Listen to the Zebras: Observing Rare Disease Day

by Angela M. Pokorny

     Given that the date of February 29th only happens during a leap year, most people would find the decision to make it an annual day of awareness rather odd.  However, this could not be further from the truth. In my humble opinion, because this date is rare, it’s a smart choice. February 29th is Rare Disease Day, founded by the European advocacy group EURORDIS. However, rare disease advocates would never settle to only honor those who fight for their lives with diseases that are underfunded and overlooked every four years. Therefore, Rare Disease Day occurs on the last day of February each year. 

     There are two ribbons to show support for Rare Disease Day, and, as someone who has a rare disease herself, I rock both of them on my graduate school of social services sweatshirt. The first one is a denim ribbon for rare genetic diseases (Get it? …Jeans? Ha! …I knew you would!), and the second ribbon sports a zebra-striped pattern. The latter was inspired by the popular medical phrase: “When examining a patient’s symptoms, it’s better to think of a horse rather than a zebra.” But what if that patient IS the occasional zebra? It’s the perfect example of the oppression rare disease patients face, and the perfect choice for an awareness ribbon.

Story of a Zebra

     In 1987, I was born with a rare disease. My diagnosis came in 2010. The disease is called trimethylaminuria (“TMAU” for short), and it has one defining symptom: smelling like rotting fish. 

     Living with the symptoms of this unprecedented illness, my childhood, adolescence, and half of my undergraduate experience were filled with confusion and anxiety. Since I couldn’t smell myself, I thought that I was going crazy. Wherever I went, I would hear the following: “Ew! It reeks like fish in here!” or “It smells so bad! I’m gonna puke!” When inquiring about my strange experiences, my supportive mother and I were dismissed by most clinicians. During my years of grief, I was angry at their ignorance. Why couldn’t they have just listened to me? Now, in the wake of peace and forgiveness, I understand; I was a zebra, and the clinicians I reached out to only treated horses. My story is not unique, however, and in the hopeful dawning of a new era for healthcare in the United States, all stories of TMAU sufferers must be heard. 

Living with Trimethylaminuria

     A person with TMAU lacks an important enzyme in the body. In short, this particular enzyme is responsible for oxidizing the blood following the consumption of foods containing choline. With the exception of water, all food and drink contain a percentage of choline. Choline is a vital nutrient for brain development, liver function, nerve function, muscle development, and metabolism support. Therefore, in addition to the ridicule, isolation, and low self-esteem, those with TMAU who follow a low-choline diet may also suffer from malnutrition and organ failure. 

     To adapt and to move forward for survival, I learned how to listen to my body during my teenage years. Prior to learning my diagnosis, I noticed that the reactions to my smell lessened if I didn’t eat much that day, as well as on days when I exercised until sweating profusely (after showering, of course). However, the unavoidable insecurities, self-medication, starvation, and excessive exercise controlled my life. I began to feel alone and hopeless, and all social workers know what loneliness and hopelessness might lead to.

     As there is a lack of TMAU awareness within healthcare, I pay for and research most of my own treatments. I’ve had to explain my disease to doctors, therapists, specialists, nutritionists, and other professionals. This is what led to my desire to be a social worker. I realize that my privileged access to the appropriate resources is what allowed me to resurface from the hell of TMAU. These resources have allotted me the opportunity to go back to college and become the informed social worker I needed as a child. Every TMAU patient deserves an opportunity like this.

     Now, as a woman in her 30s, I do my best to live a healthy lifestyle: I exercise with sauna therapy, take chlorophyll supplements to promote blood oxidation, avoid high-choline foods (i.e., egg yolks), use activated charcoal toothpaste, and wash with highly acidic soaps. By adapting these habits, I have been able to work in close quarters with others and work toward my graduate degree in social work. I even found the courage to participate in community theatre productions. However, the risk factor of not being under the care of a healthcare professional who is educated on TMAU still concerns me. As of now, I’m still worried that these clinicians are as rare as the disease itself. Social workers can change this!

What Can Social Workers Do?

     First, it’s important to know that TMAU does have an ICD-10 code! In 2015, thanks to tireless advocates, the World Health Organization officially recognized trimethylaminuria as a disease. E72.52 is the billable ICD-10-CM code for trimethylaminuria. Therefore, when a client walks into your office and tells a story that is similar to mine, it will be easier for you to advocate on their behalf. With consent, you can speak with their general practitioner or psychiatrist and politely suggest that, rather than assuming the client is endorsing a form of psychosis, the client may in fact be suffering from trimethylaminuria. Additionally, TMAU patients require therapeutic services. The complex traumatic experiences of trimethylaminuria patients are psychologically damaging. Speak with your TMAU client, listen to their story, and develop a trauma-focused treatment plan.

     There are approximately 30 million Americans living with a rare disease. Many of these diseases currently have no cure, including trimethylaminuria. However, with social workers advocating on their behalf, there is hope. It is no surprise that 2021 is a year many social workers are hopeful about. For me, I am hopeful that it will be a year when more social workers will be wearing both denim and zebra-striped ribbons. Especially on the last day of February.

Resources

EURORDIS. (2020). Rare Disease Day 2021 - 28 Feb - Article. https://www.rarediseaseday.org/article/what-is-rare-disease-day

Schmidt, A. C., & Leroux, J.C. (2020, June 29). Treatments of trimethylaminuria: where we are and where we might be heading. Drug Discovery Today. https://www.sciencedirect.com/science/article/pii/S1359644620302543

Angela M. Pokorny is a graduate social work student at Fordham University Graduate School of Social Services. She earned her BA degree in English literature from Fordham University in 2011.