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.

 

Where the *&$^ does the time go?!?!

I had to take a “where the time goes” assessment for my orientation to the online program at Arizona State (Go Devils!). Every mother of five wants to intemperate and  have in black and white how little time they actually get to themselves.

“On average, how many hours a week do you spend with friends, going out, watching TV, going to parties, etc?” was where we had to put in family time. However, do I put homework help, bathing, laundry, walking to and picking up from school etc there or do I log that under “errands”.

The end result is that I get -18. Negative eighteen hours per week to myself to do homework, sit in lectures, read etc. And I rounded an average of six hours a night for sleep.   I laughed. Loudly. It woke up the baby. My god. I need an entire extra day in a week according to this generalized bs.

Sometimes there is no balance. Sometimes I listen to Three tell me about her project while I make dinner, sort laundry and helping the baby get his hand out of the shape sorter hole. (yes that was a real example). Sometimes my husband is home and I can tag him in on stuff… especially dinner making. The man can cook *swoon*. However, with his responsibilities outside of home I can’t be sure to have him here… I have been lucky for the past 6 years but we are 98% sure he will be going away for a bit coming up here soon. Being the sole day to day person is daunting but FaceTime is a really nice bandaid for extended Daddy absences. I will cling to that 2% uncertainty but I also know it is what is right, best and needed.

BUT ANYHOW…

There is never enough time in the day. You really cannot do it all without sacrificing something. Multitasking is all good but what task should get more attention that just can’t give it? Work? Family? Yourself? For a long time I “sacrificed” my younger dream and became a stay at home mom. It took some mental adjusting but looking back on the past 9 years: BEST DECISION I HAVE EVER MADE.

There is a lot that is sacrificed when becoming a parent. I really thought I could do it all as gracefully as a movie character. But there is no simple way. There is only personal grace. Accepting that maybe the kids won’t have perfectly braided hair. Or that dinner might be cheese, crackers and a fruit spread with a game of “what was the funniest thing you did today?” because honestly you forgot to think about it until 6 pm and the kids are “literally” wasting away from hunger.

Grace in forgiving yourself that it isn’t magazine quality clean. Grace in forgiving yourself that you napped on your lunch break. Grace in forgiving and embracing the limitations of being human.

And also late nights and too much caffeine.

We know I am all about that over caffeinated life.

 

Very Firsts… and Thirds, Fifth and Sixes.

The very first day of the new school year has been completed.

Mission control deems this was a successful day.

Everyone woke up on time, got to school on time, there were no tears or whining. We even manage to get a few half decent obligatory 1st day pictures! I managed to work, do my class, and enjoy time with Five all in the time before the big ones got home.

One got on the bus to his special program today. He has a rare genetic disorder called Coffin-Siris Syndrome (which I should write about one day) and has some mild cognitive and physical delays. He is also besties with the bus driver and was thrilled to see it was the same driver this year.

Two is starting fifth grade. Which is CRAZY because I remember fifth grade fondly. In fact I am friends with my former fifth grade teacher on FaceBook. I hope that this grade is good for him… last year was hard. He is going through “the changes of life” and I think it has thrown him off his groove. Kid is smart, funny and kind but towering over other 9 and 10 year olds can be hard, smelling like corndogs after PE when you forget deodorant (which he was still only 8 and 9 so completely understandable) and getting pimples over the summer can be hard on a guy.

Three is in her element. School is her jive. Desks, checklists, extra sharp pencils. She loves school, her teachers, her best friends, and all things that school has to offer. She cries when other kids misbehave and the class gets in trouble. Three is a rule follower and super diplomat. In kinder a boy was incredibly cruel to her and begged her for attention. When he would say or do mean things she would never retaliate. She demanded that he respect her space, reported him to her teacher and during the meeting that ensued said “He isn’t nice but I think he just doesn’t know how to be a good friend. I don’t want to be around him because he is mean to me but I will still be nice to him in class. Maybe he will see how to be kind and learn.” She was 6 years old. 6. Speaking with kindness and dignity. Girl is going to grow up and be a better human than I ever could be.

and Four.

Yesterday was Four’s very first day of Kinder. Which she has been chomping at the bit to attend since Three started Kinder. She hasn’t slept in 3 days. “I AM GOING TO KINDERGARTEN!!!!” And apparently yesterday was everything she could dream about. She told us all about how her teacher read the “The Kissing Hand”, how they learned how to ask to go to the restroom, that there are twins in her class and that they are so cute because they wear matching clothes, that she made friends.  She was disappointed that she hasn’t learned to read yet. Her father explained that reading takes time and practice and we can help her practice at home. He was told that he can’t teach her how to read because he isn’t a teacher like that. He can teach her how to ride a bike and do science but not read…. She has odd ideas but we will just groove with it.

We are so lucky that all of our kids are so excited to learn. That they view the classroom as an opportunity to have discussions, make friends, and explore the world. I hope that feeling never goes away and that they are always this excited about their first day of school.

Summer Break is gonna break me.

First & foremost:

I loooove my children. All 5. I love spending time with them. They are enchanting and amusing and creative.

HOWEVER, now that the disclaimer is out of the way:

Summer 2016 is upon us. I have 5 children, 2 dogs and a crotchety, lunatic cat (I am not petting her fast enough and she is attacking me) in my house.

Winters here in the valley of Arizona are perfection. Chilly but sunny, no snow on the ground unless you go up to the mountains.

Summers are a different situation. It is supposed to be 107 this week. ONE HUNDRED and SEVEN degrees outside. At that point it is too hot to sit in the shade. It is close to 95 degrees at nine in the morning. It is like living in the sun.

Something breaks in your soul when you have to brave 117.

Thank goodness for the public library. The library I take the kids to is literally a gift to my mental health. For some reason during less than ideal weather my typically awesome, chill kids turn into bickering, whining jerks.

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The Library (bold and italics and said in a honey voice) is where I take them to explore the world in air that is conditioned for comfort. Long live the public library. Long live the librarian that accepts with grace the completely convoluted tale of the search for the book with a red cover that number two will take her on.

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There are infant story times, music, science programs, reading challenges, BOOKS, air conditioning and currently a very cool Maurice Sendak exhibit.

Plus, the wifi here is AMAZING.

Motherhood Rising

My heart didn’t know it could love this way until I was already up to my neck in motherhood. Love is exponential and never ending. Love, it grows and ebbs because it is alive, it needs to be nurtured and it needs to be recognized for it to thrive.  Mother’s day has many people thinking about their mother’s, about motherhood and how to be a better mother.

I didn’t want children. I wasn’t raised in a open and affectionate childhood. My mother loved us in an amazingly practical way. My mother is ever practical and also reserved in her affection. It wasn’t warm and it had some truly dark moments. My parents are human and have truly human flaws (you can read a bit about it here)

My mother loved us the best she could and at the time it was painful. Painful to see the love other mother’s poured into their children that was so tangible and physical. My mother loved us by working hard and in that had to be absent. She loved us by giving us what we needed and sometimes that pushed a hug or eating a meal together aside. My siblings and I have varied paths on how to deal with the emotions from a childhood where we clung together to emotionally survive.

But because of this jaded view on nurturing I didn’t want kids. I had no idea of what my spirit was capable.

Everyday my cup spills over.

I knew that being a mother and a partner in parenthood with my husband was a great gift.

Number One and Two are lights in the world. Opening my eyes to the love that can be given and received. I am so blessed to be a part of their growth. For all it is worth I give thanks every day that their biological mother brought these 2 amazing young men into the world.20151013_112617

My biological children… Three, Four and Five: my knowing each of them begins before they breathed this air or felt this sun on their faces. Each a private conversation for 40 weeks (41 for Five). When a woman is pregnant there are moments of turning inward, of a small psychic connection between her and her child.

Sometimes, Motherhood is exhausting. It is hard and painful and emotional. It is never perfect. But in it’s challenges and moments of frustration there is a lesson. There is an never ending reward of helping this amazing combination of you and your love become an adult. The reward is the journey. The reward is watching them grow into adulthood, seeing their successes and their failures. Not to solve every problem but to nurture them to be able to solve their own problems.

Motherhood is the gift that I never knew I needed. This mother’s day I thank the universe for giving me these humans to watch, teach and learn with.

 

 

On Family, On Addiction

This one is bound to be heavy. Just a bit of a warning.

My mother is dying.

Dying. To see it in writing is almost more painful for me than when she looked at me dead straight while we reclined in her bed waching Criminal Minds and announced it as if she was letting me know she wanted to go get tacos.

That is how she does things. She just says them. There is no beating around bushes or skirting issues. No “We should talk” platitudes.

just fact. even on really sensitive issues that fuck with a 14 year olds head. but fact.

She is sick, her body is failing itself. She is an addict, which just speeds the other sickness.

It was just us for the first moments of my life. She was young and alone and pregnant. She might not have always made the best decisions but she made the decisions that she felt were right. She always protected me from the ugly horrible things. From the glaring otherness that has been my place in life.

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But she is dying. Lupus is killing her. A pack of cigerettes a day from the time she was 16 and COPD is killing her. Stress of being a single mother. The stress of loving a man that dealt with addiction. Being an alcoholic with a recent bender going on day 9 14. Those are all killing her.

And it scares her. It scares me. I have finally after being angry at her for so long over the details of my childhood. Knowing what I know now, as a mother, I can see (not always agree with but see) why she did what she did.

But I need her still.

I need her to be there for my kids. I need them to know this amazing, strong woman. This woman that created life and held it up and built up her children despite the odds. We just got home. They just started to get to know her.

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She has so many stories that I am yet to hear. Maybe she wrote them down. Maybe they are just locked away in her mind. Memories that she hopes die with her. But they are her history. and mine. I need them… I am compelled to know the details because with every detail of her life I have discovered more of myself.

This past 3 weeks has been emotionally exhausting for me. For my siblings. For my father loves my mother more than words. Watching her give up because the pain and because the alcohol makes it hurt less until the alcohol has worn off is slow and agonizing.

She finally agreed to go the hospital. She is now at least not drinking anymore. But her body is still failing.

I remember now why I rarely drink at home. I remember now why I feel uncomfortable when I make “that mom joke” about drinking a bottle of wine. My mom did that. She either doesn’t drink or she does and our life veers off course.

Flaws and everything she is my Momma and I need her. I need her sober. We need her.

Addiction has rewritten so much of my life. Taken away the possibilities and the might have beens for many things. It is something that I wish didn’t exist but does and it shapes so many of our lives.

 

 

Lovely, Lovely Butterflies

Before life got a bit crazy and super hectic with the Hubster working full time and attending University full time we took a minute to really spend time together. We had lunch dates. We went on hikes. We knew that coming up that we would not be able to spend as much time just together. That the time we get is valuable… a really long period of time apart during his military really impacted how we view the moments we get.

On this particular morning we took the smallest of the hooligans to a magical place called Butterfly Wonderland.

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Then we went and looked at all the chrysalis. A nursery of baby butterflies. I didn’t know that chrysalis’ come in every texture and color I could imagine. The kids… and me… really loved catching the chrysalis’ shake while the butterfly tried to break out into the world.

Next to the gorgeous Butterfly Garden where butterflies are free to flutter about. This room is designed to look like a rainforest with plants and flowers everywhere. And WOW it was absolutlely beautiful, peaceful and exillerating. Ellie and Four ran around delighted by the little flying jewels and the coi pond. At the time my hair was really really purple so the butterflies really couldn’t figure out why I wasn’t edible.

My favorite part of this entire day was watching my husband with our youngest daughter and yougest son. My husband is an amazing father. Always taking the time to explore the world with our five children. In married life there are always moments that you find yourself falling head over heels for your spouse.

Life gets busy. We have jobs. He is in school. Before he was busy doing army things. We have a whole heck of a lot of kids that always need attention or conversation or guidance. But there are moments where I look up and the world stops. This day was one of those days. The relaxed, joyfulness of his time being spent exploring these little flying bugs with a four year old and a 6 month old really made my heart soar and my stomach flutter.

I found a man that loves me. That adores the humans we are raising… that loves babies and toddlers and children (and eventually teenagers but we shall see how much he loves that) being a father . That sits still for minutes and minutes so he can let his four year old inspect the butterfly that land on his head.

I am so glad that we have the life we are building. That we get to rediscover the world through the eyes of our children. Those moments make me rediscover the love I have for my husband. Day after day.