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!!

Celebrating This Moment

There was a period when the news was fresh that I would explain in excruciating detail to anyone willing to listen exactly what Cyrus's disorder meant for him. But, though I have hinted at it, I have never explicitly stated online that Cyrus's genetic disorder is a life limiting condition. It is a fact that is difficult to talk about, but at the same time I need to talk about it.

When Cyrus first started manifesting seizures I went to every appointment and asked the same two questions. What does this mean for Cyrus's development? And what does this mean for his life expectancy?

I needed answers to these questions! It didn't matter what they were. The scholar within me finds uncertainty to be the greatest source of anxiety. And I've always faced every challenge in my life with hours and hours of research. Because even when it's terrible news, knowing what to expect makes any situation easier for me to face and accept.

But when I asked these questions, I got really vague answers about how every thing falls on a spectrum and there were simply not yet enough indicators to know. At one point I was told that he would be impacted and that was a conversation we would have to have and it was a good thing that I was asking, but this doctor seemed unable or unwilling to have that conversation at that moment.

I don't know if they didn't know (it is a freakishly rare disorder that is apparently difficult to understand), or if they just didn't want to tell me out of some sense of compassion because the news was not good.

Because when I finally did get an answer - it sucked. And I mean soul crushingly so.

It was an in-patient neurologist with a specialty in brain tumors who finally answered this question. She had followed us through every hospital stay and so she knew us as well as an in-patient doctor really can. She presented me with two possible scenarios.

She told me that according to the literature on ADSL that she could find, that typically the disorder followed two tracks. A moderate track, where patients manifested seizures around two to three years of age and then often lived into their twenties with both significant cognitive and physical impairments. And a severe track, where patients manifested seizures at about a month of age and lived to maybe two or three. She told me though, that Cyrus was presenting between these tracks, but based on when he developed tonic clonic status seizures, she thought his life expectancy was likely to be closer to the two than the twenties.

I didn't make it all the way through her explanation. There were wracking ugly sobs - I felt like my chest and throat were caving in on the themselves.

But I thanked her. I thanked her for giving me an answer. Because despite the fact that the ground had just opened up underneath my feet, threatening to swallow me, I also felt relief. I felt comforted because I now knew what to expect.*

Learning this information though also triggered a grieving process. In some ways it was like Cyrus had already died. And in some ways something did die - my dreams, hopes, and expectations for him, his life, and my experience as a mother. I didn't think I even had expectations; I thought that I would accept him as he was no matter what. But this news was not so easy to accept. And so I grieved.

And I was so angry that I was spending all my time grieving something that hadn't even happened yet. That here he was living, happy, and I was missing all of it! But these emotions needed to be processed. I couldn't just snap my fingers and be over it no matter how much I wanted to be. But the passage of time has helped and Cyrus has taught me to be present once again.

Because you have to learn to be present within the moment when that moment might be all you have.

Cyrus is two years old today! Right now we are so not grieving. We are celebrating! Because every single day is a gift to be treasured. And today is an opportunity to stop and reflect - to stand in awe at all the amazing things Cyrus has experienced and accomplished. He has surpassed so many expectations this year.

He has maintained better seizure control that his neurologists thought possible! He has continued his slow steady progress in becoming more coordinated. His head control has improved immensely! And you should see him roll down a wedge these days! He's so fast you can't catch it on film.

He is such a trooper, surviving never-ending bouts of colds and teething. As parents, we are spoiled in this regard.

He is becoming so social! He loves other children - he gets more energetic and responsive when visiting with his cousins or hanging out with his classmates. And is learning to say hello by pushing a big yellow button. He also seems to give me hugs by hooking one arm around my neck. I am definitely a fan of this development!

As always, he loves movement! His favorite things are swinging, falling, spinning, and dancing. All of which are even better if you are singing at the same time! The last two nights he has especially been in a joyful mood. It's almost like he knows that today is his birthday!

So we are cherishing this moment. It is beautiful.

Today is Cyrus's birthday! He's two! And that's just impossibly crazy! Crazy awesome!

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Last year, so many of you - my dear family and friends - saved our lives by donating financial support that made it possible to quite frankly keep paying rent and pay for prescriptions at the same time. We are in a far more stable place now with a new job and supplemental insurance for Cyrus. We cannot thank you enough. I'm so delighted to say we do not need this direct support at this time.

So if you would like to help support Cyrus on his journey and honor him on his birthday, you may donate to this research fund. So far, Dr David Patterson has used these funds raised primarily by ADSL families and their friends to analyze how ADSL deficiency affects the activity of over 20,000 genes. The experiment results have suggested two additional lines of research they would like to explore. One is to see whether ADSL deficiency causes cells to grow more slowly than other cells. And to check if ADSL deficiency is causing actual structural damage to cells that make it hard for them to attach to other cells or surfaces. His team has started examining the second possibility using a new microscope. They have seen evidence of structural abnormalities. These microscope experiments were done using human ADSL deficient cells. These cells will allow researchers to easily produce human cells with various ADSL mutations, hoping to discover why some people are more severely affected than others.

The better understanding of cell behavior is the first step in the possibility of developing potential treatments to address the underlying cause, rather than just a treatment of his symptoms. 

These kinds of studies are currently Cyrus's best hope of continuing to defy the odds. Any little bit helps - you might just donate whatever you would have spent on a two year old's birthday present.

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*Ironically now, I have learned a lot more, collected more anecdotes (there aren't that many cases to go off of so really all the papers seem to be case studies), and have learned that the progression of this disorder is not as well defined as she laid it out, and that her outline had more to do with intractable epilepsy than adenylosuccinate lyase deficiency, but at the time it really was what I needed.

Dancing with the Sun King

Cyrus's head control has improved almost over night! And then it just kept improving. It is exciting to see such improvement, but it is also shocking at how much of an impact this new ability has on the daily routine. This is simply due to the fact that he is so much easier to hold and pick up.

He doesn't arch his head back nearly as often or nearly as hard. Before when I had to pick him up by the arms, I had to have my fingers arched toward his head supporting it. This was killing my wrists - many times a week they would start to ache and I would have to baby it for days to recover, which is difficult when feedings and bath still have to happen. But now, I've had two weeks with barely a twinge because Cyrus has been doing most of the head holding himself.

His occupational therapist has been immensely pleased at his progress two weeks in a row! The first time, it was like "Where did this come from?" and the second week, "Wow! He's gotten significantly better still just in the last week."

Here are two videos so you can check it out yourself:

Playing with mom! 

Look at this head stability!! 

So Cyrus and I have been dancing a lot! Because he loves the swirling and because it's not so hard on my wrists anymore so I can actually last for a few songs in a row! Though I have realized, much to my own amusement, that dancing now takes more coordination. I try to let him do as much head balancing work as I can, which does mean I have to allow him some head space to wobble a bit, but I also have to be ready to dodge to the side whenever his head starts to drop forward so his forehead doesn't slam straight into my teeth! And I have to be poised to catch his head if he does arch it back unexpectedly. Because if he does it too fast he can throw off my balance. And we do not want to tumble over!

But we'll keep practicing until we master the tango or something!

And in the meantime, we hope that everyone appreciates how awesome it is to simply be able to hold up your own head! Haha!

Hanging out with cousin Griffin who already has awesome head control!