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.