“Hearing Hoofbeats”
By Swathi Balaji, Medical Student at University of Southern California Keck School of Medicine in California and winner of 2021 Cox Scholarship
In college, I had done four years of research on rare forms of diabetes. I had interviewed patients with monogenic diabetes and witnessed just how devastating it was to be misdiagnosed with Type 1 or Type 2 diabetes and waste thousands of dollars on inappropriate treatments. After my experiences with these medical zebras, the diagnostic odyssey that RARE patients face became even more profound and solidified my resolve to be an advocate for the rare disease community.
These experiences inspired me to participate in the RARE Compassion Program three years later as a medical student. When I signed up for the program, I imagined I would learn about patients’ challenges with diagnosis and treatment, and I got that and much more – a chance to be in people’s lives, make a difference, and share the lessons I’ve learned.
In-Program Experience
I was first paired with Anita, a rare disease patient and advocate who lives with a condition called GNE myopathy. GNE myopathy is a rare muscle disease that affects 1 to 9 in a million people in early adulthood. It is characterized by the onset of muscle weakness and causes the muscles to waste away, but it interestingly spares the quadriceps.
Anita immigrated to the US in her early 20s and didn’t experience symptoms until she was 37. Her siblings also experienced symptoms in early adulthood. It was a stigma to live with GNE myopathy. When her sister had symptoms in the 1980s, neighbors assumed that someone had cursed her and said she was lazy or had bad karma.
Anita’s symptoms started off with a foot drop, stubbing her toe, and tripping and falling. Over time, she had to give up her favorite pastimes like dancing, going to the beach, and hiking. She had to let go of friends and couldn’t go with her daughter to the mall, because she felt self-conscious about limping and using a cane. Her myopathy has progressed to the extent that she now uses a wheelchair and cannot move her calf muscles or feet and can barely move her upper arms. She relies on exercise as her lifeline to slow down the progression of disease.
For years, her family searched for an answer, but how could they get a diagnosis for a disease that the world knew little about? The GNE gene wasn’t even discovered until 2001, and the disease, which had numerous names, was classified as GNE myopathy at a consortium in 2014. After getting ‘inconclusive findings’ and being misdiagnosed with muscular dystrophy, Anita was finally diagnosed in 2011, after 40 years of sending blood samples and muscle fiber biopsies around the world.
Living with GNE myopathy is incredibly expensive, due to the need for assistive devices, a home health aide, physical therapy, and occupational therapy. Anita told me it’s better to be poor with rare diseases because you can get help; otherwise, you’ll fall through the cracks in insurance coverage.
There are ongoing clinical trials, but no definitive treatments thus far. Finding a treatment depends on successful research efforts, funding, and continued patient advocacy.
The diagnostic odyssey and lack of treatment were unfortunately a thread woven through many of my RARE encounters.
During the second half of the program, I was paired with Charlie, a 7-year-old boy who suffers from Juvenile Tay-Sachs disease. Tay-Sachs is a rare disorder characterized by the accumulation of lipids in the brain and progressive neurodegeneration, and the juvenile form has an onset between 2 and 10 years of age, unlike the infantile form.
Although Charlie couldn’t say much to me, he had the most beautiful smile, one that brought me to tears. He pointed and giggled as I showed him my stuffed animals, and I felt so lucky to be interacting with him and his family. He is incredibly loved, and he is a “big little brother” to his younger sister.
Charlie’s mother, Sarah, told me that his symptoms had begun with a floppy head during infancy. He can only say about ten words due to his low muscle tone; it is hard for him to aim and chew, and he often aspirates his saliva. He also has a crouched gait and has problems with eye tracking. At school, he uses an augmented communication device, and he undergoes adaptive physical therapy, occupational therapy, and speech therapy every week.
Speaking with Sarah taught me how challenging day-to-day life can be for the rare community. His family had to deal with many frustrating challenges, including incompetent and insensitive care providers, like the geneticist who simply dropped the diagnosis on them, without giving them any way to process and cope with it, and the neurologist who ignored important lab results. Sarah informed me that she had felt overwhelmed and isolated after Charlie’s diagnosis. She told me that their family has ‘Chronic Traumatic Stress Disorder (CTSD),’ a term they coined to reflect the disease’s emotional toll. Sarah and her husband Dave told me how without proper communication and therapy, a child’s rare disease can create worry and blame between spouses.
I vividly remember what Dave said about raising a child with a progressively debilitating rare disease: “You can’t grieve what’s not gone yet.”
From Charlie’s family and Anita, I have learned about the dual roles that patients and family members have to play as caregivers and the importance of compassion in every interaction. It reassured me to learn there are networks to facilitate diagnosis and connect patients, and larger foundations such as the Neuromuscular Disease Foundation (NDF) and National Tay-Sachs & Allied Diseases (NTSAD) dedicated to advocacy, education, outreach, and funding. As a future physician, I will use my power to understand the multiple challenges that RARE patients and families face, connect patients with longitudinal resources, and advocate for them.
Post-Program Insights
Two weeks ago, I attended the RARE Health Equity Summit in Philadelphia as a RARE filmmaker. The documentary I created was the culmination of my experiences over the last 8 months, and I shared two patients’ experiences with GNE Myopathy and TKT Deficiency Syndrome and how medical students can prepare to treat patients with rare diseases. Creating this documentary has been one of many endeavors to be a RARE advocate and spread awareness of rare diseases among patients, families, and health care professionals.
While at the conference, it felt like I was in the mecca of communication about rare disease and the fight for health equity. Over the three days, I met a patient with autoimmune encephalitis and learned about her lived experiences and how she copes with her illness. I met RARE parents who shared what it was like to lose their children and to now be advocates; they inspired me to keep up the fight for equity. I also identified ways to improve health literacy in a team-based learning workshop.
My largest takeaway from the RARE Compassion Program and Health Equity Summit is that doctors should demonstrate empathy and admit when they do not have all the answers to earn a patient’s trust. Unfortunately, the burden often falls upon the patient to be aware of their body and speak up. Project Echo is an initiative I learned about at the Summit that I will implement to fill in the gaps in physician knowledge and alleviate some of the burden that falls on RARE patients and families.
I am in a unique position, having been a patient on the verge of becoming a physician. It is overwhelming to learn thousands of diseases and impractical to learn them all – but I can at least try, listen carefully to my patients, and let them know that I will be doing more research to diagnose them. It’s about time that medical professionals pay attention to the zebras, so we don’t become the doctors that repeatedly misdiagnose patients or fail to recommend genetic testing. Research and registries are critical elements of diagnosing and treating rare diseases, but they are inadequate if the change doesn’t happen in the fundamental way we think. We must exhibit RARE Compassion in every interaction.
Note: Patient and family member’s names have been modified to maintain confidentiality.
The David R. Cox Scholarship is an opportunity offered to medical students in our Rare Compassion Program. In 2021, participants were asked to submit an essay about their experience working with a rare patient or family. Among the numerous essays received, three winners were selected. For more information about the Rare Compassion Program or the Cox scholarship, please email us at [email protected].
Read essay, “Going the Extra Mile” – Helena Yan, second place winner
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