Handling Genetic Disorders - A Mitochondrial Disease Family's Story
I recently received an email that reminded me of a reality many of us take for granted:

Dr. Gwenn,

I am the mother of a little girl diagnosed with Mitochondrial Disease Complex I. I've recently become involved in the Mitochondrial Disease Action Committee (MDAC), who partners with Mass General, Tufts-NEMC, Children's and the Genesis Fund, among others….

Unlike your recent article, we are one of the families whose children see many specialists... it is exhausting, and heartbreaking, and there is no end in sight. But I've chosen to fight the enemy, so to speak, by getting involved and promoting awareness as I am now.

Susan Zelenko

Learning your child has a significant diagnosis is never easy. But imagine learning your child has a genetic disorder that will significantly threaten the quality of your child’s life, and life expectancy. Would you live life in fear and uncertainty or find away to become empowered to take action? For many families, facing this situation triggers a deep seeded call to action. A call to protect their child, advocate for their child and help other children facing the same beast.

This is the life Susan and her husband, Victor, have been living with their daughter, Martha, now 7 years old. Martha’s situation took years to sort out. All doctors could say initially was that she had a metabolic problem and likely autism. It took years for technology to advance enough to identify that Martha actually had a mitochondrial disease, a disorder involving our cell’s energy generators. Once Martha was placed on a mitochondrial energy drink, her energy improved and her autistic symptoms cleared. To the entire world, she is just like every other first grader – expect gets tired easily and can get very sick without warning if she becomes dehydrated, overheated or sick. Not knowing what tomorrow will bring is the scary part for the Zelenko family. There is no road map to follow to predict what other organ systems may become involved.

Susan became involved in the Mitochondrial Disease Action Committee (MDAC) through the doctors and nurses who cared for Martha. Susan is now the MDAC spokesperson and helping to facilitate more educational programs for all aspects of the medical and general communities. In a recent press release, Susan wrote:

Despite the recent interest in the field… there just isn’t enough help for patients…The MDAC seeks to actively attract more medical and scientific students into the field. Currently, the group is publishing a patient manual, a physician manual, and a children’s book. Additionally, volunteer “Mito Advocates” go into schools and workplaces to educate and provide logistic solutions for patients in those environments.

Susan feels advocacy is the only way to be proactive. At the same time, she realizes she needs limits. The MDAC is only one aspect of her life. In the big picture, while Martha will always have her mitochondrial disease, Susan does not want it to consume her entire childhood and life. “I want this kid to still enjoy life and focus on the here and now”.

 

http://www.bellaonline.com/articles/art3327.asp

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