Rare Disease Day 2011

I know that at lot of my blog posts center around Claire and Rett syndrome, but today she will share the spotlight. Feb. 28th is the 4th Rare Disease Day, which is a pretty big deal for me. It is very easy to feel isolated and overwhelmed when dealing with the multitude of hard things that come with a rare diagnosis. Rare Disease Day is about calling attention to the over 7,000 rare diseases that more than 30 million Americans suffer from and so many more globally. So, to bring attention to my favorite rare diseases (and by favorite I mean have hit VERY close to home for me) I figured I would blog about them.

I will start with Amyloidosis. In March 2006 my mom was diagnosed with primary amyloidosis after having a major stroke and being rushed to the Mayo clinic which was close to her home. The amyloid protein had deposited in her heart, causing it to be very thick and pump inefficiently, thus the stroke. Doctors painted a very grim picture, they doubted that she would be around more than 4 months. The primary treatment at the time was a stem cell transplant but because of the stroke and the damage to her heart, she was not a ‘candidate’ for that. Mayo being on the edge of what is new and exciting offered an option referred to as the Italian protocol. They didn’t know if it would work, but there was very little to loose by trying, and as it turns out, so much to gain! The experimental treatment worked!!! It was through Amyloidosis that I was introduced to the concept of a support community and the science of the body. I learned about the Congo Red Dye test that is done to check for Amyloidosis and about the importance of the light chain assay to keep track of where the disease was as far as active or inactive. I learned about special cows in Vermont (no joke!) that are raised to produce a specific substance that allows for this test, that in turn allows doctors to take my mom’s blood and report back that she is fine. Yet again, I find myself loving cows! I also learned about how very intelligent, well intended doctors, just don’t know everything. While at the same time, strangers with no medical background can at times be the greatest of resources. The strength that was shared through the community of others as we went through the treatment was amazing, I think at the first support group meeting there were 8 other people from 4 states and none of them felt like strangers.

Next up, Crohn’s disease. Just after I turned 19 I was sick a lot. My parents thought I had an eating disorder as I lost weight like crazy and spent a lot of time in the bathroom. It felt like the viral infection from hell that lasted for months, turns out, I wasn’t anorexic, it was Crohn’s. I had to take what seemed like a thousand pills a day and none of them helped. I ended up in the category of severe Crohn’s and in the chemo unit at Mayo Clinic getting infusions every few weeks. In retrospect, it was a pretty crappy (ha,ha) way to spend my 20’s but I really had no choice. I was tired for years. Finally in 2007 I got really sick. I was in the hospital in Santa Cruz and the GI doc came to visit me. He pretty much said that I was so bad that nobody in the Monterey Bay area was qualified to help me. The next day I was on a plane for a consult with a colorectal surgeon back at Mayo Clinic in Arizona. One of the things that I have learned in my experience with the various rare diseases, it is never good when a specialist can see you right away, never. It did work out that this doctor knew a lot more than the guy I had seen at home. He even knew of somebody in my state who could care for me. Ever since then I have been sticking needles in myself every two weeks and my Crohn’s is under the best control that it has ever been! I never joined a support group because I didn’t really want to talk with others about the stress from constant diarrhea or how frustrating it is to get sick from everything since your immune system sucks. Rather Crohn’s taught me to laugh. My friend Kathleen and I would inflate exam gloves while we waited for doctors and write different parts of the exam in appropriate places. Jared and I played hangman in the waiting room at the ER when I had beauts of uncontrolled vomiting. I learned to let laundry pile up and that cleaning the carpets was more of an optional thing. As much as having Crohn’s is truly a pain in the ass, I know that I am a better person for having to get the lessons from it.


That brings me to Rett syndrome. While it is more common than Amyloidosis, and with a longer life expectancy, more debilitating than Crohn’s and even more socially awkward, Rett has brought with it the strongest community that I have experienced in rare disease land. There is no doubt about it, if I could undo any of these, it would be Rett, I hate it. It holds our daughter Claire captive, makes me second guess just about every thought that I have and has driven Jared and I to the edge of exhaustion and we are just at the beginning. But I do have so much hope. Research is being aggressively pursued. Of the three rare diseases in my life, I most expect that Rett will have the biggest leaps in treatment and what we do with it in my lifetime. That is why Rare Disease Day is so important. Awareness is so critical as each of these different causes strives to make progress and ease the effects on the body. So on Monday, as you might be tired for one reason or another, I encourage you to think about the significance of Rare Disease Day. If you are somebody who has a rare disease close to you, know that you are not alone, there is support, there are other people out there. If you do not have somebody close to you in this exclusive club, perhaps you would have strength to share or encouragement to give and if you do, please do not hesitate, you can make a difference.

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