Coffin-Siri’s Syndrome. Life with a rare diagnosis.

I have a million very vulnerable posts in my draft box right now. Things that are personal and raw. About myself as a mother and a wife and a human being. But they are raw and it is scary to share the things sometimes.

But I am working on being intentional and forward in my writing. And this is basically an out loud journal….

I am One and Two’s step mother. This is fact. Plain and simple. Their father was a package deal. But what I don’t talk about is the history of these amazing young guys. Especially One. We went through a very drawn out and ugly custody dispute, I am still wary to talk much about that period of time. To be under a microscope and so worried about the well being and ultimately the safety of children.

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But One, who is eleven years old now, has an incredibly rare genetic disorder. So rare that he wasn’t clinically diagnosed until he was 3 and not genetically diagnosed until he was seven because there wasn’t the technology to find what gene was broken yet.

One was born in early 2005 and immediately there were issues. He wasn’t able to maintain his temperature, he wouldn’t open his eyes, he was “floppy” and he had a lot of difficulty with nursing/latching onto a bottle. Young parents, a doctor that ignored any concerns they brought up (instead telling them “all kids develop at different rates”), a mother that refused to see the obvious, a breakdown of relationship, lives lived in a state of chaos lead up to a delay in him getting evaluated. 2005 & 2006 were hard years, especially when my husband walked away from his first marriage.

One was diagnosed with global delays at 15 months of age. About the same time his father and I admitted that this thing we were feeling was real. They moved into my apartment and I became a care taker for One.

One received close to 30 hours a weeks of therapy for years. Occupational, Physical, Music, Vision, Speech, Eating, General and so many doctors visits to find out “what was wrong”.

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Then we finally got an appointment with a genetic specialist. Dr. Teresa Grebe. His toes are weird and that is finally what ended up clinching a genetic clinical diagnosis. Coffin Siris Syndrome.

We had never ever heard of it and there was literally one half of a column in a medical journal  about it. We were told that there were less than 78 confirmed cases IN THE ENTIRE WORLD. We were told best case scenario: he would live to his early teens. We were told worse case scenario: he will pass before he turns 9. Either way it would likely be a respiratory issue that shortens his life.

One has proven every doctor wrong. Before we couldn’t find a support group or even families that are struggling with similar issues. We have found an amazing community through Facebook, which transcends distances and languages. Just knowing that there are adults with this syndrome like the incredibly talented, sweet and funny Emily (check out her instagram). There is also the heartbreak when a family losses a child.  However, knowing that there are other families out there that “get it” is more than any information a text book or a doctor could provide.

We are constantly dealing with doctors that say things like “Well, I have never heard of that.”. It is so incredibly rare. We know so much more now.  We know that even within Coffin-Siris Syndrome different genes are effected and how a doctor “labels” a syndrome is different. These are the multitude of gene variations that present clinically as CSS ARID1BSMARCA4SMARCB1ARID1APHF6SMARCE1SOX11SMARCA2. One has the ARID1B mutation.

One is a little different. But he is a whole lot of awesome. How our family is effect is an every day thing. He has apraxia, Cortical-Visual Impairment, Hypo-Thyroidism, Cognitive Delays, and he will always have difficulties. He is literally the most literal person I have ever known. He loves cars (and the owners manual to any car he can get his hands on). He loves his family. He loves to play tag. He is the hardest working person, even simple task that we take for granted are a struggle for him. He sees the world in a way that has helped me be a more positive person. He gave his father a reason to grow up.

I could not imagine a world without One in it, smiling brightly.

 

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