9p Minus Awareness Day

I am incredibly grateful to all of the people who read the last blog post and shared comments here, via e-mail, and on facebook. It is so touching to know that so many people are cheering for Isaac.

In honor of 9p minus Awareness Day (Today, 9/9/13)

I met someone a few weeks ago who'd heard something of our story with Isaac. She said, "I just feel so bad for you and everything you've been through." Her statement struck me as odd and I quickly brushed it aside--maybe only because I'm in a vastly different place than I was over a year ago. I suppose I did want to hold a big old pity party on the day I read those bold letters that formed the words, MALE ABNORMALITY. The grief that took hold of my heart in the months that followed our meeting with the geneticist, just about did me in. Grief is a good thing--I don't believe anyone can truly find the beauty in the unexpected unless they grieve what is lost.

When the term, "9p minus", became a part of our lives, I had to grieve the loss of the son I'd planned for. The son I would teach to drive stick shift, the one with whom I would dance at his wedding, the one who would stand up for his big sister--those losses, and more, I had to grieve. When Isaac was placed on my chest for the very first time, and everyone said, "I'm sure the shape of his head was caused by a birth trauma", I knew that wasn't true. The moment I laid eyes on Isaac, I knew in my heart we were about to embark on a very different path. If you've been reading this blog for any length of time, you know that we did not have genetic testing done until Isaac was fifteen months of age. Initially, we were told by Isaac's neurosurgeon that the craniosynostosis was completely spontaneous and unrelated to any genetic abnormalities--later we found out he'd never heard of 9p minus, most people haven't. Our main concern after Isaac's birth, was to correct his skull, enabling proper brain growth. Eventually, other concerns regarding his development cropped up which ultimately led to genetic testing. After we waited over a year to find out what it was we were truly up against, I sometimes wondered why the chain of events hadn't happened differently. It didn't take me long to accept that God knew the entirety of information would be too much. One thing at a time, but always with that nagging feeling to seek out more doctors and seek out more solutions.

I've never been mad that we didn't learn about Isaac's genetics right after his birth. We had time to know him just as Isaac and not, this is my baby Isaac, and he's a little behind developmentally, but that's okay because he has a genetic abnormality. Don't worry, I'm not forgetting that he did have a head shaped like a triangle, so it was more like, this my baby, and well, you know those sutures across your skull...yeah, don't worry, I didn't know about them either...but anyway, one is fused and now they have to take part of his skull apart and piece it back together...kinda cool, right? Not. Anyway, I'm just trying to say that I do believe everything worked out just as it was supposed to.  

Since Isaac's diagnosis, I have heard similar stories. Parents have struggled, at times for many years, to get a proper diagnosis, only to find out that there is hardly any information regarding their child's abnormality because it is so rare. Oh the layers of frustration, sadness, grief, and loneliness. When I discovered the 9p minus Network, I was finally able to connect with parents sharing a similar story. Every single story I have heard is full of compassion, grief, perseverance, sadness, acceptance, and more than anything else, love. Love abounds and parents endure experiences they never imagined would be their own.

I never could have imagined loving a child with special needs. Until I was given Isaac, I never believed I could do it--yet here I am, feeling blessed in this journey.

With that said, today is 9p minus Awareness Day and I feel compelled to honor this day for Isaac and the four hundred other people (worldwide) who share a similar chromosomal abnormality. I write "similar" because really, no two are alike. Not only is Isaac's diagnosis extremely rare, but within the diagnosis of "9p minus" there is an array of developmental delays and health issues that may affect one person and not the other. 

The parent volunteers, and doctors associated with the 9p minus Network, continue to offer resources and information for families like ours. Our family is incredibly thankful for how they've raised awareness and connected one family to another so that we do not have to feel alone in our experiences. Though various health issues and developmental delays span from mild to severe, we are able to support each other because we hold a torch of never ending hope for our children to achieve more than any doctor or therapist laid out for them, and ultimately, to lead a life full of joy and acceptance. As a mother, I long for Isaac to be accepted. And when I still have my moments of grief, because trust me, I still do, my thoughts always turn to what his life is going to look like in ten, fifteen, twenty years, and what I can do now, to aide in him reaching his fullest potential--that is my daily fight, and like so many other parents, I refuse to give up.

If you'd told me a year ago, that Isaac would be running and holding his weight up on a bar at the playground, I wouldn't have believed you. A year ago, he could barely take ten steps on his own.

A year ago, he stood hunched over because of low muscle tone, now he stands tall, and proud.

I can't wait to see what he accomplishes over the next year.

-Sierra