ONE TOUGH MOTHER

LESSONS IN THE LIFE OF ONE TOUGH MOTHER

BY CHRISTINE PIACENTINO

What is “One Tough Mother”? The Duchenne Muscular Dystrophy Community and the rare disease community knows. That’s not to say that the mothers in these communities do it alone; some do. There are fathers known as “Super Dad” What makes us these monikers? Most of the people I have met are resilient and tenacious, and no or can’t is a word that is not readily accepted. I have my reel of snapshots that highlight both resilience and tenacity.

The first snapshot was an initial appointment with an orthopedic doctor to have Jonathan fitted for night foot braces. Night braces are essential to keep heel cords stretched for more extended mobility. As he examined Jonathan, he looked at me and said, “I don’t know if I could handle having my son receive a diagnosis of Duchenne muscular dystrophy; I would be in the psych ward.” My 4-year-old and I left that appointment as fast as we could. I immediately called my son’s pediatrician to find another doctor. Jonathan wore night splints until adulthood. Muscular Dystrophy Conferences. This conference put the world’s leading experts in Duchenne Muscular Dystrophy in the same room with parents. At the time, there was not a standard of care for Duchenne patients. I remember sitting in the conference auditorium listening to two doctors screaming at each other about the pros and cons of using corticosteroids like Prednisone or

Deflazacort. I came home from the conference and told my husband we were screwed and on our own! The medical community could not agree on the use of Prednisone or Deflazacort.

We spent months researching be benefits and the side effects of both drugs. Prednisone was readily available in the United States. Deflazacort was not approved in the United States but supported in Europe. As a result of our research, we decided to give Jonathan Deflazacort. At the time, our options were to import from Mexico or Europe without a Doctor’s expertise.

Upon further research, we found a doctor doing a study on Deflazacort in Toronto, Canada. We traveled to Toronto every 6 to 8 months. The doctor retired in 2012, and we were able to import deflazacort from the UK until EMFLAZA (Deflazacort) was approved in the US by the Food and Drug Administration. The third snapshot was the agonizing decision of enrolling my son in an experimental drug trial for a drug for his specific genetic mutation.

It was a tough choice to enroll in an experimental drug trial. We didn’t know if the drug would work or change Jonathan’s trajectory in the disease. We also did not know what side effects my son would encounter. We also didn’t want to stop deflazacort, which we knew was beneficial. We decided to wait until the safety trials for Duchenne patients concluded.

“What is “One Tough Mother”? The Duchenne Muscular Dystrophy Community and the rare disease community knows.”

as the drug was an oral delivery in a suspension liquid and not an injection or an infusion. There was also the larger question. Would this new drug extend our son’s life or further limit his life span? Even more so than the current prognosis at the time was the early 20s. There were three trial sites, Philadelphia, Cincinnati, and Salt Lake City. Of course, the site furthest away from Rochester was accepting patients. My husband and son traveled to Salt Lake City for evaluation to determine if Jonathan met the criteria to participate in the trial. Once approved for inclusion, my husband and son traveled once every 4, 8, and 12 weeks through different trial phases. My husband shouldered the burden of all the trips to Salt Lake City.

In 2009 the trial was stopped. Jonathan had responded well to the drug and maintained his function while on it. Jonathan experienced a decline when not on the medicine. The University of Salt Lake restarted the trial in 2010. The study coordinator moved to Columbia University in 2014. Jonathan and I travel once a year to New York City to continue monitoring. After 15 years in this trial, we are still waiting for approval in the United States. Approval has occurred in Europe. Jonathan is now a 28-year-old adult with the pulmonary function of an average healthy person. This functionality is very rare in Duchenne. Due to his

success. Jonathan felt it necessary to testify in front of the Food and Drug Administration in 2017. He was speaker number 6 at the open public hearing.

My last snapshot is a recent conversation with Jonathan as I put him to bed. Jonathan lost his mobility at 22 and now relies on aides or me to help him shower, dress, etc. Jon weighs 137 pounds, although I can still lift him if needed, I rely on the help of a ceiling lift at home or rent a patient lift while traveling. This night the sling was not evenly placed, causing one leg to fall asleep and the other leg to get a full stretch in his upper thigh muscles. He said, “Amazing what good care looks and feels like.” “I’m still pretty flexible.” The University of Rochester Medical Center Neurology Clinic is a Certified Duchenne Care Center. The Certified Duchenne Care Center Program seeks to ensure standardized and comprehensive Duchenne Care is consistent across all the care centers in the United States. The UMRC received its designation in February 2019. Duchenne Care Centers don’t follow the normal practice of receiving specialized care in silos.

In the end it does pay off to be a seeker of knowledge and to never, ever give up.