Stories

The only way through is through

November 25, 2024

Dear Rare Disease Parents,

Here we are together, like it or not.  I’ve had 20 years to get used to this adventure.  Some of us have had a lot more time and some far less.  But, here we are, the club no one wanted to be in.  I’m going to talk a little about our journey and give you some advice from my perspective

Our journey began a little before Simon was even born.  This was a bit unique 20 years ago.  My pregnancy was normal until the ultrasound showed some markers that threw up a red flag.   Fear and anxiety took over and I needed to know, NOW!  I had an amnio done and waited.  Those days and weeks where there is always something lurking over your shoulder?  Yep, that’s what it was like.  The first test was inconclusive, and the doctors were going to let it ride, but I needed to know, NOW!  A few weeks later, Mayo Clinic definitively diagnosed our baby with Pallister-Killian Syndrome.

Each and every one of us reading this knows that feeling.  That gut clench?  The dread?  The fear of the unknown?  The emptiness and loss?  Horrible, awful feelings we never expected to go through, especially in regard to our babies.

One thing I was good at was pregnancy and babies.  This diagnosis hit me like a ton of bricks.  After Simon was born though, I saw little ways God may have been preparing me for this experience all my life.  My love of working Special Olympics in my teens and 20’s.  The baby sitting I did in high school for a girl just a few years younger than myself, who was profoundly disabled.  I always thought it was odd how her mother would come into the house and sing out “Hi LoriAnne…how was your day, sweetie?”     I get it now and I bet you do too.

However, 20 years ago, there was no organization or support for the diagnosis Simon received.  20 years ago, the only information anyone could give us was this:   On every website I could possibly find.  From each doctor, because that’s all THEY could find.    We had absolutely no idea what to expect once our baby was born.

Simon’s birth was everything I could have hoped for with this diagnosis.  Our doctor agreed we should deliver in our small town, local hospital.  We spoke with him about what we wanted to happen “in case”.  We even had our priest on call should we need him.

Simon was born with nice APGARs but had trouble maintaining oxygen levels.  He also was immediately given a feeding tube (We think because of his cleft lip).  He ended up transferring to a NICU in another hospital.  He only stayed 6 days though and looked quite the giant at 8 lbs 12 oz compared to those teenie sweet babies.

We came home and hit the ground running.  To this day, I’m thankful for learning his diagnosis before he was born.  It gave me time to grieve but it also gave me time to talk to Early Intervention to get him started almost immediately with whatever they could offer him.  Simon was only a few weeks old when they came to assess him and start him doing some PT and OT.   Besides, Early Intervention, there were the endless rounds of doctor visits.  Specialists of every kind.  Ruling out this, confirming that.

There were dozens of new acronyms and terms to learn.  You know… PKS, PT, OT, EEG, EKG, ABR, IEP, hypospadias, hypopigmentation, hypoplasia, dysplasia, dismorphic…… we should write a jingle!  Along the way, he ended up with a helmet to correct skull flattening, cleft lip surgery, multiple EEGs, a c-pap for apnea and more.  Many of you know this routine as well as I do! 

When Simon was 2 years and 8 months old, I talked the school into admitting him early.  I knew they were going to give him all the things he needed to be the best Simon he could be, while I could step back from the role of therapist.  I got to be only Simon’s mom for the first time!!  And that really felt good.

Here I start with some advice for you newer parents…. if we focus too much on our child, we can lose ourselves, and in doing so both we and our child will suffer and maybe also, our marriage and our other kids.  Striking that balance can be hard, but I believe it’s vitally important.

Simon attends an amazing, all special needs school.  He is bussed to school year-round and it is seriously OUTSTANDING!  He receives all his therapies at school. With his class, he has baked banana bread while operating the blender with a switch.  He has been a hallway greeter, sales clerk at the class store, has had the task of returning lunch trays to the cafeteria.  Anything they can do to include the kids or introduce them to something new, they try it!  The staff supports Simon’s needs, they support our family, and they support PKS awareness.   Which I find especially awesome.

To all of you who haven’t reached the school age yet, I want to tell you something that I believe is okay to admit.  Sometimes inclusiveness or integration isn’t the best place for your special child.  It is wonderful for some of our kids and others will benefit more from a school that is geared toward them instead of them trying to fit in to a school not as well equipped for them.  Simon THRIVES in his school. They are experts in kids with his needs and he gets far more help, attention, and support than he’d ever get from an integrated or inclusive classroom or school.

Which brings us to today.  Simon hasn’t really advanced in a number of years.    We had a news story done about PKS when Simon was under a year old and I remember saying, “if he walks and talks and maybe even is potty trained, that’s all I hope for”.  Well, as you know, those are pretty major hopes in our world.  Simon hasn’t come close to even a possibility of a hope of a glimmer of achieving any of those things.  Heck, he still won’t hold on to a toy!  Over and over and over I say how thankful I am for his great health and very nearly 100% of the time that is the only thing I care about.   I’ve come a long, long way since I hoped for him to communicate and use the potty!

I’m telling you, Simon ALREADY IS the best Simon he could ever be. 

I really don’t have any aspirations for Simon anymore, but not because we’ve given up, but rather because we’ve accepted Simon.   Enjoying a walk outside?  Enjoying the breeze?  That’s perfection for Simon.  He doesn’t need to be on the jet ski or swimming in the lake or climbing the dunes.  Simon has the best of everything!  His every need is met. He is fully loved.  And most of all, Simon is HAPPY.  Everything else is just fluff.  So, please don’t be hard on yourself at any stage of the game if your child hits a lull in making progress.  Don’t consider it a fail if you just can’t take on one more type of therapy or one more appointment.  Chances are your son or daughter is going to be just fine with it.

I found this quote long ago and put it on Simon’s website.  Very wise words about this journey we are all on.

“Motherhood is about raising and celebrating the child you have, not the child you thought you would have. It’s about understanding that he is exactly the person he is supposed to be. And that, if you’re lucky, he just might be the teacher who turns you into the person you are supposed to be.” ~The Water Giver~    

 As for the future?  I know it will only get tougher.  Simon has outgrown my strength for the most part already.  Finding care for him is hard and I can’t imagine it’ll be easier the older he gets.  We’d love him to be at home with us for as long as possible, but we also want to enjoy our older years of retirement. I pray we find that balance. I simply decided long ago that I won’t or can’t look far into the future.

“Pray, hope and don’t worry” is how I manage it.  Simon has come a long way and he’s done it his way!  That’s all I can ask for and hope for.

By Gretchen Peters
http://www.pkskids.com

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