Narration in 90 Seconds

Narration in Ninety Seconds: The "Art" of collaborative story-telling in rare disease advocacy

By Paul & Carl--Caregiver, care provider, father & physician

"Clara's World" by Melinda Habingreither (from EveryLife Foundation's RareARTist Program)

"My granddaughter Clara is watching the ocean from her wheelchair. Clara is nonverbal, but communicates with her expressions & enjoys the world around her. She can't say how she feels about the sight & smell of the ocean or the sea air on her face, but we know by looking at her. We're blessed to have this sweet child with her smiles and giggles in our lives. Clara is 6 & has GM1 gangliosidosis, a progressive, incurable, fatal disease, but she doesn't know it. All she knows is that she's very loved."

GM What?!--Research-scientist "Medical Gaze" Narrative:

I first "met" the GM1 ganglioside while working as an undergraduate research assistant in the cochlear anatomy lab at the University of Minnesota. My duties over the first two years had transitioned from assisting with bench-top research (i.e. washing dishes) to being "the photography guy." A senior researcher would take photos of sectioned tissue through either the light or electron microscopes and I would develop the black & white film (color film was sent out) in what became my own personal dark room. I felt more like an artist than scientist, creating contact plates and publication prints as well as delicately hand-stenciling every letter, arrow and scale marker in the pre-digital/pre-Photo Shop age. The GM1 ganglioside study, however, offered me the opportunity to conduct actual research because I knew how to do high performance liquid chromatography, a technique needed to extract lipids. This was my opportunity to co-author a publication that would enhance my application to medical school. In preparing the final draft, I assisted in writing the introduction. We noted the reported association of the GM1 in multiple sclerosis and with deafness in a rare disease called infantile GM1 gangliosidosis.

GM What?!--Parent/Caregiver Narrative:

I first "met" the GM1 ganglioside when a neurologist notified my wife and me about genetic test results on my son. It seemed like forever since we started trying to find out what was wrong with Jordan. Initially, I had tried to convince my wife, and myself, that there was nothing wrong. Doctors tended to support the idea that he was just a little slower in reaching milestones and was just a little clumsy compared to other children. When his speech changed there was a whole slew of possible diagnoses. Each diagnosis gave us hope that we had finally figured out the problem and we could get down to treating Jordan.
Nothing prepared us for the devastating news that, due to a mutation he received from my wife and I, he had GM1 gangliosidosis. My only son, we were told, was not going to survive childhood and that there was no treatment or cure. We were informed that he would lose the ability to walk, to eat, and his voice would gradually be silenced. I remember thinking the day would come when he would not be going to baseball games with me anymore. He was not going to graduate high school, go to college, or get married. I regretted the times I scolded him for talking too loud in church or running away from me while at the grocery store. Our lives became consumed by appointments with various therapists and doctors. The goal of physical therapy and speech therapy is to slow the decline rather than to restore him back to normal. Things will remain stable for periods of time, then a "set-back" occurs that never is followed by a return to baseline. This horrible condition saps much of our energy at times and tests my faith, but it never takes the spirit and courage out of Jordan, my hero. He still smiles, laughs and finds ways to get into mischief like any other little boy. The smell of his favorite foods lights-up his face as does being hugged or having his cheek patted.

The 90 second "elevator pitch"--Physician-scientist perspective:

During Rare Disease Legislative Advocates Week we are asked to prepare a ninety second "elevator pitch" for our meetings with our representatives and senators. It is an overwhelming task to convey our personal story while working in the legislative "ask." I opt to open with a reference to the clinical reality of my experience as a physician. Therefore, I say, "what's rare is common," to convey the message that one in ten people has a rare disease, defined as conditions affecting less than 200,000 people. A primary care physician typically has greater than 1000 patients in their panel, so at least 100 will have a rare disease. Listening to my fellow advocates list their, or their loved ones, conditions drives home this point--scleroderma, pemphigus, cystic fibrosis, Hodgkin's lymphoma, myasthenia gravis, Duchene muscular dystrophy, sarcoma, and Ehlers-Danlos syndrome--all gathered together in this tiny virtual world. Naturally, I don't treat all these particular conditions all the time, or ever, but I have many patients with one of the 7000 known rare diseases. For years I did research on arrhythmogenic right ventricular cardiomyopathy (ARVC), a genetic condition I had never heard of prior to being offered the opportunity to go "gene hunting" over twenty years ago.
We are all gathered together to tell illness narrative aliquots from different perspectives--patient, care giver, nurse, doctor--and plead for help from our elected officials in a thirty minute session. Our "asks" are to co-sponsor bills to reauthorize the Newborn Screening Act, the Access to Genetic Counselor Services Act, Speeding Therapy Access Today (STAT) Act and the Better Empowerment Now to Enhance Framework and Improve Treatments (BENEFIT) Act that allows patient experience data to be included in the FDA risk-benefit assessment process during drug approval. I need to be cognizant to protect the privacy and confidentiality of my patients and former research subjects while my colleagues are forced to forgo their privacy to scream their stories for all to hear. For me, my task is trying to find the common denominators in all their stories and tell them from a physician or researcher perspective. This is probably the most effective narrative I can tell, but I don't know. Despite the pain and suffering I hear, these people continue to experience joy and happiness in their lives. This provides me a healthy dose of resilience and gives my long-forgotten GM1 paper new meaning. I'm left with the thought that maybe I helped put one small piece into the GM1 jigsaw puzzle.

The 90 second elevator pitch--Caregiver perspective:

As a father and care giver, knowing what to say and how to say it is challenging. I worry that I'll be asked about specifics of the bills and I won't know the answers. The whole process seems all or nothing for bills that will only improve but not eliminate the difficulties we all deal with. I need to tell my story without emotion. Choking up would be a disaster. There are six bills and I could talk for hours on how each could help my situation. I realize that even if a cure was discovered today it would be too late to return Jordan to how he was. Still, new gene therapy trials or other treatments may prolong the inevitable and give us more time with him. I think my involvement in advocacy is as much to make me feel useful and normal again than anything else.

Allowing Yourself to Be Educated--The Non-Expert Narrative

That issue of not knowing answers to legislators' questions regarding bills is the same for me. In fact, I almost feel like I'm expected to be "the expert" in the group when I know from personal experience, patients and care givers with rare diseases know more about the disease than their doctors do. As I noted earlier, I hadn't heard of either GM1 gangliosidosis or ARVC until I was presented research opportunities. I've heard from many in the rare disease community the frustration of having to teach their providers about the disease. Admitting that one who is expected to know all, knows nothing, can undermine trust in the doctor-patient relationship. However, I tell my colleagues that our training provides knowledge beyond the specifics of an ailment that is valuable and working collaboratively as a team where the patient is at the center is how we approach even common diseases.

Patient/Care Giver as Teacher

Yes, we do have to "train" many about the nuances of GM1 based on our lived experience. Outside of the therapists we tend to interact with specialists here and at NIH but sometimes we have to see a GP that doesn't know about GM1. My wife and I have to be advocates even in the doctor's office, which can come off as being pushy.

Expanding Narratives--Telling a Complete Story

Together, we began with a grandmother's visual narrative, a drawing of Clara, augmented by a brief written narrative from the caregiver perspective. Art can be therapeutic and a means to "fill-out" the story that advances the advocacy mission by educating and enlightening the unfamiliar. Children, in particular, find ways to express themselves using art that reveal both their worries and concerns as well as their joys and dreams that demonstrate a being beyond their illness. In addition, EveryLife Foundation has started an online competition called, What's Your Story?, for the rare disease community. One of the three winners told a story of posthumously having her brother's genome sequenced that identified him as the 106th person with a condition called, ironically enough, Jordan's syndrome.

"Happy Flowers in Tall Grass" by Ella Palinchak, a child with Alagille Syndrome

"I made my artwork with washable paint and plastic forks. The forks dipped in paint made dimensional shapes that reminded me of happy "flowers". I added my favorite colors to the canvas and enjoyed placing the fork carefully to create juxtaposed patters on the green canvas. As a young rare artist, I hope to encourage other children to find creative inspiration daily, always express yourself positively and never be defined by your medical needs. Choose to celebrate the gift of life. I smile bright, laugh myself silly and cherish the unconditional love of my family and friends. At the age of 18 months I was given a second chance and received a life changing organ transplant. My family and I are forever grateful for the selfless gift of my unknown child organ donor/donor family. This painting is a tribute to her/him."