It’s been almost thirty years since rare disease came into my life.
In 1986, I was living in the Berkshires with my family. My parents were successful real estate agents, on top of their game, and my sister and I had all the comforts a good life could afford. We had a beautiful house, we took family vacations, and we drove a Lincoln Town Car.
Then, Dad got sick.
One night, after he went fishing – his favorite pastime – he came home to find his ankles so swollen he could barely get his socks off. If he got too hot or too cold, his skin would erupt into itchy hives. His joints ached, twisted. Over the course of one winter, my dad’s hands went from long and straight to clawed and crooked, hardly able to hold a fork let alone make chords on his guitar.
At the age of barely six, I learned all kinds of phrases. Auto-immune was the big one. We knew that what Dad had was related to his immune system, but his doctors in Boston didn’t know which category to put him in. For a while we thought it was lupus. Then chronic fatigue syndrome. Then perhaps Guillain-Barre disease. There were so many potential diagnoses in those early days. I vaguely remember that his doctor flew some of his blood to Germany to be crystallized for a test, and that he had extensive genetic screenings done. It felt a bit like science fiction.
While we waited for answeres, my dad changed. I remember, a few years later, looking at pictures of him before his disease. My younger sister doesn’t remember him pudgy with thick black hair and big 80s glasses. His hair went gray, he became bent and rail thin. He shuffled like an old man and was often mistaken for his father when he was out with his brother. For me, it was like I had two versions of my dad: one before rare disease, and one after. We went bankrupt. We lost our home. We had to move to live closer to family for support. The emotional toll on my mother was – and continues to be -- tremendous.
One in Ten, One in a Million
We are by no means a unique family. Rare disease impacts 350 million people worldwide. And while you might not be able to recognize them by name, there are over 7,000 of them. To be classified as “rare” it must have fewer than 200,000 cases in the US. Cumulatively, those affected by rare disease make up 1 in 10 Americans.
For my dad, his rare disease is called hypersensitivity vasculitis, also known as Leukocytoclastic vasculitis, and has an occurrence of about 30 people per million, half of which are etiological. My father’s is not, which is why we often call him one in a million (even if it’s closer to one and a half, it doesn’t sound as fancy). But he also has severe rheumatoid arthritis in addition to his other complications like heart disease (he’s had two valve replacements and a double bypass).
And therein lies one of the largest challenges with rare disease. Cases are intensely personal, unique, and varied.
As someone who’s lived the ins and outs of the rare disease, I wanted to share some insight into what that life is like – for the patient and for the families involved.
For me, it was like I had two versions of my dad: one before rare disease, and one after.
Half of Those Affected by Rare Disease Are Children
If that’s shocking, unfortunately the statistics are even more grim. Thirty percent of those children will not live to see their 5th birthday. This makes sense given the larger picture, because the median time it takes for a patient to receive an accurate diagnosis is almost 5 years. For many children with complicated cases, this is just too long.
The other challenge lies in the fact that children are growing, developing people. Unlike adults who can pinpoint pain or discomfort, a child with a rare disease may not show signs until the disease has progressed. For children with Duchenne Muscular Dystrophy, for instance, early symptoms are often perceived by parents as just being weak, tired, or learning delayed, but are, in fact, very serious.
This delay in diagnosis can be a tremendous strain on families, both financially and emotionally, and many feel isolated and alone, looking for answers themselves when doctors and hospitals can’t provide the information quickly. Rachele, a mother who lost her son to Infantile Neuroaxonal Dystrophy, explains what it’s like to watch a child deteriorate as time marches on:
As a mom you are left watching your child lose the ability to walk, the ability to talk and the ability to see, and as a mom you made sure that your grief at watching this happen to your precious child didn't take over you and you made darn sure that he did things other kids could do. You see I made sure that no matter what, we still lived life, that Zach did everything he could to be a normal kid, when his legs failed him we put him in sled hockey, or adaptive baseball. I sent him to school to hang with the typical kids for as long as I could. This rare mystery disease was not going to rob him of living the best life he could!
Rare diseases account for 35% of deaths within the first year of life, and yet 95% of rare diseases lack an FDA approved drug treatment.
Communities and Patient Advocacy Groups are Essential to Finding Cures
There’s a reason that we don’t see many drugs hitting the market for rare diseases. Like my dad, many patients are one in a million. It’s still about the market, even if the demand is driven by people. Unlike many diseases which have huge patient advocacy groups, only 50% of rare diseases have foundations, another big barrier to research.
Why are patient advocacy groups so important? Besides connecting patients and families, they can work together on their behalf. Global Genes, one of the leading rare disease patient advocacy organizations worldwide, puts it well:
While individual rare diseases have small patient populations, collectively the rare disease community is larger than the AIDS and Cancer communities combined. Despite its size, the community lacks a unified voice, as only 15% of rare diseases have organizations or foundations providing support or driving research.
Sharing knowledge, experience, and research can help shorten the time between symptoms and diagnosis, while giving essential support to those who need it most.
“They looked at me and said, ‘We’ve never seen anyone like you before.’”
Patients Are Used to Being the Center of Attention.. and So Are Their Families
While Dad’s disease has progressed over 30 years, every time he’s admitted to the hospital – I’ve lost count at this point – he becomes a point of intense attention. Whether in Boston where he began his diagnosis journey, or at Duke Hospital here in North Carolina, he always draws a crowd. Last week he laughed and told me that, once again, “They looked at me and said, ‘We’ve never seen anyone like you before.’”
For Dad, that usually means he’s about to be poked and prodded by medical students. For us, it also means that every hospitalization includes a wide host of doctors. A few months ago, he developed pyoderma gangrenosem – another rare disease that is most commonly seen in people with Crohn’s disease – and then got shingles, so he had a rheumatologist, an oncologist (there was briefly concern than he had leukemia), a cardiologist (because that heart condition), an infectious disease doctor, and an internist. That meant explaining the situation to every new doctor and nurse on rounds, going through the entire history of his illness from square one over and over again. Exhausting, in a word.
As a child I was acutely aware that Dad was different. I was very self-conscious when he was around my friends. When he couldn’t work and had to collect disability, I was ashamed. I had to grow up very fast, the shadow of mortality on my dad every day. But now, I’m an expert. My sister has become a champion for him, too, spending hours on research. One of the doctors during his last hospitalization was so impressed by her knowledge of pyoderma gangrenosem, that she was mistaken as a medical professional.
Either way, for anyone dealing with the rare disease community, it’s important to understand this. There’s always a line between feeling like a medical miracle and a medical freak. Families are tied and worn, looking for a ray of hope anywhere we can find it. Knowing that can make all the difference.
Anything Can Be a Medical Emergency
Two weeks before I got married in 2004, I got the worst phone call of my life. “Your father is in a medically induced coma,” my godmother, Gina, told me. In all our family’s emergencies, she’d always been there, a calm voice of reason and support. “He has an infection, they don’t know what it is, but you should probably get here as soon as you can.”
It turned out he had a lesion on his foot and he contracted a staph infection. In Boston, a doctor grilled my mother about his fever. “It was only 99.5,” she said. The doctor replied, “With all the prednisone in his body, if he’s ever over 99, he needs to come to the ER.” That slice of advice could have saved his life, but no one ever warned us of the possibility.
Thankfully, Dad survived. He didn’t get to walk me down the aisle, but he heard the live stream.
We’ve been borrowing time for a long while now. Dad used to tell me he wanted to live to be one hundred and eleven, and it comforted me as a kid. I know that is unlikely, so we all try to fill our years and moments up with extra love and care that will last even longer than that.
The Cure May Seem Out of Reach, but Hope is Not
Every patient suffering with rare disease hopes for a cure. But the reality is that few find it, or find it too late. For most, learning to live with a debilitating illness is the best they can hope for, treating the symptoms with an array of medications. Others undergo treatments that bring their own complications. One medicine ate away at my dad’s muscles. Others made him so tired he could barely get out of bed. One, IV/IG, helped cure him of pyoderma gangrenosem. He may take almost 200 pills a week, but there’s no denying that his carefully prescribed medications have saved his life.
This is why research is so important in this space, and why there's so much excitement in the community. Kent Thoelke,Executive Vice President, Scientific & Medical Affairs, Safety & Commercialization at PRA Health Sciences, explains:
"With technology today, social media, search engine optimization, and patient communities — we are now in a position like never before to be able to connect directly to patients. The ability to mine patient data and connect patients with potential trials is remarkable. The ability to provide patient education electronically has changed the way we interact with patients. I have been a leader in the use of big data for over a decade – I have been yelling from the mountain tops for a long time that the key to the future of clinical trials will be our ability to leverage Big Data and data assets to connect the right patient with the right trials.
This rare disease journey has not been one I would have ever chosen for my dad, or anyone else for that matter. But it has led me to a career in clinical research, has brought my family closer together, and has taught me a great deal about the importance of patient advocacy and community.
More than anything, it’s also taught me the strength of the human spirit. Even though Dad’s hands are twisted beyond belief, he always finds a way to play guitar and make music. He’ll show me a YouTube video of a busker playing guitar with his feet, or stumps for hands and says, “See? I have nothing to complain about.”
And that strength keeps me motivated. I know that together, we will find cures that will shape the future. Because hope matters to all of us.
Preparing for the Road Ahead: Rare Disease Advocates Unite
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