Foundation for Mitochondrial Medicine


Foundation for Mitochondrial Medicine

Day 11 – Meet The Polatty Family

Each face is one story or one facet of mitochondrial disease.

It’s a complex, underdiagnosed disease that may appear anytime—at birth, in the teen years or, as an adult. To help you understand, here is a story of one family chasing cures.

Brandi with husband, Chad and their two boys, Jonah and Noah.

Brandi with husband, Chad and their two boys, Jonah and Noah.

For the Polatty Family and many like it, things from the outside may seem perfectly fine and normal, but in reality, the day-to-day means daunting medications, extreme medical expenses, fatigue for the whole family, feeding tubes, ports, and CPAP’s, all of which are required to manage the entire family’s mitochondrial disease.

Their first child, Noah, was born in 2005, seemingly healthy. In 2006, after a year of constant infections, diagnosis of sleep apnea, and surgery to take out his adenoids, Noah needed to have another surgery called a Nissen Fundoplication and a feeding tube inserted to keep him from aspirating his reflux into his lungs. Within two weeks of that surgery, Brandi and her husband learned they were expecting Jonah.

Noah was diagnosed with gastrointestinal dysmotility, and despite the previous surgery, his sleep apnea persisted. He also had developmental delays, and Brandi and husband, Chad were positive that there had to be something more to these symptoms.

Soon after, they realized that Jonah was following in his brother’s footsteps. Within six months, Jonah was also diagnosed with the same motility issues as Noah. Jonah also had sleep apnea and periodic limb movement disorder along with frequent wheezing and infections. He had numerous hospitalizations and by one year of age had already needed over twenty antibiotics. At last, a trip to see a new doctor for the boys led to a referral to see Dr. John Shoffner and the investigation into a genetic condition called Mitochondrial Disease set full sail.

Brotherly Love with the Polatty Boys.

Brotherly Love with the Polatty Boys.

Muscle biopsies and genetic testing first for Noah, then for Jonah and later for mother and father, Brandi and Chad. Diagnoses of mitochondrial disease became the explanations for chronic lifelong symptoms that never seemed to have a single point of origin. Throughout Brandi’s life, she has suffered from fatigue, overheating, frequent dehydration and infections. During her freshman year of college, she was forced to take a medical leave for symptoms, now known to be related to mitochondrial disease. Chad has had a ten year history of fatigue, pain, and GI symptoms all of which stem from mitochondrial disease.

Brandi has channeled her energies into writing and in 2012 published her first novel. Your support of her work helps raise awareness for mitochondrial disease and fuel hopes for treatments and eventual cures.


Get Your Glow On: Share the Polatty Family’s Story and Help Us Raise Awareness for so Many Fighting Mitochondrial Disease.

Hope Flies for the Holidays – Day 10


Hope Flies this Holiday Season…because of you!.

Hope can fly. Hope can heal. Please continue to share stories, fuel connections and help fund treatments. From all of us at FMM, we wish you a warm and happy holiday season.


Day 9: Colby Wren – One of the MANY Faces of Mitochondrial Disease

Mitochondrial disease is a complex, underdiagnosed disease that may appear anytime – at birth, in the teen years or, as an adult. The disease can attack at any age and has links to other more familiar disorders: Autism, Parkinson’s, Alzheimer’s, Lou Gehrig’s disease (ALS), muscular dystrophy. We’re learning it’s not at all rare. But, due to a lack of physician and public awareness, mitochondrial disease is not often diagnosed.

Colby Wren {One Face, One Story}

Some of you may already know Colby from Hope Flies Home Run Challenge, Hope Flies with the Braves or even the special featured on CNN.

From the outside, you would never know that Colby has mitochondrial disease. When he practiced and played football games, he would get sick during and after each. Now that he’s been diagnosed, he knows mitochondrial disease is just something in his life he has had to learn to manage on a daily basis.

Colby and Fans at Hope Flies Home Run Challenge

Colby and Fans at Hope Flies Home Run Challenge

Physically, Colby was never in better shape than when he first started sports training. My body took the initial training really well, but after the first year it really took a toll. I began getting many of symptoms of mitochondrial disease, which I had neglected noticing.

Needless to say, when the season ended and he had the opportunity to rest, he did so freely. Checkups and blood work during the times of high activity had very negative numbers when it came to my mito metrics, but Colby noticed that other areas my body was thriving because he was in great shape. The same cycle occurred his second year playing baseball at Georgia Tech: get in great shape, hit a wall, and that year his grades hit an all-time low. Georgia Tech is challenging enough when you are just a student there, but when you are a student with incredible mental and physical fatigue, those calculus classes and science classes can be ruthless. Falling just under a 3.0 my freshman year, my sophomore year was very lackluster and I struggled to recall almost anything that I studied for. This is when I knew a change needed to occur.

Katie, Colby and Friends enjoyed the afternoon at Turner Field for Hope Flies with the Braves.

Katie, Colby and Friends enjoyed the afternoon at Turner Field for Hope Flies with the Braves.

While Colby was passionate baseball, meeting with his doctor during his last semester playing gave him some incredible insight and pause. Colby’s body, though in shape, was not as healthy as he needed it to be. But when you’re given options to continue playing a few years versus being able to be healthy and active for your future generations it is a very simple decision. Colby immediately gave his body lots of rest and neglected his health, which was the most important in the long run.

Colby is currently an Ambassador for the Foundation for Mitochondrial Medicine and sharing his story to help us raise awareness and fuel connections.  Colby is an active part of our Hope Flies events in the Atlanta area.

Colby has been an inspiration to many others affected by mitochondrial disease and even called a “hero” by one mito mom!


Day 8: What is your firefly number?

What is your firefly number

As the Foundation for Mitochondrial Medicine introduces you to the many faces of mitochondrial disease, we would like to tell you about connections with related diseases and why it is so important for us to focus on the common thread in all of us… Mitochondria!

Your Firefly Number shows your personal connections to all of the related diseases and mitochondrial disease. How many people do you know with these diseases?  Autism, Alzheimer’s, Parkinson’s, Mitochondrial Disease, Diabetes, Lou Gehrig’s (ALS), Chronic Fatigue, Diabetes, Fibromyalgia, Cerebral Palsy?

Calculate your total connections (Firefly Number) to the
related diseases shown below.

Web of Connectivity


How is Mitochondrial Disease Connected to Other Diseases?

Mitochondrial disease can look like any number of better known diseases, including: AutismParkinson’s diseaseAlzheimer’s diseaseLou Gehrig’s diseasemuscular dystrophy and chronic fatigue, among others. Adults and children with it can have features similar to other disorders like: Epilepsy, Myopathy, Developmental Delay, learning disabilities and Fibromyalgia.

Research shows that mitochondrial dysfunction is often a central element of these more commonly recognized diseases. Studies and reports indicate the “orange” ones are more influenced. A cure for mitochondrial disease could impact cures for Autism, Parkinson’s, Alzheimer’s and Muscular Dystrophy.  Learn More…

The Foundation for Mitochondrial Medicine works hard to raise awareness about the connections between mitochondrial dysfunction and other related diseases!

Share this post and tell your friends to find their Firefly Number!
#hopeflies and #fireflynumber

Day 5: Other Ways to Give & Support FMM This Holiday Season

There are other ways to support the Foundation for Mitochondrial Medicine and give back to help us run the cures!

{Matching Gifts}
matching-giftsMany corporations have programs to match employee contributions to charitable organizations.  Your dollars can go farther with a corporation’s support.  Please contact your Human Resources department to learn more about these possibilities.

Learn More about Matching Gifts

{Stock Gifts}
StockMarket_Chris_L_688x380_acf_croppedMake a stock gift to the Foundation for Mitochondrial Medicine and make a difference.   To make a stock donation, please contact us at  FMM will provide important next steps to finalized your contribution.

{Amazon Smile}
AmazonSmile is a website operated by Amazon that lets customers enjoy the same wide selection of products, low prices, and convenient shopping features as on The difference is that when customers shop on AmazonSmile (, the AmazonSmile Foundation will donate 0.5% of the price of eligible purchases to the charitable organizations selected by customers.

Select the Foundation for Mitochondrial Medicine as your Amazon Smile Charity and support while you shop!  

goodshop-logo-333-75Goodshop is an online shopping mall that donates a percent of your purchase price to your cause when you shop at one of 3,000+ partner stores including top retailers like Amazon (1.5% donation), Expedia (up to 5% donation), and Staples (2.5% donation). You can also find 25,000+ active discounts and money-saving coupons so you can save money and give back at the same time!

Learn More about GoodShop!

GoodSearch_previewGoodsearch is a simple way to make a difference — each time you search the web (though Yahoo!-powered Goodsearch), shop online (at the 2,800+ stores on Goodshop), we’ll make a donation to your favorite cause. We know you have limited time and money and we’ve created our products to make giving back easy.

Learn More about GoodSearch!


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Day 3 – Every Story is Unique

The mitochondria represent the most complicated enzyme system in the body, requiring over 1,000 genes to function properly.  With so many genes, patients can present in hundreds of ways.

Mitochondrial disease can appear at any age. For some it appears at birth. For others it develops over time.

Using the “power plant analogy,” since the mitochondria are the body’s power plants, the impacts of mitochondrial disease can range from mild to fatal, from a “brown out” to a “black out.”

faces-of-mitochondrial-disease-10-2014-2–      Some types are progressive and result in significant neurologic deterioration

–      Many result in a lifetime of challenges that vary across the lifespan

–      All have impacts that are difficult to measure for families and caregivers

Mitochondrial disease primarily impacts brain and muscle, but can affect many other systems like heart, liver, kidneys, and gut…

Results often are may be: fatigue, muscle weakness and loss, vision/hearing loss, pain, social/behavior disorders, migraine, seizures, respiratory disorders, learning disabilities, poor growth, thyroid problems, gastrointestinal disorders, diabetes, neurological problems, dementia

All this is overlaid by good and bad days caused by significant inconsistency-like the electricity flickering in different areas of a community

If you have seen a person with Parkinson’s disease, Huntington’s disease, Alzheimer’s disease, or ALS, you have encountered mitochondrial dysfunction.  If you have met a child with autism, Asperger’s syndrome, or epilepsy, mitochondrial dysfunction may already be affecting their developing brains.


Get Your Glow On: Share this information with your network of friends and family to help us raise awareness for mitochondrial disease.


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20 Days of Glow – Day 19 – What’s Next in Mitochondrial Research?

Interested in what’s next in mitochondria research?

radiomd-logo-hpThe same week that the Foundation for Mitochondrial Medicine announced its plans and support for the Mitochondrial Medicine Clinic at the University of Alabama, Dr. Victor Darley-Usmar was a guest on the Ask Dr. Darria radio program that airs on and on

victor_darley_usmar_sDr. Darley-Usmar gave a brief overview of mitochondrial function and mitochondrial disease and the medical community’s newest understanding of mitochondria function through bioenergetic health. Bioenergetics is a relatively newer area of medical research and studies the biological function of fuel supply and how the body uses its fuel supply. He also discussed that the medical community has moved from a narrow understanding of mitochondrial disease as a stand-alone disease, to an understanding that many diseases including diabetes, Alzheimer’s and Parkinson’s diseases are all rooted in mitochondrial malfunction.

The Bioenergetic Health Index, or BHI, is a new diagnostic test that tests how a patient’s mitochondria react to stress and to different medications. Dr. Darley-Usmar believes that with further use and testing of BHI, that it will soon be a part of normal diagnostic testing and screening for disease management. Click here to read the full article from UAB’s website.

Listen to Dr. Darria interview Dr. Victor Darley-Usmar of the University of Alabama


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20 Days of Glow – Day 17: Autism and Mitochondrial Disease

Many genes are contributors to autism, but are not the cause.  Over 800 genes are contributors.  It’s a whole body condition.  In many autism cases it is a whole-body condition, where more than one system is affected and this is consistent with mitochondrial issues.  There is evidence for environmental impacts. Visible and social behavior represent symptoms of underlying systemic disturbances, including metabolism.

In 2012, The Foundation for Mitochondrial Medicine hosted a Hope Flies Health Series and featured Dr. Martha Herbert from Harvard University & Massachusetts General Hospital in Boston to speak on the link between Autism and Mitochondrial Disease.

Share this information and comment on this post.  Everyone who shares and comments will be entered in a drawing for the book, The Autism Revolution by Dr. Martha Herbert

Overview of the Autism Connection to Mitochondrial Dysfunction:
autism-disease-webMitochondrial disease and dysfunction are more common in ASD (Autism Spectrum Disorder) patients than the general population.  (~7%)

Mitochondria are exceedingly environmentally vulnerable to many things.

Inflammation and oxidative stress often go with mitochondrial dysfunction which is common with autism.  Brain function and synapses need energy.  Less energy  leads to weaker signals.  Weaker signals lead to weaker, smaller brain networks.  Mito dysfunction leads to excitoxicity , noisier, more inefficient synapses.  The result of inefficient, wasteful, poorly focused synapses means showing up as good and bad days, just like the flickering of electricity or a power plant.

In some mitochondrial disease patients autism symptoms show up on rougher days but not on calm/easy days. These folks may be balanced on a razor edge of mitochondrial dysfunction.  This suggests that mitochondrial problems may contribute to how the brain “creates” autistic behaviors.

Treatments on the Horizon:
Modest changes can have large functional effects.

Propranolol, a beta blocker drug has shown in brain connectivity studies that this is a changeable “state” not a fixed “trait.”  This isn’t necessarily a cure for autism but shows that the brain can improve and improve fast.  New drug possibilities in the pipeline are exciting and in the meantime, little things can make a big difference.  Optimize nutrition and minimize toxins.

Whole-Body Brain Imaging looks at the impacts of diet and metabolic treatments by measuring brain function and metabolites to see if they are related. Brain imaging that looks at mitochondria measure bioenergetics (the study of transformation of energy in living organisms), oxidative stress (caused by an imbalance between the production of reactive oxygen and a biological system’s ability to readily detoxify the reactive intermediates or easily repair the resulting damage) and brain function.

“Wild-type microglia arrest pathology in a mouse model of Rhett syndrome”  Derecki et al, Nature, 2012, an interesting study that highlights reversible change and indicates promise for related areas.  Every stressor that you can take out of the system can help the body get better.

Hope for Families/Future:
Greater sense of connectivity in science.  Recipe for Improvement: Research shows that excellent foods, high in nutrients with minimal allergens and minimal toxic and infectious burdens brings drastic changes to body function. Looking at the core, the mitochondria open an exciting new world of possibilities.


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20 Days of Glow – Day 15: Did You Know Mitochondrial Disease and ALS Are Related?

Web of Connectivity - ALSMitochondrial disease can look like any number of better known diseases, including: AutismParkinson’s diseaseAlzheimer’s diseaseLou Gehrig’s disease (ALS), muscular dystrophy and chronic fatigue, among others. Adults and children with it can have features similar to other disorders like: Epilepsy, Myopathy, Developmental Delay, learning disabilities and Fibromyalgia.

Research shows that mitochondrial dysfunction is often a central element of these more commonly recognized diseases. Studies and reports indicate the “orange” ones are more influenced. A cure for mitochondrial disease could impact cures for Autism, Parkinson’s, Alzheimer’s and Muscular Dystrophy.

What is the role of the Mitochondria in ALS?

In ALS, evidence is building that actions on or originating in the mitochondria may be an important part of the disease. Changes in the mitochondria can be detected before one can find a physical change such as hind limb weakness in mice.

A role for mitochondria in ALS may explain why SOD1 mutant proteins selectively damage the motor neurons. Some recent studies suggest that mutant SOD1 protein builds up in the mitochondria, unlike normal SOD1 protein which is present throughout the cell but may not be in the mitochondria in healthy cells. This possible shift of mutant SOD1 into the mitochondria may be occurring in motor neurons and not in the liver and kidneys, some evidence suggests.

Mitochondria, as stated earlier, are also involved in the process called apoptosis, a deliberate removal of cells. Some investigators have found that mutant SOD1 attaches to key proteins involved in the cell death process further implicating mitochondria and apoptosis in ALS.

Frank physical damage to the mitochondria is evident in mice with some of the known SOD1 mutations. First, the organelles swell, then they develop empty spaces. Normal mitochondria consist of tightly folded membranes that provide a platform for the metabolic reactions that generate cellular fuel. After the empty spaces appear, the inner membranes of the mitochondria break apart.

The empty spaces appear in mitochondria early in the disease process in the mice. Other researchers have determined that a very early change in mice with mutant SOD1 is a slowing of mitochondrial reactions that provide energy to the cell.

ALS Association–funded researchers are working on all of the intriguing possibilities for a critical role of the mitochondria in ALS. It should be noted that these cellular fueling pumps are also implicated in such neurodegenerative diseases as Parkinson’s and Alzheimer’s.

Information about ALS and Mitochondrial Disease provided by The ALS Association and

What is ALS?

Amyotrophic lateral sclerosis (a-mi-oh-TROH-fik LAT-ur-ul skluh-ROH-sis), or ALS, is a serious neurological disease that causes muscle weakness, disability and eventually death. ALS is often called Lou Gehrig’s disease, after the famous baseball player who was diagnosed with it in 1939. In the U.S., ALS and motor neuron disease (MND) are sometimes used interchangeably.

ALS often begins with muscle twitching and weakness in an arm or leg, or with slurring of speech. Eventually, ALS affects your ability to control the muscles needed to move, speak, eat and breathe.


Worldwide, ALS occurs in 1 to 3 people per 100,000. In the vast majority of cases — 90 to 95 percent — doctors don’t yet know why ALS occurs. About 5 to 10 percent of ALS cases are inherited. (Mayo Clinic –

ALS is a disorder that affects the function of nerves and muscles. Based on U.S. population studies, a little over 5,600 people in the U.S. are diagnosed with ALS each year. (That’s 15 new cases a day.) It is estimated that as many as 30,000 Americans have the disease at any given time.  According to the ALS CARE Database, 60% of the people with ALS in the Database are men and 93% of patients in the Database are Caucasian. (Information provided by The ALS Association Georgia Chapter –


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and the MANY Related Diseases!


20 Days of Glow – Day 14: Help Us Light the Tree of Hope this Holiday Season!

Make a donation in honor or memory of someone to help us light our
Tree of Hope this holiday season

Because this year’s supporters, we have been able to partner with some of the brightest minds and most respected collaborative health non-profits, like the Alzheimer’s Drug Discovery Foundation and the Michael J. Fox Foundation. We are the only mitochondrial focused organization to engage in these types of joint venture treatment-oriented projects for many who suffer from mitochondrial disease, Alzheimer’s, Parkinson’s and others. These projects are focusing on the mitochondria, the cells’ energy factories, and the common denominator among the related diseases.

Web of Connectivity

The area of mitochondrial medicine is still relatively new and the discoveries of most mitochondria diseases have occurred within the last 30 years. The mitochondrial component is attributable to the causes of so many diseases and conditions; therefore, effectively treating mitochondrial dysfunction has the potential to impact the quality of life for many.

Your gift will help shine the light on new, effective drug discovery, patient diagnoses, awareness for mitochondrial disease and partnerships with related disease groups.

Any donation will allow FMM to grow and expand on national and international fronts: 1) raising awareness, 2) fueling connections to related diseases, and 3) funding the cures.

Donations made in honor or memory of a loved one will be added to our Tree of Hope and recognized year long on our website.

Donate Today and Light Our Tree of Hope!


The Tree of Hope will be Live at by December 31, 2015!


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