RARE Daily

Reconciling Uncertainty and Family

January 25, 2023

Neurofibromatosis type 1 (NF1) is a rare genetic multisystem, progressive and incurable disorder that causes highly variable and unpredictable symptoms; the first rare disease I was exposed to long before medical school. As a condition without parameters, there is a lot of uncertainty in caring for a loved one with NF1 and, it is in these moments of suffering and pain, we feel most human. I saw it first with my parents struggling to receive a diagnosis for my sister, the beating heart of our world. I realized the responsibility I had not only in caring for her but for all people with rare diseases. It is this same compassion that fuels me to place each patient at the heart of medicine with a humanistic care-centered approach. Now I face it in a career that will directly weave and traverse through some of the most difficult times for patients and their loved ones.

I entered medical school appreciative of the complexity of the human body but also with a vision of caring for the whole person. I wanted to understand the social determinants of health (SDH) to comprehend the biological causes of disease; these together would enable me to care for the patient in their entirety. Unfortunately, I quickly learned that human health was not our default setting, that SDH was not a focus area, and that the medical education system was configured to pass on the rigorous scientific information I needed to be a successful physician; it was never meant to teach me how to serve patients as people. In learning the normal pathobiology of disease, I was provided with little to no knowledge of rare diseases. I understood that the system was flawed and that it was insufficient to equip me with the skills needed to care for rare disease patients.

Motivated to interact with patients beyond medical school, in 2021, I launched my own podcast series, “Behind Diagnoses: Patients”, with the aim to hear about the challenges patients with chronic illnesses, disabilities, and rare diseases faced tackling the healthcare system. That same year, I came across the Rare Compassion Program (RCP), an opportunity to take my learnings even further, to consider intersectionality in caring for patients with rare diseases, and to challenge the biases I had.

In the subsequent months, I visited the perspectives of parents, a wife, the woes of a mother, and the ambitions of a young woman, all connected to a rare disease. I was humbled by the care between rare patients and their family members, and my heart resonated with theirs when they spoke about their loved ones.

During rotation one, I was welcomed by Fatima and Ali, the parents of Moosa, a 5-year- old boy with medium-chain acyl-CoA dehydrogenase deficiency (MCADD). MCADD is an inherited disorder that prevents the body from breaking down certain fats and converting them into energy. As a result, Moosa requires frequent feedings with adequate calories from complex carbohydrates to maintain blood sugar and avoid hypoglycemia. When he was days old, his parents received a call from the newborn screening team that he had MCADD. As new parents, however, they were not prepared for the metabolic crisis their son experienced. “His eyes went dark, and he did not respond, he suffered from the seizure-like activity and breathing difficulties. I’ll never forget that day” his mother told me. Caring for a child with a rare disease was already challenging with the many unknowns and the unpredictable way incidents could occur.

This sentiment was reinforced in rotation two, where I met Victoria, a mother in her fifties who struggled for years prior to receiving a diagnosis. As a medical mystery, she was offered little hope of relief from health professionals, even though she was certain that Relapsing Polychondritis (RP), a rare degenerative disease characterized by recurrent inflammation of the cartilage in the body, was responsible for her suffering. “I’ve been through it all, medical dismissal, misdiagnoses, and even being called “Dr. Google,” she told me. Due to how rare (3 in a million) RP was, doctors opted to search for other diagnoses. However, when she received the official diagnosis confirming RP, she was relieved to have a name for her condition but disappointed in the system meant to care for her. All the literature available at that time showed a 10–15-year survival rate from diagnosis. As a rare mother that was super scary as she had young children. “I wanted to be around for much longer than 10-15 years.” I realized the importance of listening to hoofbeats and being open to zebras as part of the differential diagnosis, and that care coordination among teams is essential to avoid duplication for an already sick and struggling patient.

The same frustrations expressed by Moosa’s parents and by Victoria were also echoed during rotation three in conversation with Lucía, a 26-year-old living with Fanconi Anemia (FA), a rare genetic disorder in the classification of inherited bone marrow failure syndromes. “My parents were devastated when they received my diagnosis at birth because of my missing thumbs bilaterally, especially given the low survival rate for FA patients in 1996,” she told me. As a registered nurse, Lucía practices at a hospital caring for hematology-oncology and palliative care patients, and lives on her own, three hours away from her parents; a very unusual occurrence for people with her condition. At university, all her multiple secondary diagnoses developed, one of which was pre-ovarian failure where she was denied egg retrieval. “Coming to terms that I may never be a mother, it’s like life snatched the gift of starting my own family away from me”. Accepting this was very tough as she wants children one day, and most men, she’s dated wanted biological children.

The worries that come with sharing a life with another were felt during rotation four with Anna, a 59-year-old wife living with Hypermobile Ehlers-Danlos Syndrome (hEDS), an inherited connective tissue disorder caused by defects in a protein called collagen. “I feel frustrated to be in this condition, almost as if a burden to my husband. I’m so fortunate that he’s built his life around mine, and constantly finds ways to make my life easier living with a wheelchair”. She too, like Victoria, was not listened to at the hospital, nor was the intensity of her pain acknowledged. As a nurse educator and disability case manager, Anna’s clinical experience gave her an upper hand in that she knew exactly how health professionals think about patients in her position. She’s fortunate to have a pain specialist who understands her, who’s willing to listen and say, “I don’t know”. I saw how she took ownership of her own care and brought her provider resources and up-to-date guidelines. At the same time, Anna expressed her frustration coordinating her own care among multiple specialists, “I just wish they’d speak with each other” she told me, emphasizing the need for cross-collaboration among specialties for rare disease patients’ care.

Through the encounters with Fatima & Ali, Victoria, Lucìa, and Anna, as well as my interactions with patient advocates at the 2nd Annual RARE Health Equity Summit in Atlanta, I witnessed the compassion of families who in the face of insurmountable circumstances continue to deliver the highest quality of life they can to their loved ones. I’m deeply inspired by the first-hand exposure to their lived realities and the endless hope these patients and their families have in their pursuit of healing. This experience has proved invaluable as my connection to the rare disease community is both personal and professional and advancing health equity for these patients does not happen in a silo or vacuum; it requires a team effort and meaningful partnerships as well as listening, learning, and acting with intention. It comes with investment toward impact from healthcare providers, patients, and members of the community, all connected by one passion; to improve the lives of people with rare diseases.

As a physician, my role will be to not just provide clinical information to patients but also to integrate the family, appreciating the diversity of rare disease patients. I feel empowered to take these lessons learned from the rare disease community and to apply them to broader compassionate care interactions; that of a partnership based on shared decision-making, not a list of directives for patients to follow. I feel invigorated to care for my future patients as their ally and as an advocate supporting them on their journey. I know that there is beauty in the unknown in medicine, and our willingness to persevere despite it, it’s what connects us as a community. In my personal journey, I have experienced it with my sister, and that inspires me to help get others like her, the RARE compassion they deserve. Above all, what I will take with me is that it is essential to have a comprehensive grasp of the human condition and cultivate the emotional means to serve with dignity and compassion.

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