Mitoblog

On occasion, I will post about events to support mitochondrial disease awareness and fundraising around the country. There are many events every year, and you can also find them listed on my mitoblog calendar. Take a step toward the cure for mitochondrial disease by coming out to these family-friendly events. You will have fun and will more than likely learn something too!

On October 17, 2009, the Second Annual All Aboard for a Cure – One Mile Walk and Family Fun Day will take place in Thrasher Park in Downtown Historic Norcross, Georgia. Last year’s event was in March, but due to renovations of Thrasher Park from February to May of this year, the event’s date was moved to October.

The event’s Steering Committee (including Yours Truly) indicated that last year was amazing for a first-time event! While only 150 to 200 people were expected, well over 500 people attended the event and over $50,000 was raised for the United Mitochondrial Disease Foundation for research toward a cure.

This year’s event will incorporate all the best from last year, as well as some new additions. Expect musical entertainment, balloons, tons of children’s games with prizes, face painting, canine assistance dogs, hair coloring and braiding, and food – all of which is INCLUDED in the registration price – as well as a t-shirt. One of the highlights last year was the raffle of baskets. The raffle tickets are $1 each or 6 for $5. You can place the ticket in the raffle for a specific basket that you want to win and winners must be present at the time of the drawing.

The One Mile Walk itself is through the town of Norcross and ends at the entrance to Thrasher Park. The route is mostly flat and is paved, so that strollers, wheelchairs and walkers will have no problems.

If you want to register to attend, learn more about the event, volunteer on the day of the event or in helping prior to the event, sponsoring the event, or even just donating money, products or services, please go to the website – www.umdf.org/atlantawalk. You can also contact the steering committee at atlumdfwalk@gmail.com .

We’d love to see you there!

A leading group of doctors and scientists have banded together and sent a letter to President Obama urging him to include mitochondrial medicine and research among his top health priorities. The letter states, in part, that the mitochondria are important in a large variety of medical conditions and research in this area will greatly improve the health and well-being of millions of American citizens.

“Research has revealed that mitochondrial dysfunction is at the core of many common illnesses and chronic conditions such as Alzheimer’s disease, Parkinson’s disease, diabetes, heart disease, obesity, osteoporosis, cancer and even the aging process,” the letter to President Obama states.

The signature list on the letter reads like a whos-who in the mitochondrial world. Almost every leading physician, scientist, and mitochondrial medicine clinic in the United States is represented in some capacity. The UMDF helped to spearhead the letter and garner the support for it.

I have posted the letter in our articles section (here). Its a great letter to get information about mitochondrial disease from and I would urge you to write something similar and send it to your congressmen – both on the state and federal level. Together, we can make a difference.

At the end of December, 2008, the Ohio General Assembly voted unanimously to enact a Mitochondrial Disease Awareness Week. The Third week in September is now known as Mitochondrial Disease Awareness Week in Ohio. The Bill states:

The third week of September is designated as “Mitochondrial Disease Awareness Week” to raise awareness of the existence of mitochondrial disease and its symptoms.

As you may or may not know, mitochondrial disease can affect almost every major organ system in the body. Those organ systems that require the most energy to function are more often affected in many mitochondrial patients – specifically the brain. Mito affects the brain differently in every mito patient, but the problems most often seen include seizures, developmental delay and even brain atrophy.

November is Epilepsy Awareness Month! It is only fitting that I address epilepsy not only because of its connection to mitochondrial disease, but because my daughter has been fighting epilepsy since she was four (4) weeks old (she’s now 3 ½).

Seizures are oftentimes misrepresented in the mainstream public. They are portrayed as instances of falling down, shaking violently, and even foaming at the mouth with eyes rolling into the back of the head. While some seizures may look like this, the majority do not resemble that at all. Many seizures can happen without anyone nearby even knowing they occurred.

Absence seizures are one such type. During an absence seizure, a person will have a brief episode of staring where their awareness and responsiveness are impaired. They start and stop suddenly, and the person is completely alert immediately afterward. (Read more about absence seizures here.) They oftentimes look like someone is daydreaming or “blanking out” and occur without warning.

But absence seizures are only one type of seizure that epileptic experience. Other types include myoclonic, atonic, tonic, clonic, simple partial, complex partial, and generalized seizures. There is a great description of the different types of seizures at Epilepsy.com .

The most important thing for people to realize about seizures is that many people live with epilepsy every day. When you encounter someone having a seizure, stay calm, prevent injury by helping them lay down and away from anything that may hurt them, DO NOT put anything in their mouths and DO NOT try to restrain them if they are thrashing from the seizure. After the seizure, place them on their left side and stay with them until they recover or help arrives.

A wonderful outline of what to do for someone having a seizure can be found here, and a downloadable guide to seizure first aid can be found here.

Seizures are not something to fear, and in mitochondrial disease, they canm unfortunately, be a “normal” part of everyday life. Becoming informed about seizures and epilepsy is the best way to reverse the stigma in modern society about this medical condition. You can find out more information at the following links, and please feel free to post a comment with links to other resources or information about epilepsy!

Links to more epilepsy information:

The Epilepsy Foundation

National Institute of Neurological Disorders and Stroke (part of the National Instiute of Health)

Mayo Clinic Epilepsy Information

The International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE)

Neurology Channel

The Epilepsy Institute

Pediatric Epilepsy Center at University of Chicago

Pediatric Epilepsy Center at Johns Hopkins

Cleveland Clinic Pediatric Epilepsy Program

One of the first supplements that patients with mitochondrial disorders are prescribed is CoQ10, also known as Coenzyme Q10 or ubiquinone. The main reason that CoQ10 is so highly relied upon with mitochondrial dysfunction is that it is such a major player in cell function and the production of ATP – the actual “energy” that the mitochondria make on which our cells run.

As you know, there is no cure or specific treatment for mitochondrial dysfunction, but many clinicians believe that the use of high-dose CoQ10 with their patients may, at the least, slow the degeneration of the mitochondria and stabilize bodily functions in those disorders. While the research to support this hypothesis is not overwhelming, there are more and more research papers which tend to support the use of CoQ10 in mitochondrial disorders.

One such paper states:

. . . that oral administration of coenzyme Q10 increases both brain and brain mitochondrial concentrations. They provide further evidence that coenzyme Q10 can exert neuroprotective effects that might be useful in the treatment of neurodegenerative diseases.

Coenzyme Q10 administration increases brain mitochondrial concentrations and exerts neuroprotective effects. Proc. Natl. Acad. Sci. USA, Vol. 95, pp. 8892–8897, July 1998.

On a more personal level, my daughter has been taking CoQ10 for almost two years now – ever since she was diagnosed with Complex I OXPHOS mitochondrial disorder. While I have not seen major improvements in her condition, I also have seen that, at least in her case, her cognitive and developmental abilities have continued to improve as she has gotten older – even when faced with severe regressions in the face of both illness and progression of her disease. I don’t want to roll the dice to find out if it makes a difference by stopping CoQ10 supplementation.

There is a clinical trial currently underway, however, that will hopefully shed even more light on this subject and is specific to mitochondrial dysfunction. The study was started in 2007 and has an anticipated completion date of May, 2009. There are three main objectives of the multicenter, prospective, randomized, double-blind, placebo controlled crossover trial of oral CoQ10 in children with biochemically proven deficiencies of complex I, III or IV:

1) Proving that supplementation of CoQ10 is safe and more effective in improving outcomes than a placebo.

2) Determining the effectiveness of CoQ10 in improving motor function and quality of life for the population.

3) Determining the safety of CoQ10 supplementation on the target population.

This clinical study is also supported in part by the National Institutes of Health.

My hope for this study? That CoQ10 will FINALLY be accepted as a medically significant treatment for children with mitochondrial disease and its cost will be covered by insurance companies, most of whom currently view CoQ10 as a “supplement” and “experimental” and not supported by peer reviewed literature and research.

So, to answer my question… we will be continuing CoQ10 . . .

This week’s mission is to watch the World Series.

That will make it pretty simple to work Rocco’s story into everyday conversation. It’s not everyday that someone diagnosed with mitochondrial myopathy plays in the WORLD SERIES!!! He hit a three-run home run in Game 3 of the ALCS.

Take a moment to read Rocco Baldelli‘s story.

I know I will be Rooting for Rocco.

With Lisa being otherwise occupied, I have volunteered to be a guest blogger.

A couple of weeks ago Lisa challenged her readers to contact several talk shows. How many of you did this? Did you receive any responses? Make sure to add a comment to keep us posted.

This week’s mission, should you chose to accept it, is to become advocate for Mitochondrial Disease funding.

· If you have two minutes join the UMDF’s Advocacy Action Center .

· If you have five to ten minutes join the UMDF’s Advocacy Action Center and create and send a letter to your elected officials and create and send a letter to the editors of your local newspaper and radio stations.

· If you have longer read a document or two in the Advocacy Toolkit.

This is the EASIEST step I have taken to educate and raise awareness. Please join me.

Thank you for your support,

Ann

Every week I will have an “Energizer” post. Sometimes it will be a challenge for you to do, an event you should not miss, news about mito or mito research or some interesting information that may be helpful to you or someone you know. No matter what it is, the “Energizer” is just a fun way to bring something to the forefront of this Blog – something that I want to give more attention to.

This week, in honor of Mitochondrial Disease Awareness Week, I am asking you to contact a television talk show and tell them that they should feature a story on mitochondrial disease and tell them that it is Awareness Week. You can mention this blog – and that it was started to honor my daughter who has mitochondrial disease – or your own story!

To start you off, I have the contact pages for several television talk shows listed below. Hopefully, with enough of a barrage of emails on mitochondrial disease, one of them will take notice and do a story on it… remember, we need to bring mito to the forefront in the public – that is the first step toward more attention, more funding, more research, and ultimately to a cure!

• The Doctors (new show on CBS – they just had twins on Monday with Prader-Willi Syndrome.. so it might be a great place to get some acknowledgement for mito!)
• Oprah
• Dr. Phil
• The View
• Rachel Ray (read down the list and click on SEND US A STORY ABOUT KIDS)

Thank you! I know that all the kids and adults with mito are sending many many thank yous in your attempts to help ENERGIZE the public about mitochondrial disease!

It is the start of Mitochondrial Disease Awareness Week. What do you have planned to help spread the word about mito? If you need more ideas, the UMDF has a great list to get you started – just go here .

There are hundreds of activities planned around the nation for this week! If you want to find one in your area, you can find a list here . Just click on the state for which you are interested in finding activities. Here in Georgia, Music for Megan takes place this coming Saturday – go to www.musicformegan.org for more information and directions!

Activities to support and raise money (and awareness) for mitochondrial disease take place around the year. I am spearheading the Second Annual All Aboard for a Cure, the Atlanta One Mile Walk and Family Fun Day – on March 28, 2009! If you are going to be in the area, or live in the Southeast, we’d love to see you there! So, even if you are all booked up for this week and weekend, you have many many opportunities throughout the year to support mitochondrial disease. Stay posted to this blog for more info on the Atlanta Mito Walk … and email me or post a comment if you are interested in volunteering, helping to plan the day, participating or sponsoring this event!

Only with a grassroots effort will mitochondrial disease get the recognition it deserves. It can be as simple as just telling someone you meet this week about mitochondrial disease and how it has affected a child (or adult) that you know.

Did you know that September 21-28, 2008 is Mitochondrial Awareness Week? The United Mitochondrial Disease Foundation (UMDF) has been celebrating that week for years. Recently, due to the efforts of parents and advocates, multiple states have also officially endorsed the third week in September as Mitochondrial Awareness Week, including Alabama, California, Georgia, Indiana, Massachusetts, Michigan, New Jersey, Ohio, Pennsylvania, Tennessee, Texas, Washington and Wisconsin.

This is a great chance to get the word out about mito to people who otherwise might not know about the disease; to educate our state and federal congressmen about funding for research as well as medical and therapeutic needs for our children; and to celebrate all the wonder and strength our children show on a daily basis as they fight this disease.

What can you do? Call your congressman; write a letter to the editor; contact your local television stations and newspapers and tell them to do human interest stories on mito during this week. If that seems daunting, how about just carrying information with you about mito and giving it to medical personal or the “stranger” in the waiting room who asks about your child. The possibilities are endless.

You can get lots of information from www.umdf.org and www.mitoaction.org to educate yourself or others about mito.

Take this opportunity to get involved on a local, regional or even national level to get the word out about the devastation of mitochondrial disease. Our goal should be to become a household name – just as autism has become over the past several years. It took years of advocacy efforts and thousands of individuals devoted to making a difference for their children for autism to come to the forefront as it has. We can do the same with mitochondrial disease – but ALL of us need to work together.

Here are some facts to help get you started:

• About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.
• Mitochondrial disease is nearly as common as childhood cancer.
• Recent research results indicate that mitochondrial dysfunction is a large factor in degenerative disorders of aging like diabetes, heart disease, Parkinson’s and Alzheimer’s.

What are you going to do during Mitochondrial Disease Awareness Week? Do you have any ideas on how we can get more publicity for our cause?

Its up to YOU – each of us individually must make the commitment to do everything we can so that mito gets the recognition that it deserves and, hopefully, the research dollars will follow and find a cure.