“Going the Extra Mile”
By Helena Yan, Medical Student at University of Illinois at Chicago in Illinois and winner of 2021 Cox Scholarship
I first learned of rare diseases in college, while shadowing a pediatric neurologist who ran a clinic for rare white matter diseases (leukodystrophies). One patient that I still think of after all these years is JJ1. JJ and his family had recently moved to the US from India for the sole purpose of seeking medical attention. When he was five, JJ got sick and started having trouble seeing and walking. For the next ten years, his parents brought him to countless neurologists around India in the search of a diagnosis, but no one was able to offer an answer. Finally, a doctor suggested that it could be a rare neurological disease called globoid cell leukodystrophy. But the problem was that the disease was so rare that JJ’s family couldn’t confirm the diagnosis and couldn’t find a doctor who knew how to treat it. His parents decided to immigrate to the US in the hopes that doctors here would be able to offer some answers.
When I met JJ, he was still settling into living in America. His eyes were misaligned and made it hard for him to read things on the whiteboard at school, but he loved learning chemistry. His classmates guided him in the hallways between classes. He wanted to become a special needs teacher so that he could help other children with disabilities thrive in school. Talking to JJ and his family, I was floored by how resilient they have been all these years and how much effort they’ve put into figuring out his diagnosis. I was so happy for them when the neurologist I was shadowing started pulling in physical therapists, social workers, and an entire care team to help. JJ and his family walked out of that first clinic visit with an answer that they had been searching for ten years, a new walker for JJ to use at school, a series of appointments for fitting leg-braces, an appointment with an ophthalmologist, and most importantly a care team that had a plan on what to do next.
That shadowing experience showed me how resilient rare disease patients are and how much difference a rare disease specialist could make in a patient’s life. JJ and his family are one of the reasons I decided to apply to medical school and why I spent my gap years working in patient advocacy and rare disease clinical research.
I signed up for Global Gene’s Rare Compassion Program because I wanted to know how I could better care for rare disease patients. Medical school is teaching me the facts of diseases— what symptoms to expect, what treatments are available—but school doesn’t tell me anything about how patients feel about their own health. What do they struggle with day-to-day? How do they feel about their doctors—do they feel like they’re well cared for? What do they wish their doctors knew? How has their illness affected their lives? Charlotte2, one of the patients I was paired with, answered all these questions and more.
Charlotte has amyloidosis, a disease where abnormal proteins accumulate in vital organs such as the heart and liver and can cause organ failure. Prior to falling sick, she was an avid runner and volunteered often with her church. But all of that changed after her symptoms started. She would run out of breath after climbing just one flight of stairs at home, her hands and feet would go numb at times, and she was constantly tired. She couldn’t volunteer with her church anymore, had to quit working, and spent a lot of time at the hospital. She and her husband turned their 10-year plan into a “do now” plan.
Thankfully, Charlotte was able to get diagnosed and, after trying a few therapies, her hematologist-oncologist put her on a drug that has greatly reduced the amount of proteins building up in her organs. One year after starting the treatment, Charlotte can go for short walks without being completely exhausted, has started working part-time again (virtually), and volunteers with amyloidosis advocacy groups.
Things are better than before, but it’s been a hard two years and Charlotte continues to struggle with her own medical care. She has a specialist for each organ affected (heart, liver, kidneys, brain/nervous system, blood) and they don’t all work at the same hospital, so it’s difficult to get everyone on the same page. A drug that her neurologist wants to prescribe for her tingling sensation has to be cleared by her hematologist-oncologist before she can start taking it. She sometimes needs to email or fax in notes from her various doctors so that it’s available in each medical record system. Not everyone agrees on her care either—her cardiologist thinks that she should pay out-of-pocket to get genetic testing for a familial type of hyperlipidemia (high fats in the blood) but her genetic counselor says that her family history doesn’t fit the picture. Charlotte wants to get a second opinion from another cardiologist, but the expert in heart disease in amyloidosis is a 3-hour drive away. The pandemic has allowed her to do virtual visits, cutting down on travel time, and she’s often able to have bloodwork done at a facility closer to home, but the truth is that she still spends a lot of time coordinating and attending her appointments.
When I first started medical school, I was worried that I wouldn’t be able to remember all the diseases I learned about in class and that I would overlook a rare diagnosis. But these past few months have taught me that getting a diagnosis is just the tip of the iceberg for patients. Around the same time, I started the Rare Compassion Program, I also started volunteering at a free clinic. The patients who attend the clinic don’t have any kind of health insurance, live paycheck-to-paycheck, and financially support the rest of their family. The clinic offers doctor’s visits and dispenses medications for free but it’s not always enough. I’ve had patients wait months to get an appointment at the local county hospital after we refer them for additional work-up, only to decide not to go because they’re worried they can’t pay the bill. As I continued working there, I couldn’t help wondering “What would a patient at this clinic do if they were diagnosed with a rare disease?”
Charlotte tells me about how physically and emotionally overwhelmed she felt when she was extremely sick and didn’t know about amyloidosis. While she’s able to manage all the logistics of her care right now (all the appointments, notes, and lab work) and her family has been extremely supportive and helpful, she admits to me during one of our last sessions, “I’m not sure if I can do all this if I were to get really sick again.”
In all my interactions with rare disease patients, I have been struck repeatedly by the seemingly endless reservoir of determination and strength that rare disease patients and their families have. But would this reservoir be enough for patients of lower socioeconomic status? Would they be able to access the same therapies? Would their children and families still be able to make ends meet if they had to take time off work?
The drug that ultimately changed the course of Charlotte’s disease is actually a chemotherapy drug and isn’t available to all amyloidosis patients. Her hematologist-oncologist had to jump through a few loopholes in her insurance policy by classifying her disease as a cancer so that she could get the therapy. She told me that a few other patients in her amyloidosis support groups wanted to try the same drug because off-label use has shown promising results. But insurance companies don’t always pay for off-label use and these medicines are often costly if one is paying out-of-pocket. “Why can’t the doctors get their patients the drugs that they need?” Charlotte asks, “Why is it sometimes so hard to get the proper treatment?”
When I worked as a clinical research assistant, I had the opportunity to help a doctor put together a compassionate use application. These applications (also known as expanded access protocols) allow a doctor to use an investigational new drug product outside of clinical trials in instances of serious or life-threatening diseases where there are no satisfactory alternative treatment options. In this case, the patient was an 8-year-old girl with Niemann Pick Disease Type C, a devastating neurological disease with no cure. She was deteriorating and her mother was desperate for anything that would delay her disease progression, which is why the doctor suggested an experimental drug which was still pending FDA approval but had promising results in clinical trials. We spent hours putting together the protocol: detailing the severity of the child’s disease, presenting the data showing drug efficacy, outlining the therapeutic regimen, and designing a monitoring schedule for any adverse effects. The entire application was over 20 pages long and required reviews from committees at both the hospital and the FDA. While it was a lot of work to put it together, and I left for medical school before the girl could start treatment, I still saw how the application gave the girl’s mother some hope and showed her that the doctor was willing to fight for them.
In these instances, with Charlotte and the little 8-year-old girl, their doctor’s extra effort yielded additional treatment options. But if the free clinic patients were to be diagnosed with a rare disease and had to go to a local county hospital for care, would their doctors be able to put in the extra work? Of course, equitable access to healthcare is already a challenge for people of lower socioeconomic status, but in cases of rare diseases, where it’s so easy for patients to be dismissed by healthcare professionals and to hit a dead end or be written off as a mystery case, it’s doubly important to have a doctor who is willing to go the extra mile for their patients.
I had started my exchange with Charlotte with a simple hope that she could teach me to be a doctor better attuned to the needs of rare disease patients. While our conversations have taught me a lot about taking patient concerns seriously and going beyond the standard treatments in order to help patients, it’s also raised larger questions. Namely, how can we make quality healthcare more accessible for all rare disease patients, regardless of their background? I’m still at the beginning of my training, but I’m starting to realize that solutions to these big questions will require many people advocating for a significant change in the healthcare and insurance system and may take years. This is why I co-founded a rare disease club at my medical school last year and why I’ll be inviting doctors and patients to talk about the extraordinary lengths that they’ve gone through to get proper care. Perhaps highlighting instances of doctors going the extra mile to my classmates will make it less of a special occurrence and more of a natural habit. In the end, all it takes is one doctor to make a difference in a patient’s life. All it takes is a bit of extra work to offer a patient an opportunity that wasn’t possible before. I am committed to being a doctor who goes the extra mile for my patients. And if I can do my part in passing this message on to other doctors and my fellow classmates, then maybe one day all rare disease patients, regardless of resources, can get the care they need and deserve.
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]