In Handling Genetic Disorders - A Mitochondrial Disease Family's Story, I talked about Susan Zelenko and her family and how she came to terms with dealing with her daughter’s mitochondrial disease diagnosis. 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.