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Rare Disease Day-- 2-28-13

If you happen to have any friends on facebook with rare diseases or whose children have rare diseases, chances are you've seen this picture. (well, with a different face in it, of course) I will admit that as Rare Disease Day approached and more and more of these have popped up as profile pictures on facebook, I've struggled a bit. Notice the quesion marks across the "jeans for genes" ribbon? Most people have a diagnosis to put there in place of the question marks. We don't. There is a list on the global genes project's website of approximately 7,000 diseases that are considered to be rare in the United States, meaning that they have an occurrence of less than 200,000 people. SEVEN THOUSAND. My question is, why haven't we been able to identify one that fits Raya yet? (Ok, well she did have c. diff a couple times and that happens to be on the list, but that SOOOOO doesn't count...)

Until Raya was born, I had a very limited and concise view of the medical world. All of my previous experiences, both my own and my children's, had led me to believe that when something is wrong, you go to the doctor, the doctor does tests to find out what's wrong, and then based on that diagnosis, a treatment plan is administered and you go on your merry way. Some of those experiences were your average run-of-the-mill ear infection treated with antibiotics or peanut allergy that resulted in my purse always having Benadryl and EpiPens in it. Others were a bit more complicated, but we always knew what they were and they were always resolved. Now don't get me wrong, I knew there were a lot of medical conditions that can't be easily fixed and a lot that can't be fixed at all, but I had never had an experience where a diagnosis couldn't be found.

Having Raya changed my idealistic view of medicine, both western and alternative. When she got her first feeding tube at the age of 2 months old after less invasive interventions had failed her, our quest for answers began. 3 years and 2 months later, that journey has not ended. She has been tested for a myriad of medical conditions (including but not limited to mitochondrial disease, metabolic disorders, gastrointestinal anatomical abnormalities, eosinophilic disorders, motility disorders, genetic syndromes, and neurological conditions) and has a fairly lengthy list of diagnoses/symptoms, but there is nothing to explain or unify all of her conditions.

I've been asked what it's like to be "undiagnosed." If there was a stronger word for frustrating, that's what I would choose to describe it. It's like the most nauseating, miserable, stomach-dropping, twisting and turning roller coaster you can imagine. Sometimes it's not a big deal. We get on with life, diagnosis or not, and treat the symptoms to make her as comfortable & healthy as we can. Other times, it's agonizing to not know why she has these problems or if we're going about her treatment & management in the wrong way.

In the beginning, I lived with the notion that the next test we did was going to find "the problem," which would give us a treatment plan so we could fix it. Over time, that feeling unraveled. I'd get nervous the night before a test of any kind, whether it was blood work, MRI, endoscopy, upper GI, or anything else because I thought that maybe this would be the time that the pieces fell into place. With test after test that came back with results that were "WNL" (within normal limits) the hope I had would come crashing down again. Even flying clear across the country to consult with a well-respected specialist out of state did not produce helpful results. Eventually, we got to a relatively stable phase and I stopped looking for answers. I resigned myself to the idea that she just had a lot of funny little quirks, and that it really didn't matter if we ever figured out why. But inevitably, something would happen that would start my mind working again and I would end up researching, getting excited, emailing the doctor with my latest theory, only to realize or be told that this new theory wasn't "it" either. The past 3+ years have felt like a constant guessing game.

There have been two things in particular that have made being undiagnosed difficult for me. First, when you don't have a specific diagnosis, it is hard to find support. The heart moms have other heart moms, the mito moms have other mito moms, the EoE moms have other EoE moms, but we don't fit into any of those categories. If I hadn't come across Feeding Tube Awareness, I really don't know what I would have done for support. Second, knowing that there is SOMETHING wrong but not being able to find a name for it makes it very easy to doubt yourself. When test after test after test continues to come back "normal," you can't help but question whether you're making a mountain out of a molehill and thinking that things are worse than they really are. Sometimes you even encounter medical professionals who seem to go out of their way to make you feel like it's all in your head even though you know it's not. Then there is also the expense of continuing to pursue diagnoses and/or treatment, which for medically complex children often includes trips to specialists out-of-state that insurance doesn't always cover completely. It is all overwhelming and exhausting. Thankfully we don't live every day in that state of exhaustion, but it comes and goes in wildly unpredictable phases.

As negative as all of that may sound, I do still hold out the hope that we will someday find an explanation for all of Raya's medical conditions. The last 3 years have made it hard for me to truly believe that we ever will, but I still have the hope. New advancements in medical technology happen all the time. This is why, even though I have admittedly felt a little bitter this week seeing everyone else's pictures with their diagnoses written out across the ribbon, I support Rare Disease Day. There are 7,000 rare diseases already listed, and goodness knows how many children like Raya are undiagnosed, not because there isn't a name for what they have, but because it is so unheard of that their doctors just haven't located it yet. And goodness knows how many children DO have a disorder that is yet to be named. The more research that is done, and the more information that is shared, the better chances all of those afflicted with these rare disorders have of being diagnosed and receiving better treatments.

And that's all I have to say about that.


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