Has it really been almost 4 months since I last blogged? I guess I'm not very good at staying current on this thing. We have a lot going on this summer, so I'll try to do better at keeping you updated. But for now, I thought I'd spend a little time catching you up on what's been happening.
First thing's first....Our boy turned 9 years old on May 24. I CANNOT BELIEVE HE IS NINE!!!! Where has the time gone? It feels like not so long ago, we brought this tiny little guy home from the hospital for the first time. I remember how small he was. Now, not so much. He's huge. He is about 4'4" tall now and weighs about 60 lbs. You read that right, 60 POUNDS! And yes, I am still picking him up and carrying him. I know I should make him walk more, but when I pick him up, he gives the best hugs, and well, I enjoy his hugs. He just finished 3rd grade. He will be in 4th grade next year, and I'm struggling with that one. 3rd grade still sounds like lower elementary, but 4th grade is one step away from 5th grade, and 5th grade is just too old. He is growing up far too fast. Last night, he was sitting with me in the recliner, snuggling before bed, and I asked him if he will still sit with me and snuggle in the recliner when he's 17. Of course, by then, he will be bigger than me, so I'll probably be sitting in his lap.
We had a fun party planned for him with many of his friends and it was going to be on his actual birthday. We had reserved a place at the park where we had his 1st and 2nd birthday parties. But he came home from school the day before with fever, and he woke up the next morning, still running fever. So we had to cancel his party. I was very sad to cancel it. We plan to reschedule, but we have not decided on a date yet. Fortunately, he just had a sinus infection and after a course of antibiotics, he is doing much better. We go this afternoon to see his pediatrician for his 9 year well visit. I still can't get over him being 9.
Onto the next thing, and that is his health. Health wise, he is doing fantastic. He's growing like he should and there have been no major illnesses, and thankfully, no more hospitalizations. I get asked all of the time what John has. In other words, does he have some kind of genetic syndrome that explains why he is the way he is. And I always have to answer that question with "he's just developmentally delayed." Well not any more. We officially have a genetic diagnosis after 8 years of searching.
You may remember that last spring, we had some blood work drawn on John as well as Tommy and me. They were going to do genetic testing called Whole exome sequencing. Please don't ask me exactly what that means because I just don't know. But in a nutshell, they take a close look at all of his pairs of Chromosomes and check for any abnormalities. This could mean chromosomes that are completely missing or that maybe has a missing piece. The process takes 4-6 months so we didn't sit around everyday waiting to hear results. We finally went in to see the Geneticist in August and he went over the report with us. There were several "affected" Chromosomes in John's DNA, however, for everyone of his that was affected, either Tommy or I had the same one that was affected. Because we do not have the needs that John has, none of these explained why John has the issues he has. So the doctor requested the lab send him the expanded report so he could take a closer look. And on Halloween day, I got the phone call we've waited for 8 years to receive. It was Dr. Brown and his words to me were "We think we have an answer regarding John." I couldn't believe it. I never thought we would ever get that answer. Of course that would mean that they would need to check his DNA to make sure that specific gene was indeed affected and confirm the diagnosis. A few months later, we went in for a visit and sure enough, it was confirmed. Our boy has a genetic syndrome known as Ohdo Syndrome. Never heard of it? Neither had we. In fact, neither had his doctor. We always knew John was 1 in a million, but actually, that's about the percentage of people in the world with this syndrome. It's very rare, and relatively new as far as genetic syndromes go. It was discovered in the 1980's and then later a variant of Ohdo Syndrome was discovered and they call it Ohdo/SBBYS. This is the variant that John has. And it explains everything. It explains his respiratory issues, and his low muscle tone. It explains the ptosis in his eyes that he had surgically corrected at 3. It explains his global developmental delay as well as his intellectual disabilities. It explains why he has two teeth that do not have permanents and it explains why he's a poor feeder. And we discovered a couple of comical anomalies associated with his syndrome. Apparently, people with Ohdo/SBBYS has extra long thumbs and big toes. We never really thought about it before, but he does have these too. In fact the only thing he has that is not explained by this syndrome is retina problems. But there are a variety of other things that could have caused that. The good news is there is no real life expectancy attached to it, meaning he could live a full life. Some people with this syndrome have heart and kidney issues as well as missing or underdeveloped knee caps. John doesn't have any of these things. Because he doesn't have the heart or kidney issues, that makes it more likely that he will live a long and full life. And, there is nothing that we haven't already been doing that we should have been doing. And the especially interesting part about it is that this syndrome was not inherited from either me or Tommy. It started with John. So I think that maybe takes a little guilt off of both of us since it didn't come from either side of the family.
We have found a group on Facebook of parents who have kids with Ohdo Syndrome. It's been interesting to hear their stories and how similar we all are. In fact, these kids all have similar facial features, so it's like they all have a bunch of look-a-likes running around out there. There is one little boy in particular who is a little younger than John and every time his mom posts a picture of him as a baby, it could very easily be mistaken as a picture of John. They looked that much a like.
In other news, we had another successful year of Special Buddies at Shafer Elementary. We had a kick off event in October, a Bowling Party in December, a Winter event in December, a Special Buddies Field Day in May and an end of the year Zumba party in June. The kids all had so much fun together and you can really see the connection they each have made with their buddies. And on top of that, Emma's Special Knight Project successfully raised enough money to purchase the Sway Fun Glider and have it installed on the playground. We had a ribbon cutting ceremony for it in May and we made the news again. Now all of our kids, regardless of their abilities can play together at recess.
John is in VBS this week at Tallowood so I am hanging out at Starbucks until it's time to pick him up at noon. That is why I finally had the time to sit down and blog. I'm sure I've left some things out, but I hit the highlights. We will be going back to Austin on June 30 to spend another 3 weeks doing Therasuit Therapy for John. He did so well with it last summer, we thought we'd give it another go. This time, instead of fighting with a hotel and having the drama that comes with that, we have rented a 2 bedroom house. I have corresponded with the owner via email and he is such a nice man and has been more than accommodating for us. Our friend in Austin even met the owner at the house and checked it out for us to make sure it meets our needs. So we will have more space to spread out and hopefully avoid the germs that comes from a hotel room. I hope to blog more this summer and keep you posted on therapy.
