At Least It’s Not Cancer

The other day at the market, I ran into an old friend. Our children had gone to elementary school together so, of course, we asked about each other’s children and college came up, which led to Olivia’s health. I explained a little about what was going on and she said something that I knew everyone thought, but few said, “At least it’s not cancer! It’s not like you’re at hospitals and doctors all the time.” Of course, as an advocate and a mother, I had to respond.

Only 1% of the 7,000 rare diseases have a treatment.

These statements hold so many common misconceptions about both rare diseases and cancer. Most cancers are rare and now that DNA sequencing is here, treatments for cancer will likely become targeted toward specific mutations as opposed to the location of the body. Cancer treatments will become more effective. Now let’s compare that to rare diseases. In the United States, rare diseases are defined as a disease affecting fewer than 200,000. There are 7,000 different rare diseases. This sounds like a lot, but if you consider the above statement about specific mutations for cancer, even more cancers will fall under the definition of a rare disease. Many rare diseases come with the risk of developing cancer, a double whammy. Olivia has had three tumors removed and biopsied, all benign. There are few cancers that don’t have some type of treatment available. Only 1% of the 7,000 rare diseases have a treatment. Try to imagine being told your child has a very rare disease and there are no treatments to heal them, but it happens all the time. No treatments, few doctors, fewer answers. With so many hoping for a cure, we are hoping for a treatment.

I would also like to point out that having a rare disease most certainly means many trips to many doctors many more times than I would care to count. Olivia’s doctors include geneticists, cardiologist, orthopedic surgeon, neurologist, neurosurgeon, ophthalmologist, rheumatologist, podiatrist, oral surgeon, maxillofacial specialist, dermatologist, pediatric surgeon, gastroenterologist. Then there is physical therapy several times a week.

Nearly half of all parents of children with a rare disease are accused of neglect, abuse, Munchausen Syndrome or all of the above. Many rare patients are labeled as drug seekers or as having a somatoform disorder. Because there are so few treatments, many people are forced to address the symptoms only, which usually include severe pain.

It takes an average of 8 years to get a rare disease diagnosis. Really? Just unacceptable. Olivia was diagnosed 15 years ago, she is now 18 and just got several new diagnoses, none of them good. So, it actually took 18 years for Olivia to be diagnosed correctly. This is how it usually plays out; Your child gets sick. You take them to many, many doctors for years until you finally get a correct diagnosis. There are no treatments. You hit a dead end. You start researching your child’s disease and you manage the symptoms while searching desperately for research studies and clinical trials. People think you are in the medical field because you become fluent in doctor speak, more fluent than any patient should be. More fluent in your child’s disease than most doctors. At times you become frustrated, hopeless, angry, sad, lonely, angry, tired, confused, and abandoned. The fact that angry is in that last sentence twice is not a typo.

All 30,000,000 people living rare have been set adrift to a cold, dark place. Getting the diagnosis of a rare disease most people can’t pronounce is distinctly isolating.

Another issue for rare patients is a lack of awareness. We can all recognize the pink ribbon as being the symbol for breast cancer. That kind of recognition brings in a lot of money for research. Wouldn’t it be great if Tom Brady wore a zebra ribbon during the Super Bowl and everyone who saw it would know its meaning? Wouldn’t it be great if someone would light up the State House for rare diseases or if P.F. Chang would paint their horses to look like zebras? We need awareness. We need funding for research. Right now, funding for rare disease research is abysmal. Someone once called rare disease patients “misfit toys.” At first, I was offended, but sometimes I feel like we have been relegated to “The Land of Misfit Toys.” All 30,000,000 people living rare have been set adrift to a cold, dark place. Getting the diagnosis of a rare disease most people can’t pronounce is distinctly isolating.

I think I addressed most of the misconceptions about rare diseases, but the factual errors didn’t really bother me that much. What stuck with me all day, what brought stinging tears to my eyes was the feeling that Olivia was somehow less deserving of sympathy and that because Olivia didn’t have cancer she was somehow better off. My heart broke for Olivia. I wonder if her friends or her school or her hometown may have rallied around her if she had cancer. Would celebrities and superstar athletes come to visit her at the hospital? These things aren’t even a consideration. I desperately want a treatment for Olivia. I also want people to recognize that Olivia is in pain. I don’t want pity for her. I want recognition that she is suffering, that she has given up so much, that her future will be filled with doctors and hospitals. Olivia doesn’t have cancer and she is not better off because of it.

This blog post isn’t meant to debate whether living with cancer is more difficult than living with a rare disease. It’s simply meant to point out that cancer sucks, but living with a rare disease sucks too.

Patricia Weltin
Patricia Weltinhttps://www.beyondthediagnosis.org/
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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Pre.Kaya' Gilkey

Dear sweet Patricia, I understand your agony but commend your boldness. My heart goes out to Olivia! I am 39 and have still not been diagnosed, hearing those same words when another tumor is found then removed, “at least it’s not cancer.” Life has been an array of doctors who jokingly say, “you’re a medical mystery,” and family members and friends leaving because since there hasn’t been a diagnosis-they believe I’m seeking attention or it’s all in my head. I have been blessed with a husband-through frustrated at times-still has my back and the greatest of all-peace of God within me. Olivia has a long road ahead of her, but she’s still here, she still has you! I’ve learned at a time when you would nothing more than “a village” around you, it’s comforting to have that 1 who stands tall above them all. I understand there’s more bad than good days; however, enjoy those good days as if they were the last. It takes the strength of a warrior to fight against a battle no one understands but the war is not lost! My prayers are with you and Olivia! Stay strong my friend, you are not alone!

Kat O'Keefe-Kanavos

Although modern medicine is advancing (somewhat?) it is still not the best at diagnosing. Once a diagnosis is made the advancements can be felt in terms of treatments, provided a disease is not rare. I did have cancer, three times, it was breast cancer which is not rare, and the doctors and the tests on which they relied missed it each time. My heart goes out to you and thank you for sharing your story.

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