At 7 months old, Sarah Zmaczynski’s parents, Jill and John, noticed their daughter couldn’t bear weight on her legs. Sarah’s pediatrician responded with the “kids develop at different rates” speech. As John has a family history of late walkers, the Zmaczynski’s thought maybe their worries were unfounded. Although one in 50 people carry the genetic mutation that causes the disease, some doctors are still not familiar with spinal muscular atrophy (SMA). This is another reason why awareness is so important to families affected by SMA.

Sarah qualified for Early Intervention and began physical therapy at age 1. After a couple months of no progress, Jill and John decided to see a neurologist. Following a few tests, the neurologist believed Sarah had SMA, but remained officially undiagnosed. A nerve conduction velocity (NCV) and electromyography (EMG) test were ordered a couple months later by Sarah’s neurologist, and in December 2016, Jill and John were referred to a geneticist. The Zmaczynski’s transferred to Lurie’s Children’s Hospital after growing frustrated by the lack of knowledge in treatment and care. Sarah was officially diagnosed with SMA in January 2017.

After Sarah’s diagnosis, Jill and John contacted Cure SMA and received a Newly Diagnosed care package. Many items in the care packages, such as toys, have been suggested by families based on type, abilities, and personal experience. The care package also includes a newly diagnosed binder with important information about SMA, the SMA Care Series Booklets, and a list of resources available in your state.

We are fortunate to be in a situation where we can handle the budgetary impact of this life. It is nice to have an organization like Cure SMA that I can confidently direct friends and family to when they want to support us financially. Supporting Cure SMA supports our family,” said Jill. 

Jill and her family have now attended Cure SMA’s Annual Conference for the second year in a row. Jill shares that conference is the only place Sarah can go where activities fit her needs and looks forward to future conferences when Sarah will be old enough to form friendships with other children affected by SMA.

The Zmaczynski’s story emphasizes how difficult it is for undiagnosed families to get the support and information they need. Because treatment is still new to many hospitals, Cure SMA is working with doctors and hospitals across the country to ensure families living with SMA receive the best care available amid the new discoveries and information.

Interested in learning more about the resources Cure SMA offers? Our family support staff is available to help assist those affected by SMA. This may mean providing information on SMA, connecting you with resources in your community, or being a listening ear. For more information, visit our For Newly Diagnosed page.