It's a Rare Disease

Apparently the last day of February every year is Rare Disease Awareness Day, so I thought I might share what having a rare disease in our family means to us.

First, I have discovered that I actually prefer the term disorder, as it's simply more accurate. A disease makes me think of some outside bacteria or virus that is invading your system, whereas in Cyrus's case, it's his own body doesn't know how to function properly, and for that reason cannot truly ever be cured, though there is the possibility that it can be treated.

But therein lies the issue. When something is rare, it affects less people. And that means generally, that we know less about it. This is because we have less examples to study, and there is also just less demand for research to be done.

And in Cyrus's case it's beyond rare! When he was first diagnosed we met a lot of neurologists - entire teams of them! And a few metabolic geneticists too! They would all essentially say the same thing upon meeting us:

"I had never heard of Adenylosuccinate Lyase Deficiency. I read a lit review this morning and honestly it's a bit beyond me - understanding the underlying mechanisms of this disorder requires a post doc after a post doc."

That's the level of specialty we're talking - only a handful of medical researchers have looked into it at all, and those that have, are trying to understand the inner workings of metabolic processes that requires so much expertise in so many different specialties that not many - even those within the field - are qualified to do this work at all.

And if his neurologists and geneticists both have never heard of it, there's zero chance that any of his other doctors and specialists have. And now - 18 months into this journey - Kyle and I probably understand this disorder better than anyone on his care team with the exception of the neurologist.  We are often the ones answering questions.

When your disorder is so rare it doesn't show up on rare disease lists or when you're like case number ten (plus or minus two)* in all of the United States and there are less than a hundred living patients world wide there is almost no reasonable expectation that the situation would be any different, but it is discouraging to know that because we don't understand it, and because there's little demand that research be done, there's virtually no viable treatment options.

Instead, we are treating symptoms. And I don't want to complain about this because we are receiving absolutely fantastic care and services. It's just frustrating that being one in a million (literally) means that there's less options. That if you want this research to be done, you almost have to fund it yourself (Or you get your Facebook group to bombard a university with "independent" requests for this kind of research to create the perception of demand). And when you're pouring most of your resources into caring for the child itself, that's hard.

And all of it is just so slow! And it feels like none of it is ever going to be fast enough to help my child. But we've requested to participate anyway. Maybe by participating in the research we could help someone else's because as rare as this is, I don't think the number of those afflicted is ever going to go down to zero.

So I guess I hope your take-away from this is that if you know of someone with a rare disease or disorder, know that you may be of a very small minority that has even heard of it! And because of that you are in a unique position to help the cause by creating that awareness or demand for researching treatment options.

Because the thing is... that one disease or disorder may be rare, but having a rare disease or disorder is not rare at all. These rare conditions actually affect about a tenth of the population. We just don't all have to struggle with the same thing.

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General Update: 

Cyrus has learned to cry again! And contrary to popular belief this is a good thing! It means he can communicate when he is hungry or when his mouth hurts. As right now I believe we are in a record never ending teething crisis. Apparently, according to one of his teachers, because he doesn't chew anything (which allows the teeth to erupt more quickly) teething may be taking longer than normal!! Ugh!! While he's in pain, he is also way more likely to arch backwards, so I've not seen as much of the beautiful head control I've been gushing about, and my wrists are feeling it again. But we've only got four more molars left!! Hopefully it will be done soon!

The good news is it's starting to warm up again - and we've made it a whole three weeks staying healthy, so he's been going to all his classes and therapy sessions again. This week he got to try dad's Indian butter chicken curry sauce! And this seems to be the first non-sweet thing that he's actually liked! Yay!

We also celebrated his birthday last week - we unfortunately didn't get to go to the inclusive park due to the rain, but we still got to play with lots of friends, balloons, eat raspberry cheesecake, and we concluded the day with a never-ending giggle fit! Quadruple win!

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*I base this number off a patient directory that catalogues all known diagnoses of this disorder within the world, but you have to elect to be on it, which we did. There may be others that have not, or were not given the option because their doctors didn't know about it because this disorder is freakishly rare!!