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Muscle Biopsies – To Do or Not To?

7 Aug

Anyone in the mito community has heard the line – “the muscle biopsy is the GOLD standard in mitochondrial diagnostics” – however, that is quickly changing.  The problems with diagnosing mitochondrial disease is that it is an arduous process, many mitochondrial symptoms are misdiagnosed as other problems, and the main testing vehicle  – the muscle biopsy – was invasive and expensive.  Many labs have been working on this issue and there are new tests popping up in clinical trials, and hopefully in clinical practice, as we speak.

As a patient, or the parent of a patient, who is pursuing a mitochondrial diagnosis, however, the negatives associated with the muscle biopsy are a real problem today – and one that should take careful consideration.  There are many things you should consider before undergoing a muscle biopsy – real concerns and issues.

Dr. Fran Kendall, of Virtual Medical Practice, has put together a great document to start with when faced with the decisions surrounding a muscle biopsy -  Muscle Biospy FAQs .   I found it to be very insightful and interesting, and to provide answers to so many questions that I would have wanted answered three years ago before my daughter’s muscle biopsy.  I hope you find it just as helpful!

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Mito, the Aging Process & Other Diseases

13 Apr

There is more and more research connecting mitochondrial dysfunction with many other major diseases and illnesses – including autism, parkinson’s, alzheimer’s, and even some forms of cancer. The link between the mitochondria and other diseases, as well as aging in general, is in its infancy and needs much more research! Not only will this research help us understand many other conditions, but it may also lead to treatments and cures – for mitochondrial disease as well.

Vamsi Mootha, MD, PhD at Harvard speaks on behalf of about the impact of the mitochondria on many common diseases and the aging process in this video. Definitely interesting!

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Mighty Mitochondria in Action – Video

10 Apr in conjunction with students from the Center for Digital Imaging Arts at Boston University have put together an informative video that helps explain what happens to cause mitochondrial disease. This is a pretty interesting and informative video that would be great to show to teachers, friends, and family to help explain “mito” in a simple way. While it is not all-encompassing, it is not intended as such – rather it was made to simply give an introduction to mitochondrial disease and raise awareness.

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The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act

27 Jan

On Thursday, December 10, 2009, Senator Barbara Boxer (D-CA), introduced S. 2858 – “The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act of 2009”. Senators Richard Durbin (D-IL), John Kerry (D-MA) and Robert P. Casey (D-PA) all signed on as co-sponsors of the legislation.

The house measure is a companion bill, HR 3502, which was introduced by Representative James McDermott (D/WA-7), introduced in July, 2009, and carries 29 co-sponsors representing a mix of democrats and republicans. Both measures call for the creation of an ‘Office of Mitochondrial Medicine’ within the National Institutes of Health (NIH); asks the NIH to develop a research plan to promote and coordinate efforts to educate researchers and health providers about mitochondrial disease; and for the NIH to award grants to increase research of mitochondrial diseases and to establish Mitochondrial Disease Centers of Excellence to promote research, education and mitochondrial medicine training.

The United Mitochondrial Disease Foundation has an Action Center where you can find your legislator and also get information on how to send a letter asking for their support. You can go HERE to help advocate for this worthy cause!

I’ll post the link HERE shortly on where you can go to see full copies of the bill and/or download it. I’ll also be keeping you updated on the status of this bill!

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Taking the Blog to a New Level

27 Jan

When I first started this blog, the idea was to put cutting edge information on mitochondrial disease on the site – so that it would be a place that would have all the information on mitochondrial disease in one place.

As I have worked on the blog and thought more about it, while I am still going to post information on new research, articles, and all information related to mitochondrial disease, I am also going to focus on my personal experiences with my daughter’s mitochondrial disease. I will be posting articles on medical and therapy tips, dealing with IEPs, day-to-day issues with a special needs child or a medically fragile child, and just dealing as a parent with the demands and stresses that having a child with mitochondrial disease puts on you and your relationships.

I’m hoping that by expanding the scope of this blog, I will post things that are of interest and help to more people and families dealing with mitochondrial disease, or even just special needs children or with rare diseases.

I look forward to hearing from you! Leave a comment and let me know if there are certain things you would like to hear about, things that you like that I am writing, and whether I need to focus on something specific!

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Sign up for my RSS feed

17 Jul

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!

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General Management of Mitochondrial Disease

25 May

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!

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Mito Events Around the U.S. – Ohio

4 May

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!

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Epilepsy Articles Go Mainstream

15 Apr

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

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Epilepsy Drug Can Cause Metabolic Acidosis

24 Feb

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.

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