Madison Lodge is a second-year medical student at the Keck School of Medicine at the University of Southern California. As a participant of the 2019 RARE Compassion Project, Madison was eligible to apply for a David R. Cox Scholarship for RARE Compassion and share her experiences with a rare disease patient. The excerpt below is a personal essay from Madison.

My name is Madison, and I’m a second-year MD student. I have known two children impacted by a rare disease. My childhood friend, Margaret*, has cystic fibrosis. I kept her company for hours while she completed her lung treatments and chest physiotherapy, three times daily. Any trips or activities that our families planned involved scheduling in her necessary health routine. For Margaret, acquiring an upper respiratory infection led to a hospitalization and a subsequent decline in lung function, ultimately resulting in a double lung transplant at age 21. I also know the Green family from music class. Their youngest child, Shay, had mitochondrial disease. The diagnosis was complex, and the Greens struggled to find the right specialists to manage her care. While visiting Shay in the hospital, I was fascinated by the ability of her diagnostic referral doctor to understand the complexities of her illness that affected every organ system. I subscribed to her mother’s blog, researched the disease in school, and frequently visited in the hospital until she passed at age six. My early experiences with Margaret and Shay sparked my interest in medicine, specifically in pediatrics and genetics. 

The initial weeks of medical school were filled with concepts of foundational genetics and biochemistry. However, I’m fortunate that my professor, a geneticist, taught us the “zebras” of medicine (rare genetic diseases) while simultaneously emphasizing the human component of disease. Dr. James invited his patients to speak to our class about their rare genetic diseases, their experience interacting with the health care system, and the impact of disease on their family. After each lecture, I felt in awe of the uniqueness of each patient, the plethora of diseases, and found myself questioning – how can any doctor sort through all of these diseases to make an accurate diagnosis?! I reflected back on my understanding of Shay’s experience, and I felt motivated to gain a deeper understanding of patients with rare disease from a new perspective as a future health care provider. I joined my school’s Genetics Student Interest Group, became co-president, and Dr. James suggested that I connect with a patient through the Global Genes Rare Compassion Project, so I eagerly signed up and was matched with Paul and his family. 

Paul lived a normal life up until age seven. At age four, Paul was introduced to soccer after receiving a Manchester United jersey as a gift. After watching a video of Chicharito, the player on the jersey, Paul fell in love with the sport. To this day, Manchester United is his absolute favorite team. Paul’s mom, Chloe, supported his passion for the sport: lugging him to soccer practice, watching hours of videos, and attending his games. When Paul was seven, his foot was stepped on during a soccer scrimmage. His foot swelled, and he experienced excruciating pain; however, unlike other injuries, the pain never stopped, and the swelling never decreased. This moment was the beginning of his journey with Fibro-Adipose Vascular Anomaly (FAVA).

The Evans family consulted with several physicians for over a year before receiving his diagnosis of FAVA. Paul, now 11, described this period of uncertainty with lots of missed school, confusion, two biopsies, attempted sclerotherapy, and a period of being wheelchair bound. According to the physician, the sclerotherapy “didn’t take,” and he only knew that Paul didn’t have a venous malformation or an arteriovenous malformation. After one of his procedures, Paul woke up from anesthesia and asked, “did they fix it?” He didn’t understand that all of the consults with doctors and procedures were simply to name the problem. Unfortunately, Paul’s family was still a long way from a diagnosis and at a young age, Paul began to recognize that even doctors don’t have all the answers. When Paul was in a wheelchair, his friends supported him as best as seven-year-olds can. During our conversation, he teared up describing how his friends would spend their recess pushing him in his chair. One time during PE, they held a race: Paul pushed in the wheelchair vs kids running. He toppled out of the chair, and the teachers created a rule that kids could no longer push Paul. But while telling this story to me, Paul grinned and laughed reflecting on the support of his friends. They did their best to make him feel included and able to participate in the same activities. Teachers are busy with lots of students, so he couldn’t rely on them to push him in his chair. Also, since no one understood the pain in his foot, teachers would send him to the nurse for ice, a futile effort. Thus, he quickly learned how to take care of himself. All the while, Paul continued to play soccer despite the pain. Even putting on his cleats caused him to shriek, but he persisted. Paul was misdiagnosed by orthopedists, interventional radiologists, oncologists, hematologists, dermatologists, etc., until he connected with the Birthmarks and Vascular Anomalies team at Children’s Hospital of Wisconsin to receive his diagnosis. Not taking any chances, his family requested a second opinion with the Vascular Anomalies team at Boston Children’s Hospital to confirm the diagnosis. Finally, Paul was diagnosed with FAVA at age eight. 

After Paul was first diagnosed, his younger brother, Tony, was afraid to be near him – worried that a rare disease would spread to him. After Tony overcame that fear, he wanted to be like his big bro (like any younger sibling) and began wrapping his foot and limping like Paul. When Paul and his parents fly to Boston to see his doctors, Tony stays with their grandparents, so he has a special event too. 

Not much is known about FAVA; in fact, when you type ‘FAVA’ into Google, the results are almost exclusively related to the legume. FAVA was first recognized in 2014, only two years before Paul’s diagnosis! The disease is characterized by fibrous fatty tissue overtaking muscle and vascular anomalies. Many doctors still don’t know much about FAVA. For example, Paul must go to the ER every time he has a fever above 100.4 degrees Fahrenheit, and he teaches the ER physicians about FAVA. This must be incredibly frustrating and disheartening when Paul, a child, must explain his disease to doctors. The current treatment options are limited: cryoablation, sclerotherapy, surgery, and medication (Sirolimus). Surgery and cryoablation are not options for Paul because of the location of his FAVA. The risk of damaging nerves and losing function of his foot outweighs the benefit. Chloe described an encounter with a physician who mentioned amputation. He spoke about the procedure nonchalantly, but it was a scary moment for her. Paul is very involved in his medical decisions, and they decided that Sirolimus, an immunosuppressant, is the best option for him. It helps his pain and swelling immensely, but when I first spoke with Paul, he had started weaning off the medication. Recently, I heard from Chloe that he completely weaned off, but the pain returned in just two days without Sirolimus. They tried alternatives such as CBD lotion and Biofreeze, but the pain remained. After 10 days, Paul couldn’t put any pressure on his foot, his limp returned, and he had to abstain from all activities that required standing or walking. The pain was unbearable, so he restarted Sirolimus. In addition to his FAVA treatment, he sees a therapist to manage the life changes that have resulted from FAVA. Although the medication provides relief, Paul and his family know that the pain and swelling is likely to increase as Paul ages unless new treatments are found for FAVA. Despite this knowledge, they remain very positive and do their best to further understanding of FAVA. 

Paul is very involved with raising awareness and fundraising. He gave an educational speech to his school, held a lemonade stand fundraiser, and is currently working on a larger fundraiser with a friend. Still, Paul only likes to tell people he trusts about his FAVA. He doesn’t initially tell his soccer coaches because he fears limits on his playing time despite his soccer ability. Paul has connected with a few people that have FAVA, and he shared with me how nice it was to talk to people who truly know what he is experiencing and who are able to empathize. To further facilitate connection between FAVA patients, Chloe started Project FAVA. Her goals are to establish a central location for FAVA patients to share information about research, connect with others, and to empower the FAVA community. She also shares a list of providers across the United States who have worked with FAVA patients in order to help others reach a faster diagnosis and receive the best care. There’s ongoing research in other countries for a PIK3CA inhibitor for PIK3CA Related Overgrowth Spectrum (PROS) patients, and FAVA is on the PROS spectrum. Hopefully, research will begin in the U.S. specifically for FAVA patients and PIK3CA inhibitor treatment. Paul’s family remains optimistic, driven, and of course, Paul continues playing soccer and pursuing his dreams of playing for Manchester United. 

I am incredibly grateful for the opportunity to learn from Paul and his family. Through our conversations, I’ve realized the impact of rare genetic disease not just on the individual but the entire family. Having a rare disease can be incredibly isolating. Whether it be not knowing others with the disease, not seeing your disease on Google, or that even doctors don’t understand you. I recognize that doctors can’t know all 7,000 rare diseases, but 25 million individuals in the U.S. are affected by a rare disease. After speaking with Paul’s family, I believe it is imperative for physicians to recognize patterns, more frequently collaborate with geneticists, and be able to provide resources or referrals to patients. It is my hope that in my Genetics Student Interest Group, we can collaborate with other specialty groups such as orthopedics, neurology, etc. to show medical students the importance of genetics and rare disease in ALL fields of medicine and to reach a larger number of students. Another take away from my conversation was Chloe’s fear of amputation and importance of discussing a drastic procedure with patients sensitively. Even though some physicians consult for radical procedures frequently, and thus the topic becomes normalized for the provider, hearing about these medical interventions for the first time is shocking for patients. I will remember this throughout my career and always try to understand the patient’s perspective and ask how they feel about their treatment options. 

I’m in awe of Paul’s resilience. He faces a great difficulty as a child but maintains a positive attitude. His dedication to play soccer despite the pain and swelling is incredible. His ambition to educate others and fundraise for FAVA is inspiring. I am also impressed with Chloe’s persistence in finding an accurate diagnosis for Paul and her drive to improve the healthcare experience for other FAVA patients. The long diagnosis process further complicated an already challenging journey. I am so appreciative for the opportunity to learn from Paul, and I hope Paul and his family are able to speak to our Genetics Student Interest Group. I look forward to staying in touch with Paul, learning more about his journey, and hearing about his soccer pursuits!

*All patient identifiers have been changed to protect the privacy of the patients and their families according to HIPAA.