Truth be told, I don't get to blog as much as I'd like, but I do really enjoy it and hope you find this helpful to learn about our family. It is terrifying to even draft this post, so please know that you are about to read some really tough and also relieving news.
Last time I posted was last fall and I wrote about Zachary's amazing progress through in-clinic and Help Me Grow in-home therapies. The progress he has made continues to be steady and encouraging. He has been adding short words to his vocabulary (we're now up to around 10-15 words), and is now pulling himself up and walking behind his push toys and holding onto our hands, even walking along the walls (getting closer to walking all of the time). He's feeding himself more often with a variety of textures and using a big boy cup with more coordination all the time. He is playing in new and creative ways and also imitating us more often. He can even climb the ladder on his Little Tikes slide!
I'm going to pause there as those who don't know us more closely may be reading this and thinking, "isn't that all stuff like a one or early two year old does?" Yep. It is, for a
typically developing child. For Zachary, these things are major accomplishments and results of countless hours of therapy at home, daycare and through the school team's support.
I wrote last time about the seemingly ridiculous number of tests that kept coming back normal and how frustrating it was. For about 18 months we were on that journey of "sitting, waiting, wishing" as Jack Johnson sings (although in a different context). Specialist after specialist was seen and blood, urine, ultrasound, MRI, MRS, x-ray tests galore were run and analyzed. Finally, shortly after the MRI /MRS results came back normal and we were still no where closer to where we had ever been to understanding WHY we've had the challenges we've had and why Zach has to work so much harder at, well, pretty much everything... So we decided to bite the bullet and see a Geneticist at the University of Minnesota, to see if they might have any clue.
By the grace of God alone, someone else cancelled their appointment on a snowy day early in December, which was offered to us (we otherwise wouldn't have gotten in until April). We showed up very late, due to horrible road conditions and me having no clue where I was going. They saw us anyways, which confirmed for me that we were supposed to be there. We had a really encouraging visit, and for the first time ever, we left with a hypothesis of what it might be and submitted the last blood sample of the year. They told us it could take 2-3 months to process and analyze all of the tests, but only 2 weeks later, we got
the call. And
finally a diagnosis came, a name for the road we've been on and what direction to go next. Zachary has a rare chromosomal abnormality, said to reach about 1 in 20,000 people, however we are the only family with this diagnosis in the state of MN at this time. Its name is Potocki-Lupski Syndrome (PTLS for short). Please don't Google it :) If you want to learn more, you can follow the link here:
http://www.potockilupskisyndrome.org/ Not all of these characteristics are present in Zach, and he thankfully is in the clear of any heart concerns that some of these kids face. He has also largely (although not completely) overcome his challenges with food coming back up. He does not appear to have as severe of complications as others with this same diagnosis face with their families, for which we are both thankful and also very supportive of other families we have met online who have shared the beautiful stories of their children and families on the same road we are.
Since knowing this for the last 9 months or so, we have learned so much and found so much comfort in the list of "what-ifs" going from a million+ down to like 30 things to watch for. Seriously - I can watch for 30 things. That is manageable. A million was not. It was a recipe for crazy and frustration and hopelessness. 30 can still drive me bonkers sometimes, but it is so much more approachable that I don't panic or worry so much. God has been so gracious to us in all of this, even in the fact that this diagnosis answers all of the questions and concerns we had and that the doctors expressed. Here is the main summary of the diagnosis that I have learned so far: Zach's brain cells are moving more slowly from the front of his brain to the back of his brain. Those cells are the "keys to unlocking" new abilities, skills and understanding and overall development. This includes fine and gross motor skills, speech, and some cognitive understanding as well. Long story short - with a lot of hard work from Zach, his therapists/daycare/teachers and us, he is likely going to be in a typical classroom by Kindergarden. If he's in an adapted classroom, that's fine with us too, but that's where it looks like he will likely be by then. That is A LONG WAY down the road :)
Anyways, we have shared this with our families and inner-circle friends and now we're ready for it just to be known to anyone who is curious. Please feel free to ask questions and know this is written for his benefit to have people who are knowledgeable and continue to welcome him with open arms and loving hearts.
Thank you for those who have walked with us while this was not public information and for those who have wondered, but honored our privacy and waited for us to be ready to share, we are thankful for you all.
