Agnes Premkumar 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, Agnes 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 Agnes.

The chime of the doorbell echoed as I readied myself on the lemon-colored doormat to meet Mary. I had received Mary’s contact information two weeks earlier and we had eagerly corresponded through email and anticipated our first meeting. Her kindness and approachableness were evident in the emails that we sent back and forth. I was eager to learn more about her life. She had mentioned her rare disease in her emails, but I had not heard of the disease and decided to rely on our in-person meetings to learn about it. 

The very first three months of medical school served as my gateway to learn about various rare diseases. My biochemistry and genetics professor was passionate about advocating for patients with rare diseases and their families. Each genetics lecture was intermingled with videos, patient visits and case studies of families profoundly affected by a minuscule aberrant protein or biochemical process. These tie-ins helped establish the relevance of the numerous biochemical pathways that we had to commit to memory. More importantly, these small glimpses allowed me to learn about a community hidden in the shadows of healthcare. Various patients spoke about misdiagnoses, misunderstandings, and hurt suffered at the hands of physicians who did not have the time to listen. As aspiring physicians, my peers and I are taught to categorize common symptoms and presentations for each disease for easier diagnosis. But this often interferes with our ability to hear each patient’s unique life story. As I stood in front of the forest-green door decorated with a cheery welcome plaque, I wondered if Mary had experienced similar emotional scars from doctors. I hoped to be nothing more than an eager new friend, without my “physician” lens of symptoms and possible diagnoses. I hoped to hear her story.

Mary opened the door with a huge smile on her face and said, “I’ve been expecting you.” I quickly followed behind her and her cats, Ruby and Smoky. Both perched unabashedly on the railings of her walker. Mary and I instantly struck a conversation, shared about our lives, and were excited to learn of our numerous similarities and shared interests. We both grew up in the same neighborhood within the San Fernando Valley, California. We both are passionate about music, play piano and guitar, sing, and are rooted within our local churches. We were also astonished to discover that Mary was best friends with and worked closely with one of my favorite Christian artists. Our 42 year age gap did not prevent us from becoming fast friends. 

Mary was born to Robert and Susan in 1955 with multiple orthopedic issues and birth defects; she had bilateral clubfeet and dislocated hips and knees. Two surgeries were performed immediately after her birth to correct her hips and knees. The narrative present around each doctor’s appointment in the past was the idiopathic birth defects that required regular orthopedic surgeries. She underwent more than twelve surgeries during her childhood years to remedy her knee dislocations and clubfeet. She recounted the dreary isolation and fear that accompanied her childhood hospital stays. Despite the numerous surgeries, the surgeons could not restore her knee to the “normal” positioning. This led to her slightly off-balance gait and prompted her to use a cane for balance. Her parents believed that her medical conditions, by no means, should limit her education and encouraged her to keep pursuing her dreams. Mary notes that there were few resources, equipment, or support groups for the disabled community. She faced bullying and ridicule from her school peers for her constant absences from school and her gait. Mary admits that her teenage years, in particular, were challenging. She struggled with mental health issues, low self-esteem, and lost her mother to ovarian cancer. However, her family, and especially her younger sister, served as her refuge. They encouraged her to be herself and find her self-worth in her talents and qualities. She attributes her father with teaching her that her identity did not come from her dislocated extremities. Her identity was hers to shape. She clung onto this advice, built her self-esteem, and found her love for music and art.

It was her love for music that eventually helped her to form a new community and changed her life trajectory. When she was in her 20s, she met an up and coming new artist, David, describing him as one of the nicest and most genuine people she has ever met. She proudly recounts that, through their friendship, she was able to challenge herself emotionally and spiritually. Her self-esteem grew, she came to love her scars, and she created strong friendships with people who always encouraged her. She soon became a Christian and became deeply involved with David’s ministry. She still had trouble walking and underwent numerous doctor’s appointments, X-rays, and procedures through those years. Unfortunately, she also had her share of curt physicians who left her confused and unheard. She relied on outside sources and textbooks to fully piece together and understand the changing bits of information she received each visit. This slowly made her in control of her health; she took recordings and copies of physician reports to catalog her story and treatment plans. But her new-found community of friends made hospital stays vastly different from the dread she experienced as a child. They helped her make sense of her procedures and stayed by her side through it all. Each clinic and hospital visit had molded her to become extremely detail-oriented and organized. And Mary quickly found her place as an event coordinator overseeing David’s tours and marketing campaigns. 

She thrived as she engaged with her interests; she took trips to Disneyland, traveled on cruises, and regularly interacted with her young niece and nephew. Everything was going well until she received a text message from her sister three years ago. Her sister had sent her a picture of a girl that had an eerie resemblance to Mary. She was taken back; it could not be a coincidence that she shared her short nose, flat nasal bridge, and long index finger. Mary had always wondered why she looked different from her parents, sister, and other relatives; no one quite seemed to have the same type of nose that she had. The girl’s picture was linked to a genetic website providing genetic screenings for interested individuals. At the advice of her sister, she made an appointment with a local geneticist. Mary recounts that as soon as the geneticist opened the door and glanced at her, she exclaimed, “you have Larsen syndrome, don’t you!” That appointment changed Mary’s entire identity. And she instantly found the answers to questions she never even considered. Her persistent orthopedic problems were due to a genetic mutation in a gene coding for filament B, an essential protein in joint formation. Even her reduced hearing was due to malformations in the development of the tiny bones, ossicles, in her ear. She now belonged to a new community: people with Larsen syndrome. Through social media, she connected with fellow peers with Larsen’s from around the world, many who looked like her. Her next challenge was accommodating and integrating this new part of her identity. 

She took this new piece as a blessing; it allowed her to counsel and advise other patients with the wisdom she has gained throughout the years. I was delighted to hear that many teenagers now rely on her advice and encouragement in building their confidence and being unashamed of their orthopedic scars. Another common concern within the Larsen community is the identification of the syndrome as a “relatively benign syndrome.” People with Larsen’s have discussed the unfair expectation held for them to be thankful that their disease was not more severe, like other rare diseases. For Mary, this is a rather disappointing point of contention; the terminology minimizes the hardships she faces and does not allow for the celebration of her success and achievements. Even many healthcare professionals, she says, have the mindset of “benign” and “severe” disease classifications as they speak with her. While it is easy to understand the background behind such types of classification, it is imperative to expand the narrative to include more than an arbitrary grouping of disease, especially since each individual is incredibly unique in their upbringing and circumstances.

She continually reminds me that her next project will either be to create a book or an online blog to catalog all the lessons she has learned, including the unique hacks that she has devised for people who experience physical challenges. Her notebooks are bursting with tips and ideas on everything from showering in a seated position to ordering food online. Since her diagnosis, the Larsen online support groups have served as her way to lessen the burden that other people might face in adjusting to their diagnosis. Moreover, she has also gained valuable counsel from her online peers on home remedies for sore legs or easy do it yourself projects for more ergonomic seating. The small conversations with people around the world who are facing similar obstacles have reassured her that she is not alone and is well supported. 

Mary jokes that she has hundreds of screws hidden deep within her body, physically holding her together and forcing her to live each day to the fullest. She currently lives alone with her two cats but also has constant visits from her family and friends. She fills her days by playing music, writing, watching movies and documentaries, connecting with her numerous friends, and being active on various Larsen platforms. Water aerobics is another hallmark each week. It rejuvenates her physically and reduces her joint pains. The recent advancements in technology have also removed many of the challenges faced, such as food preparation or transportation, through online grocery shopping platforms and accessible entry points and ramps. She recently went through a left hip replacement and is using a walker as she regains strength. She also began using a hearing aid on the right ear two years ago. Her calendar continues to be filled with appointments with her orthopedic team, cardiologists, other specialists, and physical therapy. Despite her hectic schedule, she always has time to share her life story.

I will soon add the title “doctor” to my own identity. Soon, I will have the privilege of entering into a room and meeting a patient at their most vulnerable period. Each encounter will not entail sufficient time to learn their full life story. Meeting Mary has taught me that hearing the patient’s concerns without assumptions is crucial in establishing trust. To put this concept into practice, I am working with a local hospital to create a program where medical students can spend time with lonely patients. In-turn, medical students can improve their listening and communication skills. My visits with Mary have motivated me to expand the narrative around rare diseases. This academic year, I will be involved in a social support group for medical students with chronic or hidden illnesses. Sharing their unique difficulties and supporting others who share can be vital in improving the discourse and expanding the narrative surrounding rare diseases. This will be the first step in many encounters and programs that will be organized to boost awareness and highlight not only the challenges, but the joy and fulfillment people have found as they come to terms with their illness and overall identity.

If my numerous visits and conversations with Mary have taught me anything, it is that a person’s identity is not their diagnosis. Mary’s beautiful life thus far can not and will not be captured with the words “Larsen syndrome.” The communities that she has built allow her to be a friend, sister, daughter, aunt, musician, teacher, writer, and so much more. I believe that medicine should be and soon will be capable of capturing the whole individual. After all, health is multifaceted and contains everything from emotional health, spiritual health to social determinants of health within the community and environment.

*All names and identifying data have been changed, in accordance with HIPAA policy, to protect the patient and family’s privacy.

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