Mitoblog

As I have posted before, many mitochondrial patients suffer from seizures daily. Epilepsy is finally getting some much-needed publicity in the April 20th edition of Newsweek. You can read the articles on their website which I have linked below.

My daughter has suffered from seizures since she was 4 weeks old. The longest she has ever gone without a seizure is 35 days. At this point, she is having between five (5) and eight (8) per day. While that seems like alot, there were times she had 20 to 50 seizures a day, and there are plenty of other epileptics who, despite using multiple medications, have even more seizures every day.

Hopefully, Newsweek has brought an issue to the forefront that is long overdue. Some of the startling facts that these articles mention:

• Epilepsy is as common as breast cancer and takes as many lives.
• Public and private funding for research lag far behind other neurological afflictions, at $35 a patient (compared, for instance, with $129 for Alzheimer’s and $280 for multiple sclerosis).
• The mortality rate for people with epilepsy is two to three times higher—and the risk of sudden death is 24 times greater—than that of the general population.

Click on these links to read more and pass this information on to everyone you know – since one in ten people will suffer a seizure in their lifetime.

A Storm in the Brain

In the Grip of the Unknown

Agony, Hope & Resolve

Well, its been said before that there is a link between mitochondrial damage and many diseases, but for the first time scientists have proven that damage to parts of the mitochondria will lead to Alzheimer’s! You can read the article HERE.

This is good news for the mito community! Alzheimers is another “hot disease” out there – like autism and breast cancer. Hopefully this new scientific evidence will lead to more research and research dollars being put toward research into mitochondrial disease.

Today the FDA posted on its website that treatment with the epilepsy drug Zonegran (generic is zonisamide) can cause metabolic acidosis. Zonegran’s label is supposed to be updated with this new warning and recommends that patients have certain blood tests before starting treatment and periodically during treatment to check for acidosis.

This new warning is especially important to the mitochondrial community since metabolic acidosis is something that must be avoided, and a medication that could increase the odds of that condition needs to be watched closely. If you or someone you know has mitochondrial dysfunction or disease and is taking zonegran for epilepsy, have them discuss this new finding with their doctor.

You can read the FDA’s article here.

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.

The United Mitochondrial Disease Foundation (UMDF) has changed and enhanced its membership options effective this month (January, 2009) in order to attract more people to its membership. Prior to this change, it cost fifty dollars ($50.00) to join the UMDF. Now, there are multiple membership options.

Everyone can join now under the HOPE membership option, which is free and allows members to have free general membership in the UMDF. EVERYONE should join the UMDF with this membership alone! Its FREE!

In addition, they have renamed their regular membership to the ENERGY membership, and it stil costs $50 per family per year. The main benefits you would get with an ENERGY membership include the newsletter (electronic or via mail), the ability to ask questions to a Mito Doctor on the “Ask the Mito Doc” portion of the website, discounts on merchandise and supplements, and even a VOTE at the annual symposium.

In any event, everyone who has any interest in mitochondrial disease or who has been touched by a child or adult with mito should join the UMDF. The larger our membership, the more “noise” we can make to get funding for research and to let the world know that mitochondrial disease deserves the attention it so lacks at this time.

To join or renew your membership in the UMDF, click HERE.

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.

The Vaccine Research Center at Boston University Medical Center through the Department of Pediatrics and Section of Pediatric Infectious Disease has started a pilot study to better understand the safety and efficacy of vaccines in patients who have mitochondrial disorders.

This study could prove to be very important. Recently, a high profile vaccine case was in the news. Hannah Poling’s case was one of the first where the federal government admitted that her autism was more than likely caused by vaccinations she received as a toddler. The spin on the case, however, was that the government and the doctors determined that due to an unknown mitochondrial dysfunction that Hannah had, the stress from multiple vaccinations at the same time “overrode” her system, more or less, and “triggered” the autistic tendencies from a neurological standpoint.

Ever since that case, anti-vaccine advocates have pointed to it indicating that vaccines CAN cause autism. Most doctors and the CDC take a step back from there and state that this was an isolated case and that most children do not have mitochondrial dysfunctions that could result in the same situation.

Nonetheless, due to this case, and the stress that vaccinations can cause the body as it attempts to fight off the disease-invaders, the relationship between mitochondrial disease (or even just dysfunction) and vaccinations (especially in children) is an area that needs more study and research. To that end, this study appears to start to address some of those issues. If you, or someone you know, has a child with mitochondrial disease, encourage them to contact the Vaccine Research Center at Boston University Medical Center. The only way to determine whether autism, or any other neurological or biological problem, is more likely to result with vaccinations in mito children, is research such as this.

The actual time and effort that anyone has to put into this study is minimal, at best. The information on the study states:

We want to look at the vaccine histories and medical records of patients with mitochondrial disorders to better understand the relationship between infections, vaccines and mitochondrial disease. If you would like to participate in this study, we will talk with you over the telephone and ask you some questions about your child’s visits to the doctor and vaccine records. Then, if you agree to participate, we will send you a form to sign asking for permission to look at your child’s medical record and vaccine history.

Contact information for the study is:

Marissa Black
Boston University Medical Center
The Vaccine Research Center
Department of Pediatrics; Section of Pediatric Infectious Disease
Boston, MA 02118
617-414-7423
marissab (‘at’) bu (‘dot’) edu

You can also get more information here at Mitoaction.org .

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 . . .