Turning Adversity to Advocacy

Your Child’s Health, 2006 #11

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”. 

Susan found a niche within an existing organization but some families whose children have genetic disorders opt for a different path of advocacy because the resources they need just are not in their area. This is the situation Christine McSherry found herself in when her middle son, Jett, was diagnosed at the age of 5 with Duchenne Muscular Dystrophy, DMD.

Christine McSherry is a registered nurse, wife and mom to five children ages 9 to 13, two girls on the top end and three boys on the bottom.  Jett seemed just like his brothers except his father noted he didn’t run the same as other kids and his calf muscles seemed very pronounced.  At Jett’s 5 year old checkup, Jett could not touch his toes and had to use his hands to get up from a kneeling position, a hallmark sign of muscular dystrophy called a Gower’s Sign. In a blink of an eye, the McSherry family was suddenly facing a world of specialist and a progressive disorder that would eventually be fatal.

Christine craved information but found it difficult to find and could not find too many support resources in her own community. “Thank God for the internet”, she mentioned to me. Via the internet, Christine was able to connect not only with some of the top DMD researches in the world but other parents who shared their experiences and information with her. That was the beginning of the dust clearing, and the roots of a new foundation, the Jett Foundation. Christine told me “I’m not going let other families in Boston spin their wheels. Each family has to realize that if their child has a big diagnosis, they have to be their child’s advocate and do their homework. You have to always ask ‘what else can I do’?”

To date, the Jett Foundation has raised close to 2 million dollars. Christine spends her time talking to medical experts and other parents. Her goal is to make it easier for other families to get the information that she had to really hunt for. She is currently helping to develop a book for DMD families that will allow them to organize their medical information and provide them with questions to ask at their doctor’s visits as their son’s situation progresses. But beyond advocacy and outreach, Christine also hopes to use the foundation money to augment DMD services in the Boston hospitals. “Money talks and research needs money”. 

Learning about the plights of children like Jett and Martha are vivid reminders of what is really important in life. I’d like to think if I faced a similar situation with one of my kids, I’d have ½ the grace and resiliency of Christine and Susan. And, I now know who to call. I guess that puts us all a step ahead of where Christine and Susan’s stories began – which is the legacy both are most proud of.

Fast Facts on Mitochondrial Disorders

Incidence: 1:3000-4000

Types: More than 40

When Does it Present: often during infancy

What is it: genetic disorder of the mitochondria – our cell’s Duracell batteries.

Symptoms: variable and unpredictable but can include muscle weakness/pain, exercise intolerance, heart disturbances, stroke-like episodes, dementia, deafness, blindness, droopy eyelids, pulmonary weakness, liver, kidney, gastrointestinal and/or pancreatic dysfunction, vomiting, seizures, or metabolic acidosis. 

Prognosis: variable depending on severity

Specialists Involved: depends on organs involved but often includes neurologist, geneticist, cardiologist, orthopaedists, endocrinologists, gastroenterologists, psychologists

Fast Facts on Duchenne Muscular Dystrophy

Incidence: 1:3500 males 

Types: One of 20 muscular dystrophies and the most common lethal genetic disorder of childhood

When Does it Present: early childhood

What is it: genetic x-linked disorder; most common and lethal genetic disorder

Symptoms: progressive muscle weakness and later on respiratory and heart complications. 

Prognosis: often fatal by 20 years of age

Specialists Involved: neurologists, geneticist, and orthopaedists; depending on symptoms many boys also need pulmonologists and cardiologists; most boys are in counselling

Other Web Resources on Genetic Disorders

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