Rare Disease Day 2016, 29 February: Join Us in Making the Voice of Rare Diseases Heard

Rare Disease Day 2016, 29 February: Join Us in Making the Voice of Rare Diseases Heard

Rare Disease Day Bonus Episode (episode page)
Description: This episode is our first clip show! You may or may not have noticed that I’ve secretly been making a rare disease podcast all along, so it was really exciting to put some of it together in this episode. I’ll be talking to many more rare disease patients in episodes to come, but so far I’ve talked to several people with rare and rarely diagnosed diseases and disorders, as well as people with rare manifestations of more common conditions. Today’s episode highlights some of the challenges of living with rare conditions, told as only those who have lived them can.

[intro]
Hey there and welcome to In Sickness + In Health, a podcast about chronic illness, disability, medical traumas, and everyday uncomfortable healthcare experiences. My name is Cara Gael; I’m not a doctor or medical professional, I’m just a person and a patient who really wants to talk about this stuff more.

If this is the first time you’re listening to the show, welcome! Nothing said on this show should be considered medical advice. If you’re experiencing a medical issue, please seek qualified medical help. I know the system sucks, but I wish you a lot of luck. Every person is different, even within disease groups, so none of my guests should be regarded as official representatives or spokespersons for their conditions. Please respect their very personal choices, and unless they ask for it, please don’t make suggestions about treatments or lifestyle changes. Unsolicited medical advice is almost never not annoying.

This episode is a little different than all the others, because for one thing, it’s our first clip show! In today’s special bonus episode, we’re celebrating Rare Disease Day. You may or may not have noticed that I’ve secretly been making a rare disease podcast all along. I’ll be talking to many more rare disease patients in episode to come, but so far I’ve talked to several people with rare and rarely diagnosed diseases and disorders, as well as people with rare manifestations of more common conditions. Today’s episode highlights some of the challenges of living with rare conditions, told as only those who have lived them can.

In the show notes, you can find links to the individual episodes these clips are from. You’ll be hearing from Cathy, who I talked to in episode 5; Jen, who I talk to in this week’s upcoming regular episode; Kirsten who I talked to in episodes 10 and 14, Ilana from episode 2, Soul from episode 20, Lauren from episode 1, Rebecca from episodes 3 and 6, K from episode 18, Abby from episode 16, and Cyrena form episodes 13 and 17. It’s really exciting to be at a point with the show that I can comb back over all the wonderful conversations I’ve had, and put together a clip show.

You can find resources and more from us at insicknesspod.com and on social media @insicknesspod. If you’d like to email me, you can do so at insicknesspod@gmail.com, and if you could take a moment to subscribe, rate, and review In Sickness + In Health on iTunes, it will help out the show.

This Rare Disease Day, I am excited to share some pieces of the conversations i’ve had with the guests we’ve had on the show so far. As someone living with a handful of rare or rarely diagnosed conditions, I have become acutely aware of many of the challenges posed by living with a rare condition. While many of those things are a total bummer, it’s also given me the opportunity to dive into the wonderful world of rare disease advocacy—a community bursting at the seams with compassion, brilliance, and creativity.

In medical school, doctors are taught a saying that you often hear referenced in conversations about rare and/or difficult to diagnose conditions: “If you hear hoofbeats think horses, not zebras.” This phrase is used to steer doctors away from diagnosing rare diseases since their unique and sometimes bizzare presentations often stick out in students minds more than the mundane and more common. The logic behind all this is that rare diseases are rare, and therefor extremely unlikely to be what a patient actually has. But rare diseases aren’t quite as rare as we’d like to think they are, and many conditions that were once thought to be extremely rare, have shown to be more common than previously thought.

According to the advocacy group Global Genes, when taken together as a group, 1 in 10 Americans are living with a rare disease or disorder. They affect an estimated 350 million people worldwide, which would make for the world’s third most populous country if we all lived in one place. There are approximately 7000 known rare diseases, but only about 350 of them make up about 80% of all rare disease patients.

95% of rare diseases don’t have a single FDA approved drug to treat them, and rare diseases are responsible for 35% of deaths in the first year of life. While they get very little research funding, studying one rare disease can help us better understand others, as well as more common conditions.

If those aren’t enough reasons for you to care about rare conditions, many people with more common conditions develop rare complications or manifestations. As we learn more about how our genes interact with various factors like environment and lifestyle, and more about why some people respond to some treatments while others with the same condition don’t, it becomes clear that each individual patient has their own uniquely individual health condition. As Peter Saltonstall, the president of the National Organization for Rare Disorders (NORD), put it: “In the long run, every disease will be rare."

For example, many people with one chronic illness, wind up developing other conditions, some of which are rare and poorly understood. In episode 5, Cathy talked about some of the conditions she’s had pile on over the years.

[Cathy clip: I wish it for once wasn’t this rare thing]

When you have complicated or unexpected medical issues, people often don’t know how to react. Unfortunately, sometimes that even includes medical professionals, and we wind up havig to make THEM feel better, like I talk to Jen about in this week’s upcoming regular episode.

[Jen clip: Jen clip about comforting other people]

Explaining rare conditions to people can be complicated, and we often have to find ways to help people better understand them, using examples they are already familiar with. It can also be difficult, because for so many of these conditions, we still know so little about them at all, as Kirsten talked about in episode 10.

[Kirsten clip: it's like Rheumatoid Arthritis, it's like Lupus...]

50% of rare diseases affect children. In that same episode, Kirsten talked about the diagnostic limbo she experienced after the onset of her Still’s Disease symptoms at age 5.

[Kirsten clip: “particularly with"]

And like Ilana talked about in regard to her immune deficiency in episode 2, rare conditions often get in the way of just being a normal kid.

[Ilana clip: immune deficiency, have to be careful, hard to do in high school]

Being a kid with any medical problems can be scary and distressing, but with rare conditions so often very difficult to diagnose, that process can be really traumatizing, like Soul talked about in episode 20.

[Soul clip: describing diagnostic process]

And it’s not just kids that often have a really hard time in the medical system with a rare or rarely diagnosed conditions. There are many different factors that can get in the way of getting a diagnosis, and sometimes it seems amazing that anyone gets diagnosed at all. In episode 1, Lauren talked about all of the privileges that enabled her diagnosis, and how hard it can be to find a doctor who can actually help.

[Lauren clip: talking about privilege]

It comes up on the show all the time that the medical system isn’t the friendliest or most helpful place for women, people of color, and lgbtq individuals, which Rebecca talked about a bit in episode 6.

[Rebecca clip: lgbtq access, trans person with a rare disease]

And a lot of these problems come back to lack of research and medical education in general, and for rare conditions specifically. In episode 3, Rebecca also talked about the diagnostic challenges presented by rare conditions, and our shared Ehlers-Danlos Syndrome diagnosis in particular, as a result of not being taught well—if at all—in medical schools. Trying to find experts in these conditions can be extremely challenging, if any exist at all.

[Rebeccca clip: not taught in medical school, non expert experts]

For rare many with conditions, people wind up having to diagnose themselves because so many doctors wind up missing or dismissing them. In episode 18, I talked to K about that, and the dual reality of self diagnosis.

[K clip: dual reality of self diagnosis]

And as Abby talked about in episode 19, self diagnosis can actually be a life saver. She learned that for herself while dealing with a rare manifestation of Endometriosis, a reproductive health condition that affects 1 in 10 people of menstruating age, but often poses many of the same challenges as rare diseases.

[Abby clip: self diagnosis, waking up from surgery, being right, if i could have done the operation on myself i would have]

Sometimes there is a bit of pride and curiosity that comes with being rare, especially if you can appreciate the science of it like Cyrena talked about in episode 17 with regard to the rare spinal stroke she experienced.

[Cyrena clip: Spinal strokes make up 1% of all strokes]

That does it for this special Rare Disease Day bonus episode from In Sickness + In Health. Check out all our other episodes and resources at insicknesspod.com. There you can also sign up for our mailing list so you’ll never miss an episode, or you van subscribe, rate and review us on iTunes, which helps other people find the show. You can follow us on social media @insicknesspod, and reach me by email at insicknesspod@gmail.com. Stay tuned for more to come from us, including various other interviews with more rare disease patients. We’ll be back on Wednesday with our regularly scheduled episode, and don’t forget to be excellent to yourselves and each other.