Q&A with Shivani Nazareth, MS, CGC, Director of Medical Affairs, Counsyl
August is SMA Awareness Month. If you’re unfamiliar with SMA (spinal muscular atrophy), you may be surprised to learn it is the number one genetic cause of death for infants in the United States. The condition causes progressive weakness in the muscles, making it very difficult for babies to move, swallow, and eventually to breathe. Signs of the disease often do not appear until a few months after birth, but genetic testing can identify at-risk parents even prior to conception.
To help raise awareness for this condition — which affects approximately one in 11,000 babies — I connected with Emily Bessey, who runs the Hearts For Ezra Foundationwith her husband, Ethan. Through the foundation, they have contributed a great deal to SMA cure research as well as to educating parents and doctors. Below, Emily and I discuss her family’s experiences with SMA, the beginnings of Hearts For Ezra, and why there’s hope for the future.
Your family has been personally affected by SMA. How did your experiences lead to establishing the Hearts For Ezra Foundation?
Our son, Ezra, was just 4 months old when he was diagnosed with spinal muscular atrophy. We were told that SMA is the #1 genetic killer of babies under the age of two. The pediatric neurologist sitting across from us explained how the disease slowly robs babies of their ability to breathe, swallow and move. Ezra was in my arms, bright eyed and smiley. And yet somehow we were expected to wrap our minds around the fact that he would not live to the age of two — and that our three-year-old daughter would have to slowly watch her brother die. We are thankful for our pediatrician, who was incredibly supportive and felt a connection to our family. Together, we started the Hearts For Ezra Foundation out of a feeling of wanting to turn our helplessness into action. It felt good to do our part letting others know about this awful disease we had never heard of. On a personal level, I also believe that by sharing the story of our son, we are helping to keep his spirit alive. Ezra has touched many lives, despite the fact that he only lived to be eight months old.
What are the main goals and current projects of Hearts For Ezra?
The Hearts for Ezra Foundation was created with two primary goals: to help fund research in the hopes of finding a cure and to educate others about spinal muscular atrophy. We hope to help both individuals and care providers to better understand the illness, to know the support services that are available to them, and to have access to genetic testing that can identify you as a carrier before even conceiving a child. Each summer we hold an awareness and fundraising event to celebrate how strong our muscles are. Children with SMA lack the ability to develop muscle tone. Think of all the muscles in our bodies — our lungs, our hearts, even our ability to smile. When a baby is diagnosed with SMA, they only have the muscle strength they are born with. Our summer event is full of activities that encourage movement and outdoor play. We have bounce houses, obstacle courses, stilts, hula hoops — all sorts of activities where children can use their muscles. During this event, we incorporate a fundraiser. Local crafters and businesses have been very generous with donating items for our raffles and auctions. Each year, we contribute the money we raise to the ongoing research for a cure.
What has changed in the years since starting the foundation?
The biggest change for us is that Ezra was still alive when we started Hearts For Ezra. We were planning a big fundraiser with a magician, live music, and a huge silent auction. He died just one month before the event was to happen. The event went on as planned, but honestly it is all a bit of a blur. We were so overwhelmed and touched by the outpouring of support by our community. People came out in droves and we raised about $20,000 for SMA research. We are very thankful for the ongoing support our community shows to our family and to Hearts For Ezra.
How can people contribute to the cause of preventing and curing SMA?
There is money needed to continue the research of finding a cure. They know what causes SMA and they are so close to finding a cure — but we aren’t there yet. The new treatment, Spinraza, is promising, but more research dollars are needed. You can visit our website: heartsforezra.org to find out how to contribute.
What would you say to couples who aren’t sure if they should pursue carrier screening before pregnancy?
I wish I had been given the opportunity to know what I was a carrier of prior to getting pregnant, but thankfully carrier screening has become much more affordable and accessible. We have a right to know what is going on with our bodies. I feel frustrated when I hear doctors say that carrier screening is not appropriate for the general population because it raises anxiety for patients. I was part of that “general population” and I happen to be a carrier of a fatal genetic disease. And I happened to fall in love with a man who also is a carrier of the same genetic disease. Each of our children had a one in four chance of having SMA. Knowledge is power. We have a right to know what we are carriers of so we can make the decisions that are right for our own families.
What gives you hope for the future?
I am so thankful to hear of the new treatment Spinraza that is available for children diagnosed with SMA. Although not a cure, this treatment is dramatically improving the quality of life for children with SMA. For some children, it might mean that they are able to stay off the bi-pap machine for a few hours a day. For others it means that they are gaining the ability to move their arms and legs. Small progress, but so significant for a disease that causes the breakdown of muscle tone. The impact is even more pronounced for babies that are given this treatment in the first two months of life. Although this development came too late for our son, Ezra, we will do our best to raise awareness and raise money for research so that our family’s story does not need to be your family’s story.
Thank you for all the work you do, and thank you so much for sharing your story, Emily!