Saethre-Chotzen Syndrome

You’ve probably never heard of it, and why would you?  It’s a rare genetic condition that affects 1 in 25,000 to 50,000 people.  But I’m the lucky one, and so are my daughters.  It consists of craniosynostosis, which is a premature fusion of certain skull bones.  This prevents the skull from growing normally and affects the shape of the head and face.  There are other things associated with it, of which I have a low frontal hairline, droopy eyelids (ptosis), small ears, and a short stature.  Although in some cases these things can be pretty severe and noticeable, in our family it’s kind of hard to spot until it’s pointed out.  Our biggest tell is the droopy eyelids.

When I was young, I had to have surgery on my skull to separate the plates so my big beautiful brain had room to grow.  After that came surgery for my eyelids so it didn’t affect my eyesight.  I only recall bits and pieces of my time in the hospital and it’s hard to say if those are actually memories I have or memories based on stories I was told.  My surgeries went as planned and complication free.  As a kid I really didn’t think much of it, in fact I just thought the hospital thing was normal.  You have something to fix and doctors fix it.  It wasn’t until I was older that I realized it wasn’t normal and that people would think I was totally weird for being fine with it.  It really was no big deal, right?

I also had no idea what affect it had on my parents.  My poor parents.  And why would I? Children are so self-centred!!  When I became a parent  I truly understood the worry, the sleepless nights, the constant anxiety, and the very real fear of losing your child.

When I had my first, Oliver, I was nervous he would inherit it, and even more worried when he was born with a droopy eyelid.  But I found out that it’s actually normal for babies to have that, and it can quickly resolve itself.  He didn’t have it…Phew!

I had my second child, Julia, four years later.  Nothing was visible on the ultrasounds, and I remember thinking “well, if she has the syndrome we’ll deal with it then.  It’ll be fine.  I’m fine, and my cousin (who also had it) is fine.  Lots of kids have this and they’re fine.”  When she was born, she had droopy eyelids.  I was hopeful that it would be the same as my son.  But somehow I just knew this was different.  When we saw her paediatrician for the first time, I mentioned the droopy eyelids and the syndrome.  He kind of brushed me off, told me not to worry, and he’ll take another look next appointment.  That was probably our biggest mistake.  By about the 6 month mark she had formed a ridge on her forehead and I needed to be more pushy to have her seen.  It took another 3 months to get in to see someone and then she had to have scans, get the results and book a follow-up appointment.  She was just over a year when they told us she needed surgery, and it had to be soon.  The surgery consisted of removing the back of her skull and reconstructing it…not exactly an easy pill for a parent to swallow! My husband was a mess and I kept reassuring him that it would be fine.  I had every faith that the 12 hours of surgery would go smoothly, she would recover and we would be back to normal in no time.  I was so wrong…

Nothing could have prepared me for what we were about to go through.  At about 12 hours, the doctor came in with a resident and told us that she was fine now, but there had been a brain bleed.  They didn’t know exactly what had caused the bleed, but they had cleaned it up and she was doing fine now.  They were just finishing up and then taking her to the PCCU (Paediatric Critical Care Unit) and they would come and get us as soon as she was situated.  I just remember thinking “oh ok, but she’s fine now so it’s all good”.

It was so hard to see her after surgery, it broke my heart.  But you had to laugh because every time a nurse or doctor came in the room, she would throw her bottle or suckie at them!  I just knew that spunky personality is what would get her through everything.  But then came a parents worst nightmare.  I had gone home to shower and nap, only to get a call from my husband, the second I crawled into bed, that I need to come back to the hospital (about an hour away) because Julia was having a seizure.  My heart sank but I couldn’t let my thoughts get the best of me because I still had to drive on the highway.  When I arrived at the hospital, my husband was on the chair crying with a nurse rubbing his back and Julia was surrounded by doctors and nurses.  They were trying to put a direct line into her leg but they were having a lot of problems so they had to put it in her neck.  She still has that scar.  The seizure stopped and they told us she would be out for awhile and tried to explain to us about seizures.  But all I heard was the adult voices from Charlie Brown.  My head was spinning and I was so worried she would die.  We were constantly reassured that it would be okay.  Then, my cousin came to visit and my husband went to get food.  I looked over and saw Julia twitching and realized that it was another seizure.  I called the nurses who quickly took care of it.

Later on, I had that same cousin and my aunt visiting, and a doctor came in and told us that she’d had a stroke.  My whole world came to a halt.  Again, all I could hear were the adult voices from Charlie Brown.  So many questions were running through my head.  Was she going to lose her speech?  Would she lose function on one side of her body?  Was she going to die?  All of us were crying and I recall some of the faces of the other doctors and nurses, like “OMG I can’t believe he just said it like that to them!” which left me a little confused.

It was explained to us later, by a very nice doctor, that a stroke just means any brain bleed.  Then he brought up her scan on his computer and explained that by the looks of it, they probably hit her brain with an instrument when they were opening her skull.  He also explained that the seizures were just a symptom of what happened and there’s no reason she couldn’t make a full recovery.  After that I was pissed.  Why didn’t anyone else bother to explain it to us like that.  This dude wasn’t even her doctor and he took the time to explain the truth.  Instead, we get the asshole with zero understanding of human emotion, that thinks it’s totally fine to walk into a room of a young family and tell them so matter of factly that their one year old daughter has had a stroke.  What a dick!

From there, we had it under control (or so we thought) and left the hospital with instructions for anti seizure meds.  However, soon after, she started having localized seizures…a lot! And for the better part of the summer we dealt with seizure after seizure and the doctors were no help.  It wasn’t until I would give her the Adevan (the rescue drug) that I realized it was the only thing stopping it.  So we took her to emerge and explained what we had found and FINALLY a doctor listened and put her on a drug in the same family as Adevan and the seizures stopped.  We haven’t seen one since and I am so thankful.

Our latest offspring also had the droopy eyelids when she was born.  I cried this time.  I knew there was a 50/50 chance she would inherit the condition, but I couldn’t imagine going through all that again.  This time however, I made sure she had check ups and appointments scheduled for her head and eyes before we even took her home from the hospital.  There was no effing way anyone was going to brush me off this time.

She had scans done to see what had fused, but to everyones amazement, there really wasn’t anything significant.  You could have knocked me over with a feather.  I had come to this follow-up appointment expecting a date range they’d like to do the surgery and then have to wait for the phone to ring with an official date.  But nothing.  No surgery, no possibilities for complications with surgery.  I cried, but this time it was tears of joy!  She will still have to have surgery to fix the eyelid, but it’s a day surgery and small peanuts compared to removing a large part of the skull!

Being a mom is so much more than taking care of another human.  They are so much a part of you.  You feel so helpless when they’re in pain, you just want to take it all away and protect them.  You constantly worry and that will never go away.  And it’s all worth it just to see that smile and hear that laugh!