problems then mitochondrial cytopathy should be considered.
The multiple systems being effected is a good gauge to be screened for mitochondrial cytopathy but also it also makes it difficult for the average person or physician, not aware of the disease, to identify it. The person with this disease is constantly complaining but without proper awareness by the physician and the public they would seem like they are just a malinger when in fact they are truly ill. Extreme fatigue, muscle weakness, heat and cold intolerance, inability to gain weight, high and low blood sugars, migraines and may other symptoms of mitochondrial disease are hallmarks but without the proper awareness by both physicians and the general public these individuals can be missed, neglected and even isolated in society.
The silent unawareness is deadly for the person with mitochondrial cytopathy.
How to Recognize and Help Individuals with Mitochondrial Cytopathy
When to suspect Mitochondrial Cytopathy...
- Three systems effected in the body Mitochondrial Disease should be suspected.
- Extreme fatigue, unexplained illness and a constellation of symptoms which are multi-systemic.
How to Help Individuals with Mitochondrial Cytopathy?
- Encourage Your Representatives to Know this Disease
- Give These Individuals Acceptance and Understanding
Why Increase Awareness About Mitochondrial Cytopathy?
- Mitochondrial Research and cures will not only help people with the specific in born errors in metabolism but are the next step in medical research towards curing may illnesses including cancers, ALS, Parkinson's and yes, even some forms of Autism
- Within you lies the ability to make the next Scientific evolution by simply being aware of the disease, encouraging your representatives to educate themselves on the disease, and just be supportive to individuals who suffer from this disease.
The Biochemistry of Mitochondrial Disease
There has been a lot of controversy in the Science of Mitochondrial Cytopathy. At first in 2002 it was believed that lactic acidosis was considered a compensatory mechanism for the in born errors in metabolism. The Science has progressed in that it is agreed that lactic acidosis is a compensatory mechanism for in born errors in metabolism however the compensatory mechanism does do a great deal of damage to the body. For instance new research has emerged that prolonged lactic acidosis causes renal tubular acidosis in the loop of Henley in the kidneys. While lactic acidosis is a compensatory mechanism to create energy in the absents of ATP it also does damage to the body.
Treatment today is pushed more towards prevention to avoid of dealing with, often deadly, acute illness in a patient with mitochondrial cytopathy.
Right now there is no cure. We are unable to cross the intracellular and extracellular membranes of the cells to perform cellular repair without destroying the cell. But not all is lost. The push now is to increase the probability of healthy cells reproducing mitochondria to replicate with a push to limit free radicals which are toxic to the cells. Most physicians and patients work from a preventative care model. This is working and these individuals, if diagnosed early enough and with the support of their communities, are not only surviving but also are thriving in our communities.
Symptoms and Age on Onset Prevalance
In Dr. John Shoffer's Words
As a parent of a child with Mitochondrial Cytopathy who has held us hostage in this world of biochemistry for the last decade and a half, I do consider myself an expert in my child. It is a hard tough road for all parents with children with this disease. The complexity of it makes it difficult for the average person to understand and therefore it is very isolating for the child and the family and even more difficult to access assistance.
I have reason for optimism because I know the potential that this research represents not for one of us but for all of us for medical break throughs to cure many diseases.
Even though I have been accused of "crying wolf" on-line about this disease many many other people have educated themselves and have been exceptionally supportive to us. This week is Mitochondria Awareness Week and today we have just returned from the hospital. My son received his first treatment of IVIG to help his immune system and decrease his symptoms of autism. The results were fantastic. All the people who educated themselves and helped us on this journey to get Alex treatment had to step compassionately into the world of Mitochondrial Disease. So I am encouraged this week of Mitochondrial Awareness because the world is filled with so many kind good people who took the time to help us. Those people mean the world to me and in return I wanted to let them know that by supporting this humanitarian cause of Mitochondrial Awareness Week they are supporting all humanity including their loved ones as well.
There is still more work to be done for Mitochondrial Disease Awareness. You have the power to bring this new advancing Science to the forefront of technolog just by increasing public awareness. When we succeed in advancing public awareness of Mitochondrial Cytopathy we will advance the Science to repair the energy sources of our bodies and limit the cytokines or cellular toxins to extend not only my son's life but everyone's life.