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.

 

First comes love and then you choose to work at it…

Recently, a coworker just asked me a question about my marriage. “How do you make time for each other?” It is something I get asked a lot. It is pretty obvious we made some time for each other at one point or another in that we have evidence of making time.

The beginning it was easy. Everything was new and exciting. Talking to each other, sitting so close that in a dark corner we were one silhouette. The future, wants, dreams, fears. Memories. Opinions. Conversation and physical contact were one and separate. We were young and fell hard. We had both left relationships that had caused us deep emotional harm.

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The beginning, way back in 2006

But time moves forward. We have grown older and we have grown apart in some ways. In other ways we are closer. We work to make this work still. We take trips to be together. But we are two people that arrived in a place together.

We are still two people. We had very different upbringings, we have different interests and we have very different tastes in movies. But we have a lot in common and we enjoy each others company.

Relationships get pushed to the back burner as life gets hectic… especially when you have kids. Sometimes the partnership of keeping tiny drunken lunatics alive makes the relationship become harder. For a while my husband and I basically only discussed the kids. We went opposite directions and never came together for the mental intimacy that is necessary.

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This is our wedding photo in 2007

We grew differently. He left on a great adventure. His family that he loves so much was out of sight and out of mind. he made some choices that shattered a small part of me. choices still breath through the cracks left behind. Those choices profoundly changed the dynamic of our relationship.

The version of me my husband fell in love with is mostly gone now. The version of me he fell in love with was incredibly unwell. She haunts me still. Lingers in the background of me and keeps me awake at night. causes me to forget to make dinner, pay bills. Sometimes her anger and instability starts to leak through.

The man I fell in love with is mostly gone now. He is different now than he was at 21. More stable, less spontaneous. However, he is also more comfortable being himself all the time.

We have grown as individuals. Which means we work at knowing each other and the people we are becoming. I love him and the life we have but it is a quieter relationship then the tumultuous, intensity of our youth. We love the person each of us has grown into. It isn’t bad but it is different. Love is not static.

Love is a living breathing thing. It must be cared for and allowed to change. It has changed slowly in some ways and in other ways it has changed quickly.

I am not static. My husband is not static. We grow and change because we are alive.

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2014! 

People seem to look into the dressed window of our lives and see… something. It is carefully curated to look this way: easy. it isn’t any relationship is hard and adding in flaws and five small humans makes it even more challenging.

But that is what makes a relationship worthwhile. The downs are downs but they make the ups so much more delightful.