Awareness

September 18-24 is Mitochondrial Disease Awareness Week. 

The question is, who and why are we attempting to raise awareness of this disease?

This question prompted me to do a little bit of research….why DO we want to raise awareness?  Why does any community attempt to raise awareness of their disease or affliction?  What is the goal?  Why does anyone, other than those dealing with the disease, care that others know more about it?

Some of this, I already had the answers for. 

Raising awareness increases understanding, at least theoretically.  If you see my children and hear they have Mito, how can you possibly understand what that means if the term is new to you?  Or, even if you know what mitochondria are, or I have shared my quick mito tutorial, how does that equate to understanding why today they seem to be doing “well”, but tomorrow they could be having big issues?  In this case, raising awareness has the potential to increase the understanding of what this disease entails on a day to day basis.  Sometimes that means a lot.

However, there is a bigger picture here.

In today’s age of social networking, there is the potential that your awareness of this disease might be passed on to someone else that needs to know more about it.  Whether that’s a family searching for answers for their child’s issues….a medical professional with a complicated patient that they have run out of answers for….or a neighbor questioning whether there is really something “wrong” with the child next door.  Your awareness could lead to someone, somewhere becoming involved with finding answers.  So, awareness plays a real part in the future of the understanding of this disease, finding treatments & cures, and easing the heart ache that comes with it.

I found an article that, while generic to raising awareness of any disease, points out some important points to consider.

The title includes the following:

“More care is the ultimate goal.”

It goes on to say that generally the goals of awareness campaigns are to reduce stigma, get more patients treated, make it more likely that physicians know what they are facing and convince researchers to tackle the unanswered questions.

“If you can help one person have that conversation with their physician – not feel alone, not feel out of control – you’ve really benefited society. “ says Suzanne Goss, senior vice president at Y Brand, a healthcare branding firm in New York.

While mitochondrial disease is still considered by many to be a rare and relatively unknown disease; that is changing quickly.  Each year the estimates of the number of people with mitochondrial disease keep increasing as the medical community learns more about this disease.  Part of the reason for this is that this field of medicine is so new.  It was just 15 years ago that scientists first linked a mutation in mitochondrial genes to a disease.  Today, with over 120 defect-causing mutations identified,  and new research revealing how the defects in the mitochondria trigger a wide variety of medical problems, more and more focus is being placed on the role the mitochondria play in keeping our bodies functioning properly.

Studies now suggest that when you combine the number of people that have defects in the electron transport chain with those patients with other diseases of the mitochondria such as CPT-II, carnitine transporter, MCAD, SCAD, LCHAD/Trifunctional protein deficiency, LCAD, pyruvate dehydrogenase, adenine nucleotide transporter, Freidriech Ataxia, mitochondrial DNA mutations, TCA deficiencies, and glutaric acidurias, the number of people suffering from mitochondrial disease is somewhere in the 1/1000 to 1/2000 range.  This would make mitochondrial disease the most common disorder of metabolism currently known today in the medical field.

Currently, there is no cure for mitochondrial disease and even finding medical treatments is a challenge.  Today, there are no FDA-approved drugs targeted specifically for mitochondrial disease.  Doctors are left with prescribing vitamin cocktails to boost cell function (which may or may not have an impact), along with making suggestions about diet, avoiding stress and extremes in heat or cold,  and providing medicines that can only treat the symptoms but not the underlying cause.

Research is beginning to produce some marginally encouraging results and while a cure is still many years away, doctors are focused on educating others so that the disease will be identified more quickly as well as, finding ways to provide better patient care in addition to identifying new research techniques that will one day assist the medical community in coming up with a cure. 

Patient care needs to be at the heart, and research at the foundation of any center taking care of Mito patients. These centers need to unite the three essential elements of medical progress- diagnosis, treatment, and research. In most medical centers around the world, these three elements are isolated because the individual physicians and scientists are all working toward separate goals. The physicians and scientists need to all be working toward a common goal- to understand and develop more effective treatments for mitochondrial and metabolic disease. This is accomplished through a unified program of patient care. basic science. and clinical research.

When a child is stricken with a catastrophic disease, it can take weeks, months, or even years before the diagnosis of mitochondrial disease is reached. Many children die before the correct diagnosis is made. A second child in the family is sometimes tragically affected before the possibility of a metabolic disease is considered. While most physicians can easily recognize cancer when they see it, very few physicians are yet able to recognize mitochondrial disease. Moreover, very few medical centers are equipped to offer the specialized diagnostic, treatment, and research facilities required for the comprehensive management of children with mitochondrial disease.

The question becomes, why should adults be concerned about Mitochondrial Diseases of children?

The diseases of aging outnumber mitochondrial diseases in children about 5000 to 1. But from a scientific point of view, the chronic diseases of aging are very complex, so complex they are hard to study. They take 20 to 50 years to develop. During that long period of time, every adult has been exposed to many environmental agents that may increase his risk for disease. The task of sorting out the causal factors from the incidental is very complicated, and sometimes impossible. For those doctors that have treated both children and adults over the years, they are struck by the great similarity between some of the childhood disorders of mitochondrial metabolism, and many of the much more common diseases of aging. This clinical similarity suggests a common cause.

Children give us the opportunity to see the causes and consequences of mitochondrial disease with a clarity that is not possible in adults. Because children have not yet lived long lives, the list of factors that must be considered in discovering the precise cause of their disease is much shorter than the list of factors for a similar disease in adults. Clarity in science leads to new insights. For these reasons, many of the freshest new insights into the diseases of aging will come from the study of the young. Moreover, physicians and scientists feel that when effective therapies are developed for children, these therapies will also be shown to be effective in treating similar disorders in adults.

In rare diseases, ultimately awareness is the greatest tool we have to fight with. 

Will you become aware with me this month?  My children, my family thank you for it!!