When I was a young girl laying in the grass looking up at the clouds, I often thought "When I grow up, I'm going to have a beautiful two story house with a white picket fence..."
Ok, so I didn't really think I'd have a white picket fence. I'm not really much of a white picket fence girl. I did want a big old two story farm house though and children. Actually, what I secretly wanted was to be my Grandma Lovadee. I remember watching her as a little girl and loving her life. My Grandpa was a farmer and Grandma was always on top of everything. Clothes hanging on the line, cookies baking, sandwiches and drinks ready for Grandpa and the farmhands... I loved the pace (which, as a child, I mistakenly thought was slow - turns out they work more hours than anyone else I've ever met!). I loved the country. I loved everything about being with her. That was the life I wanted. I wanted to be the farmer's wife... I wanted to be my Grandma. I still want to be my Grandma - she is one of the most amazing women I know, she always is so pulled together, so graceful, so beautiful, so much fun. I love everything about her!
Anyone who knows me now, especially those who know me well, know that I am the furthest thing from a farmer's wife. If my clothes were to make it onto a clothesline - well... I'd have to have a clothesline first! Let's be honest, they'd still be hanging in the rain and two days later and then the kids and I would fuss that they weren't super soft from the dryer. And gracious be - if I had farmhands to feed - the poor boys would starve!
While I very much miss living in the country and one day would love to live there again (as long as the house has central air conditioning and great internet service) - I'm really happy in town as well. I never ever would have seen that coming as a child.
It turns out there is a lot about being an adult that I never saw coming. There are a lot of things I've had to decide that I never knew families had to make decisions about. There is not a huge old two story farmhouse in my life.
There are 2 children, they were always in the picture in my mind, a boy and a girl. I had hoped for 3 children and technically there was a 3rd child but I miscarried early in the pregnancy. My son is the oldest - which is also what I had envisioned, oh how many times I had wished I had an older brother who looked out for me and brought home cute friends when I was younger! And my daughter is the perfect mix of a tomboy and a princess... exactly as I had hoped she would be.
What I didn't envision was either of them, let alone both of them, having a genetic disability - or any disability at all. That wasn't in my picture. Honestly, I didn't realize that could actually happen to anyone, let alone to me. Maybe I was naive but really, who thinks "One day I will have children and they will face a world of disability challenges that I don't even realize exists!"? Not me, that is for certain. My picture was bright blue skys with fluffy white clouds, perfect children running around the farm, while I baked cookies, hung clothes on the line, and made drinks and sandwiches for the farm hands. I never daydreamed of IEP's, medications, meltdowns, awareness, or advocacy.
I guess that's where reality comes into our lives. The reality is, I do have 2 perfect children. They are, to me, as perfect as they come. You can see in Parker's eyes more love than anyone I have ever met. He has a smile that makes your worst moments better. He would do anything for a friend, anything to make you laugh... he is my protector. Then there is Allison, who's imagination and creativity outshines anyone I have ever met, she is the peacemaker who avoids drama and fighting and goes out of her way to be sure her friends are all happy, she is my song writer, my gentle spirit, my belief in the really good things in this world. And the hugs these two give - there is no comparison. They give the most amazing, make your troubles melt away hugs ever. They are, in so many ways - absolutely perfect.
The other reality comes into play when you see the bigger picture. Both Parker and Allison were born with Fragile X Syndrome. Parker was diagnosed shortly before his 4th birthday and Allison when she was 7 months old. I had no idea that I carried the gene mutation or that it had been passed down in my family for at least 6 generations. I didn't know. None of us knew.
Until you get to know Parker and Allison, you may not see the perfection - especially in Parker right away. Some people can't see past the Fragile X, ever. Some people don't want to. It's part of the reality that we live with every day. It's part of the reason there isn't a white picket fence in our reality.
If you've never taken someone with a disability out in public before, you should. It should be part of a class in school. You really should and not just anyone but someone that you form a friendship with and care about. And then, take them out! Go to the grocery store, to the movies, out to eat - those things we do all the time. It's an experience I promise you will never forget, an experience that will change you - especially if the person you take out becomes overwhelmed and has a meltdown while you are out. While you learn to block out the stares, the comments and most of your surroundings - it's impossible to do so completely. Your senses are heightened as you are almost on guard, ready to explain, ready to educate, ready to stand your ground if need be. You learn really quick that inside you there is an advocate...and a fighter.
You will learn something more, something so much more important as well. You learn to appreciate the truly important things in life. You learn to appreciate the things others take for granted; a conversation, an unplanned trip anywhere, walking, placing your own order, making your own decision... freedom, opportunity, friendship, family... You learn compassion, you learn pride, you learn you have a voice. You learn things about yourself and others that cannot be taught in a textbook and that are not part of your dreams when you are younger. You learn about life. Fair or unfair, right or wrong, understood or unexplained... you learn - and hopefully grow from the experiences. And it won't end. I am learning and still growing, every day.
It has been almost 2 months since the news broke that the STX209/Arbaclofen was ending. Life without it has become our new reality. Both Parker and Allison are completely weaned off. Parker is on baclofen and his regression has been milder thanks to it. Allison has been completely med free and it is taking it's toll. Like her brother, her anxiety has returned and while we had hoped she would be ok without any medications, after 3 weeks we know this is not what's best for her and will soon be introducing something back into her day to help her out - the goal is to have her on the right dose before middle school starts in 6 weeks so she can start the year on the right foot...with confidence.
Parker was screened for the Novartis AFQ056 trial. It's one I have struggled with, greatly unsure of the right thing to do but yesterday that decision was made for me. I found out that Parker does not have 100% methylation according to the very sensitive new Novartis test. I am a person who believes everything happens for a reason, to me this was God saying "I'll handle this one and take it off your plate" the decision was made for me. While I will wonder what the medicine could have done, I won't focus or dwell on it only on what we can do and what we should do next.
For now, we are increasing the dose of baclofen with the hopes that it helps put him back where he was prior to the arbaclofen ending. If it doesn't work, we will try Acamprosate which is going into clinical trial for treatment of Fragile X and already on the market. We will continue to watch the studies and see what opportunities arise for both Parker and Allison. And, while I will miss our team at the Fragile X clinic - I'm more than ok not making that 4 hour one way, 8 hour round trip drive every couple weeks for awhile.
Once in a while, I think back to those daydreams I had as child. It turns out, at 39, I am - and my life is - nowhere near what I imagined as a young girl laying in the grass looking at the clouds daydreaming of the future. I'm not a farmer's wife, I'm not living in the country, there is nothing slow paced about my life... there is no picket fence. My reality is much different than my childhood day dreams.
While I never envisioned IEP's, specialty clinics, or Fragile X - it's here and part of what makes my children perfect and our life special.
I never dreamed I would have to understand the approval process for drugs (or even care), look at every angle of a clinical trial and determine if this was the right thing for my child(ren), or give them medicine to help the person they are inside shine to the outside world. It never crossed my mind.
Life has certainly thrown me a few curve balls. Some I have leaped
above and beyond to make amazing plays with, some I've just watched go
around me and a couple - well they've knocked me on my butt. Not a
single one of them were in my "When I grow up..." day dream but they are all
part of my grown up reality and have all shaped me into who I am and
want to be.
I'm not as amazing as my Grandma (either of them, I was blessed with two amazing and beautiful examples of incredible women as my grandmas) but I still strive to be better each day. I've accepted I can't really cook (although I can bake very well), that my clothes will likely never hang on the line (that I don't have) and that I lack their organizational and cleaning skills.
My house isn't a 2 story house (although I'd still like that) it is a
wonderful little split foyer home and it's mine (well, almost but that's
another blog). The fence isn't white picket but it's chain linked and
it keeps the dog in her own yard (the children's balls and toys... not
so much but thankfully our neighbors are awesome and understanding!)
My children though... oh my children... well, they really are perfect - I totally got that part right.
These days when I lay on the trampoline (because laying on the grass messes with our sensory issues) with my children, look up at the clouds and day dream of our life in the future I realize that sometimes what the reality will be is nowhere near the daydream. And, while it's different and often unexpected - it's usually way better, challenges and all.