Diseases Without Doctors

Globally, there are 350 million people suffering from 7,000 different rare diseases. It takes an average of almost 8 years to get correctly diagnosed, countless visits to doctors and emergency rooms, unnecessary tests and surgeries, money and years of uncertainty and anguish. When I first started the rare disease journey with my daughter, Olivia, I got lucky. When she first presented with the hyper-pigmented skin that signifies HI, I took her to her pediatrician. He examined her, gave me a perplexed look and said, “I don’t know.” Those three words probably shortened Olivia’s diagnosis time by years, since at the time she had no other indications. Then he did something even more startling, he didn’t charge me for the visit. Oh, if only we on the rare disease journey could have more pediatricians like Olivia’s. Instead of dismissing us, which happened often enough over the past 15 years or making us think we are crazy, why not just say “I don’t know,” because most don’t know.

How many of us have become the “doctors” for ourselves or our children? How many of us tell the doctors what is the best treatment for us or our children? How many of us know our disease so well we could present it, posing as a specialist, to a room full of doctors who would never be the wiser that we never attended medical school?

Rare diseases are truly diseases without doctors, but there is hope. They have us; the patients and the parents to guide them. They just need to be willing to listen.

Recently, Olivia sprained her ankle very badly. It was a Friday night so I took her to the local children’s hospital. We were seen by a young doctor with a student in tow. Since Olivia was diagnosed, given the opportunity to be speaking directly to someone in the medical field, I teach. I point out the different characteristics of Olivia’s disease. Since she is 1 of 300 reported cases in the United States, I tell them they are unlikely to ever see HI again. Most humor me and listen, though I suspect they don’t like being “taught” by a soccer mom. Well, on this particular night as I began to explain HI to the doctor and student, I was abruptly cut off. Not interested! Oh well, I tried. The doctor later came back to give me the results of Olivia’s x-ray and I gave it another try. The doctor pointed out that there are other diseases that present with hyper-pigmented skin that are not that uncommon. He said,”There is a disease that is not that rare called, uh, uh……” I said,”Neurofibromatosis.” He nodded. I shook my head in dismay. While there are some doctors well-versed in certain rare diseases, there are not enough! Rare diseases remain diseases without doctors.

*This was written a few years before both my girls were diagnosed with Ehlers-Danlos Syndrome. Not enough has changed. This issue needs to be addressed first in the medical schools. It is impossible to teach 7,000 diseases. So we don’t teach the diseases, we teach about the patients. I am so honored to be part of the Beyond the Diagnosis Art Exhibit. It is innovative. It is effective. It is unforgettable.


Patricia Weltin
Patricia Weltin
Patricia is the Founder and Executive Director of Beyond the Diagnosis, a registered nonprofit providing art and science to inspire research and innovation of treatments for people living with orphan and neglected diseases. Beyond the Diagnosis began working on a project to increase research and raise awareness of rare diseases within the medical community through art. Professional artists paint portraits of children living with a rare disease; the portraits then become part of a traveling exhibit for medical schools, research institutes and hospitals. Our Beyond the Diagnosis art exhibit was first unveiled at Brown University's Alpert Medical School for the entire month of February 2015 in honor of World Rare Disease Day. Demand for this unique exhibition has increased 500% in the past three years. The exhibit continues to grow and inspire both the medical community and researchers to increase e orts in rare disease research and treatments. This exhibit has also touched the hearts and minds of the general public. Since the debut, Beyond the Diagnosis has visited the NIH, Broad Institute, Hofstra Medical, Harvard Medical, the FDA and many more. The exhibit currently consists of 100 portraits representing children living with rare and undiagnosed diseases. With your patronage, Beyond the Diagnosis will continue to grow, increase rare disease education in medical schools, increase research at some of the world’s leading institutions, create new conversations about rare diseases and bring hope and joy to the rare disease community. Patricia, the mother of two children with Ehlers-Danlos Syndrome, began working in this space by creating a new business model of working by state. Her award winning work in state-level advocacy grew to national advocacy efforts. Today, Patricia proudly works to successfully use art as a powerful tool to create awareness and increase innovation into orphan and neglected diseases.

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  1. Patricia, first please let me applaud you for being so strong and determined in the face of such difficult odds. You did not allow yourself to be dismissed, you did not take “No” for an answer, and you continue to “teach the learned.” There are wonderful doctors who will work with their patients, but some need to awaken to the Power of the Patient. As a 3x Breast Cancer survivor whose dreams diagnosed what the medical community and the tests on which they relied missed each time, I know how difficult it can be to speak with them. My dreams were validated by their pathology reports which did get their attention. And Breast Cancer is not even a rare disease. But, 30% of women are misdiagnosed. Like you I became an E-Patient and have been telling every doctor I meet about my journey, and even co-wrote the book, Dreams That Can Save Your Life. with Duke University Medical Radiologist Dr. Larry Burk. Your story gives the rest of us reassurance that yes, we can be strong, too. Thank you!

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