NATIONAL HARBOR, Maryland—Taking care of Kayden Chaffin has been a full-time job for his mother, Amanda Chaffin, ever since his birth in 2013. That’s because the boy, who lives with his family in Norman, Oklahoma, was diagnosed with spinal muscular atrophy (SMA) type 1 at 6 weeks of age.
“He wasn’t holding his head up, and we knew something was wrong. Then he developed a rash all over his body,” Chaffin told Rare Disease Advisor. “At his 1-month checkup, Children’s Hospital in Oklahoma City noticed his bell-shaped chest and his floppiness, so they admitted him for further monitoring. On the third day, the neurologist came in and asked if we had ever heard of SMA.”
She and her husband Josh, an air conditioning and heating specialist, were devastated by the news. In the years since then, Kayden’s disease has also become an enormous financial burden. The family qualifies for 12 hours of daily nursing assistance, but that costs $30 an hour, and Josh earns only $20 an hour.
“I suffer with anxiety and depression. I have revived my son’s life more times than I can remember,” Chaffin said. “And the sound of a [pulse oximeter] going off gives me [post-traumatic stress disorder].”
August is SMA Awareness Month, and Al Freedman, PhD, knows all too well what that anxiety and depression feel like.
Dr. Freedman’s son, Jack, had SMA and died in October 2021 at the age of 26. That gives the Pennsylvania psychologist a uniquely personal perspective from which to advise caregivers like Chaffin and others in similar situations.
“I’ve experienced rare disease firsthand as a parent. I’m also a practicing psychologist who specializes in counseling families like mine that are affected by rare disease. On a daily basis, I interact with all parts of the rare disease ecosystem,” Dr. Freedman said, explaining that “the 26 years with my son was my training—in addition to my formal training—to be helpful to other people in a clinical setting.”
At the Intersection of Rare Disease and Mental Health
Dr. Freedman’s son Jack was diagnosed with SMA at 6 months old and doctors thought he would live for only another year, he said.
“In my shock as a dad, I was afraid to get too close to my baby, because it would be that much harder when I lost him. I was scared. I didn’t know where to turn,” Dr. Freedman said. “He was diagnosed just as I was finishing my doctoral internship. I needed a psychologist while I was becoming a psychologist.”
Unfortunately, no treatments were available for the rare neuromuscular disease at that time, and “we were losing babies to SMA every week,” he said.
“There was never a time when I could do things with my son the way everyone else did. Out-of-the-box thinking wasn’t the exception, it was the norm,” he said. “Doing things differently is what families affected by rare disease have to do every day. Thankfully, baby Jack didn’t cooperate with his prognosis. He lived for 26 wonderful, beautiful, challenging years. We were very lucky to have Jack with us for so long.”
Dr. Freedman, who began his career as a classroom teacher in Quaker schools in rural Pennsylvania, said he’s the only psychologist he knows of who’s “living at this intersection of rare disease and mental health.”
One of the biggest problems families have, he said, is simply coming to terms with bad news.
“Regardless of the disease, our families are disoriented and often traumatized by the experience of receiving a diagnosis. All of our rare disease families live with some element of uncertainty,” said Dr. Freedman, whose daughter, Cara, works in the patient registry research department of the National Organization for Rare Disorders (NORD).
He added: “It’s impossible for any healthcare professional to have a deep knowledge base of all of the rare diseases that are out there, so I do my best to learn as much as I can. I interact with many rare disease advocacy organizations and support groups, and if I have the opportunity to meet an actual patient—or a bunch of patients in person now that COVID’s over—that makes me feel more credible as a professional.”
Along With the Pain, Some ‘Rare Gifts’
Even if treatments exist for a specific rare disease—as is now the case for SMA—the mental anguish for parents often endures.
“There are now 3 approved treatments for SMA, and more are on the way. The miracle of science has made it possible for babies with SMA to be symptom‑free if they’re treated before their muscles weaken,” he said. “Yet I’m now seeing parents of babies whose lives have been saved by treatments, and some of them are experiencing isolation and survivor’s guilt. They think, ‘How can I look another family in the eye when I know they’ve lost their baby to the same disease?’”
Dr. Freedman said he reassures such families that “many of us, myself included, are actually proud to see the babies doing so well after we worked so hard for so many years to fund research.”
To that end, he said, some people are deeply frustrated if their children don’t qualify for inclusion in clinical trials, which is often the case with neuromuscular diseases such as SMA, Duchenne muscular dystrophy, and Friedreich ataxia. Others do understand why exclusions matter, and how the criteria will eventually lead to helping other children.
Chaffin said her son Kayden could not get into a clinical trial, though he’s currently on risdiplam (Evrysdi®)—an oral medication that has somewhat stopped the progression of his disease. Like Dr. Freedman, she’s a fierce advocate of universal newborn screening for rare diseases like SMA.
“If we had had newborn screening and treatment available back then, I fully believe that my child today would not be ventilator-dependent, he would not be [using a breathing tube], and he possibly would not have a G-tube for nutrition,” she said.
Meanwhile, her other son, 12-year-old Brycen, is healthy.
“He knows how to hook up a food pump and feed his little brother, and he knows how to turn on the oxygen,” said Chaffin, who runs the Oklahoma chapter of Cure SMA, a nonprofit organization. “The boys have a good relationship. They watch TV together. They have their own way of communicating. Brycen is very protective of any disabled child.”
Dr. Freedman said it took him at least 20 years to realize that, as painful as it is to have a kid with a disease like SMA, not everything about the experience is negative and depressing.
“Rare disease also comes with some very rare gifts,” he said. “When I began this journey, nothing about it was positive. It took me a long time to accept that the child we had wasn’t the child we expected. But over time, I came to see Jack as a teacher. Every time he drove his wheelchair into a room without saying a word, our problems became that much smaller. These kids have the rare gift of bringing out the best in everyone whose path they cross.”