So here we are. Finally. I have wanted to start this blog since Patrick was diagnosed, but time was never my friend. So since Tuesday is PKS awareness day, I said I am done with excuses!! This is one way of spreading the word about this disorder and all of the amazing PKS kiddos that Patrick shares this with.
Now first of all...no judging on my grammar, spelling, etc. Yes I am technically a teacher (on a little vacation at the moment), but I have 2 excuses: 1. Exhaustion, as I will be writing this at midnight most nights when it's quiet and I have my free time to reflect on my crazy days. 2. Autocorrect-we have a love/hate relationship!
Tuesday is 12-4, which was chosen to be the date of PKS awareness day, because of the 2 extra parts of the 12th chromosome. So they have 4 parts of chromosome 12. Recap: you are suppose to have 2 and they have 4. No pop quizzes on genetics tomorrow.
People with PKS have a wide range of health issues as well as global delays. Each person can have a different variation of these. Patrick has been blessed health wise so far, but is severely delayed cognitively and developmentally, and very low muscle tone. But some kids have had numerous surgeries on a various number of things, such as heart defects, cleft pallets, hernias and many others. Seizures are very common as well, but again, Patrick isn't showing signs yet, but we are keeping an eye out, because they can develop later.
Patrick was diagnosed on March 31, 2011, when he was around 10 months. We started to notice that he wasn't making some milestones around 5-6 months. He started out with early intervention services and then a few months later our pediatrician recommended seeing a geneticist, because of some facial features that were beginning to become more prevalent(wide nose bridge, sparse hair growth and just "a look" in general). When we walked into the geneticists office, she knew right away what he had(yes, she was that good!). And the blood test confirmed it a week later. It was a blurr for us for a while. Just going through the motions and trying to figure out what we are going to do next. But part of me was actually relieved. We spent months knowing something wasn't quite right and you would get a lot of people saying he was fine, because all kids learn differently. But that motherly instinct kicks in, because I just knew. So before we left the office that day, I told the doctor that I needed some sort of resource to study up on this or I was going to go home and google it(and we all know how well that would turn out). I would find the worst case scenario and that would be it. Luckily she gave me the PKSkids website(which I have a link to on here) www.pkskids.net. Let me tell you, this website is amazing!!! It is run by parents and they have a link for us to communicate with each other on issues and share ideas and stories. Now I probably don't get on there enough, but these parents on here are just superior!!! They all have such dedication to their children's success and well being! I have learned so much just from reading their posts and stories. We also had the opportunity to meet some of them this past summer and they are all just great people! These parents are the ones advocating for their kids and this disorder to raise awareness and get these kids the resources they need to succeed. They have motivated me to try and do more!! Hence the reason you are all subjected to reading this! So anyways, the website is not just for parents, it is also to spread the word on PKS, so go there and educate yourself on it....because you never know when I will give you a pop quiz:). There is also a link for donations, which are tax deductible, and a PKS store, which has lots of cool stuff to buy. So you know how you wander around a store trying to think of something to buy someone for Christmas....you will no longer have to do that. Get those 30 minutes of your life back and buy something PKS. It's for a good cause......research, to help families, our medical conference and to start a medical registry.
Now my plan is to write as often as possible. I can't fill you in on every aspect of everything tonight...that wouldn't be any fun! I will mostly focus on Patrick's progress and then talk about the rest of our crazy family. So my family and friends beware!!! I have always said we would get awesome ratings if we had a reality show...we are that crazy. But seriously, we have an amazing support system and Patrick was definitely put in this family for a reason!!! We learn way more from him then he learns from us!! He is an amazing little boy, as you will come to see.
Oh....I have to give a shout out to our good friend Andrea, who gave me the name of the blog😉. Patricks nickname is bubby. It's kind of weird saying Patrick, since we use bubby so much!
No comments:
Post a Comment