Mitoblog

On the right side you can now sign up for my RSS feed of MitoBlog! We are gearing up on MitoBlog and want to bring you all the news about mito that is out there! Good news, fundraisers, treatments, therapies, medications and everything else!

Leave a comment and let me know what you want to hear about!

MEDomics has started using a new test called MitoDx to detect any and all mutations in any of the 37 identified mitochondrial genes. You can read more about it here. This is supposed to be a new way to help do early detection of mitochondrial disorders that do not require as invasive of testing (as the usual muscle biopsy). While it does detect mutations, it may not identify all with mitochondrial disease or dysfunction as there may be genes not yet identified that affect the mitochondria.

“To my knowledge, MEDomics is the first laboratory to offer a whole genome clinical diagnostic test utilizing the powerful NextGen sequencing technique” says Steve S Sommer, MD, PhD, Founder and President of MEDomics. (For more on the test itself, go here .)

It looks promising! I’m going to ask our mito doctor about it for our daughter.

Penwest Pharmaceuticals has been working on a new mito drug – A0001 – for the treatment of mitochondrial diseases. The Phase 1b Trial of the drug under FDA guidelines went well and they are moving the drug into the next phases of the trial, as they move forward on orphan drug status and closer to an FDA approved medication for mitochondrial disease! The link will take you to the press release article for more information. It is great that there is some attempts being made to make medications to help mito!

Penwest Announces Results of Phase Ib Trial of A0001

I found a fabulous resource today while I was researching yet another issue regarding mito and my daughter. Mitoaction has a Clinician’s Guide on their website which is a wonderful resource for the patient, caregiver or medical professional. The guide is totally on their site and different sections are easily accessed by clicking on them. You even have an option to print the page/section you are reading as you go along.

For me, I think its a great resource for parents of mito kids. Read the guide and print out sections that deal with issues your child is dealing with and take them to their doctor(s). While the guide is a wonderful resource for primary care physicians, I think that specific sections would be very valuable to take to a specialist’s appointment – if for nothing else than to have a starting point on many difficult topics or to give you ideas for questions to ask.

I urge you to look at it and pass it on – the link, this blog post, or printed pages – to anyone and everyone that comes into contact with your child. There is even a printout for dealing with mito in school! That’s something EVERY mito parent should print, pass out, and hold onto!

In my web browsing, I ran across Marcel’s Way. Its a very interesting idea and organization that’s sole purpose is to support mitochondrial patients and their families in New Hampshire.

Some of the interesting things they do are: family vouchers for $5 when a child/patient has a metabolic or mitochondrial appointment at the hospital or if they are admitted to the hospital; grants ranging from $100 to $1000 to help families pay for medical equipment or other items to improve the life of their mito child which are not covered by insurance or other means; and this coming Saturday, May 9th, they are holding a walk-run event to raise money for their organization.

If you live in New Hampshire and you have a mito kid in your family, you should really check this out!

Wouldn’t it be great if we could get organizations like this in all the states or in different areas of the country? Maybe even the local UMDF chapters can look into doing some of these programs. Its the little things that help out dealing with the day to day of mitochondrial disease.

This coming Saturday, May 10th, is the 8th Annual Run Wild for a Cure in Cleveland, Ohio. They will have a 5K event and a 1 mile walk with entertainment, refreshments, a raffle and plenty of fun! The cost ranges from $15 to $25 per person, depending on age, and includes an event tshirt, admission to both the Cleveland Metroparks Zoo and Rainforest for the WHOLE day, and all the extras after the event! All proceeds will benefit the United Mitochondrial Disease Foundation. You can go HERE for more information and to sign up!

My daughter’s team is Team Ainsley – we’d love to have you join us and help raise money to find a cure!

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!