My friend Shannon had surgery to treat Cushing's Disease shortly after I did (about a year ago now!). That is also about the time we "met" online, and we quickly became good friends. We were able to meet in November for the first time "in real life" and it was like we'd known each other for years.
Shannon has been chosen as a patient partner for Genzyme's Boston Marathon fundraising efforts to support NORD - the National Organization for Rare Disorders. Nord provides funding to help patients with rare diseases travel to see specialists and get the testing needed to finally be diagnosed (and thus, get to treatment). When I couldn't get hope locally, it was NORD that paid for my trip to see my Endocrinologist in Los Angeles ("The Wizard" Shannon speaks of), do the months of serial testing for my cyclic disease, .
Shannon used to run Marathons before being struck by this "most morbid of diseases" so it makes this even more bitter-sweet for her, I'm sure. Her blog post, in her own words (link found here):
Getting diagnosed with Cushing’s is a marathon, not a sprintMakes me cry! True words...
by Shannon Seitz
As a former marathoner myself, I see so many parallels between the marathon and getting diagnosed with a rare disease (Cushing’s in particular). Crossing the finish line of the marathon is such a mix of pain, exhaustion and relief. As strange as it sounds, so was getting diagnosed with Cushing’s disease: a big pile of pain, exhaustion and RELIEF.
Before getting sick with Cushing’s, I believed that getting a strange and scary disease went something like this: a purple horn starts growing out of your forehead, so you go see your doctor. Your doctor recognizes the purple horn and immediately runs the standard test for purple horns. The test has a reference range of normal values between 0 and 10 and your test comes back at 1000! Whoa! Immediately, you are diagnosed with Purple Horn Disease and you get shuttled off to a specialist, who quickly hands you a comprehensive treatment plan. Quick and painful, much like a sprint.
Now I know better. I was planning for the wrong race and I was woefully unprepared for what was coming.
Here is what the race actually looks like.
Mile 1. You start getting some vague and annoying symptoms that you (and your doctors) chalk up to hitting your 40s. You start to gain a little weight in your midsection and start getting acne again for the first time since your teens. You also start to get depressed and have trouble sleeping.
Mile 5. Over time, you stop sleeping altogether many nights. Your doctor puts you on an anti-depressant and tells you to exercise more as it will help you sleep and will get rid of the extra weight which is partly what is making you depressed! But the thing is, you can’t seem to run very well anymore. What used to be a warmup run for you now is impossible. Every run is hard and the harder you try to run, the slower you get. Which is depressing!
Mile 10. You have begun a slow downward spiral of having a harder time exercising, gaining weight, and not sleeping. And despite your best efforts to cut more and more calories, to take all sorts of sleeping aids so you can get even a few hours of solid sleep, and forcing yourself to run even when you are walking more than running…you keep getting bigger and slower and more awake at night (and sleepy during the day). You also start avoiding people. You are gaining weight and ashamed of your appearance, you are too tired to anything but flop on the couch when you get home from work. And you have started getting very angry for no reason. Pretty much anything will throw you into a rage, even in public. And this isn’t like you at all, but avoiding people seems wise.
Mile 15. You have now been struggling over well over a year and you are starting to see as many specialists as you can, because this just can’t be a normal part of turning 40. Gaining 50% of your body weight just can’t be normal. And it just can’t be normal for a marathoner to have escalating hypertension. And it isn’t normal to have to sneak home from work to sleep during the day because you are too tired to stay awake for more than 3 hours at a time. But no one can find anything wrong with you. And most of the specialists you see don’t believe anything is wrong with you, because you don’t have a purple horn. All you have is a set of vague symptoms.
Mile 20. The second wind arrives! Finally a cardiologist that is used to working with runners sees you and says “I think you might have Cushing’s!!” And everything is so clear to you. You read the list of symptoms and you have so many of them – hypertension, rapid weight gain, totally wired at night but not during the day, depressed, a “buffalo hump” (collection of fat at the base of the neck) and so many others. You are so happy because finally you are going to get your magical tests and get sent to a specialist and get sorted out. So your cardiologist runs all the right tests…and they come back mixed. Some are slightly positive, some are negative, and the lab didn’t run some of the others correctly so those are no help at all. But you have your second wind and at least have a direction to pursue now.
Miles 22-24. This is the worst part of the race, physically and mentally. You are now sure this is what you have, Cushing’s, so you make an appointment with an endocrinologist because now that you have a diagnosis that fits and at least some tests indicating it could be Cushing’s, you figure it will just be a matter of a few more tests and you will be set to go. Five endocrinologists later, all you have is a bunch of doctors who still don’t think anything is wrong with you. You have a bunch of MRIs of your pituitary too, but the doctors and radiologists don’t even agree on whether there is actually a tumor in your head or not.
Mile 25. You are starting to give up hope. You are so close to the finish, but so far at the same time and you don’t think you are going to make it. But just in time, you manage to find a group of patients on the internet and they turn out to be your saving grace. They have run this race before. Some of them are running it for the second or third time (you want to be a “one and done” marathoner so this isn’t welcome news). And they tell you this is how the Cushing’s marathon course works for everyone. They tell you that tumors like the ones that cause Cushing’s are not always active and that fluctuating labs (and some positive and negative test results) are common. They look at your MRI and tell you that you DO have a tumor (these educated amazing patients look at more MRIs than lots of doctors). They tell you to fly across the country to see another endocrinologist. They call him the Wizard. And they tell you that if anyone can figure this out, the Wizard can.
Mile 26. The final stretch. You think it is completely crazy to listen to a bunch of sick people on the internet that you have never met and you think it is beyond crazy to fly cross-country to see a doctor with a nickname like the Wizard, but you have exhausted every other option and you are getting sicker by the day. You fly to Los Angeles to meet the Wizard. He spends an hour with you and really listens to you. He doesn’t tell you to eat less or exercise more. He doesn’t tell you that you can’t be that tired or that you couldn’t be restricting your calories and gaining that much weight. He just listens and takes notes. He then runs a battery of tests – you do a cortisol test of one type or another every single day for three weeks when you get home. And just like the patients on the internet told you, some of the tests are negative but many of them are positive too. The Wizard also orders one more MRI and very clearly sees one and maybe two tumors. And you finally get diagnosed with Cushing’s. The race is over, you are exhausted and in pain and your body is a wreck. But mainly, you are relieved that after all this you aren’t completely crazy, that this isn’t just your imagination. Something with a name – Cushing’s – was actually destroying your body.
Post-race activities. The Wizard refers you to a neurosurgeon. You fly to Texas and you have brain surgery to remove two tumors, you recover enough to get on a plane and you fly home. But the story doesn’t quite end there. You have blocked out everything the Wizard and the wonderful patients on the internet told you about recovery, including the fact that another marathon is about to start. You had to block it out – no one is foolish enough to think about the pain of the next marathon when you are just trying to survive the one you are currently running. If you did, you would just lay down in a ditch beside the course and you would never get back up again.
But now that I am on the other side, I can tell you the first marathon is only the beginning.
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