The Genetic Doctor

We met with the Genetic doctor on Friday. When I was checking Austin in, he said hello to us. He had a spongebob tie on and I immediately knew we were going to like him. Don’t get me wrong, it wasn’t all about the tie…he is genuine and kind. He is very familiar with The Down Syndrome Guild of Dallas. He had positive things to say about Austin. He was impressed with how strong he is and his development. He also mentioned how incredibly rare Austin’s form of Down syndrome is. Translocation does account for 3 to 4% of all Down syndrome cases. However, what makes Austin’s case so rare is that part of Chromosome 21 attached to 22. Usually, 21 will attach to chromosome 14 or 15. I asked him how often he’s seen the 21 translocate to 22. He said, “I can’t even remember the last time I saw a case of 21 attaching to 22.” Keep in mind, Dr. Wilson has been a Genetic doctor for over 30 years. I already knew 21;22 was extremely rare because I’m an information junkie. I researched it and really couldn’t find ANYTHING…which is why I asked him how often he’s seen it.

Sometimes I feel like I’m obsessed with knowing EVERYTHING I possibly can about Down syndrome. The more I learn, the more I want to know! The fact that Austin’s case is so rare makes me want to know even more! Dr. Wilson asked me if I was a nurse. As he was examining Austin…I was telling him, “No, he doesn’t have the single crease in hand. Yes, his pinkies are slightly crooked. Yes, there is a semi-bigger space between his big toe and 2nd toe. Yes, his ears slightly fold over at the top” I hope that didn’t bother him. Dr. Wilson said it will interesting to see how Austin continues to progress and how his speech will be. He also said that he sees great things in his future. These are all wonderful comments from a Genetic Doctor who has infinite experience in dealing with children with Down syndrome. He said he really wouldn’t need to see Austin again. Also, he said I could email him with any questions, but that I probably wouldn’t need to since I “know so much already” about Translocation Down syndrome. While that comment is very humbling, I don’t “know so much” to impress. Rather, I love my son. I feel like I need to know as much as I possibly can to give him the best. It's the least I can do. I didn’t know squat about Down syndrome before Austin’s diagnosis. I thought Down syndrome only happened to women who were over the age of 35. I’m ashamed to admit that I believed some of the same stereotypes about Down syndrome that I’m now trying to put a stop to and educate others about.

Ryan and I had blood work taken to analyze our chromosomes. Based on family history, Dr. Wilson feels there is a high possibility that it came from Ryan’s side. Ryan said that he’s “felt” all along that it came from his side. Does it really matter what side it came from? No, not in the big scheme of things. We have Austin and he’s a perfect blessing. We wouldn’t change ANYTHING. I know that's hard for some people to believe or even comprehend, but it's true. However, we do want one more child and it’s rather important to know if one of us is a carrier. We will receive our results in 3-4 weeks.

If you are in the Dallas/Ft. Worth or Lubbock/Amarillo area and are looking for a genetic doctor, I would highly recommend Dr. Golder Wilson. If you don’t want to take my word for it, look up his credentials. He is AMAZING, to say the least. It’s so obvious that he does what he does because he has a passion for it.

How’s that for a genetic update?

I hope everyone had a fabulous weekend and if you actually read all of this…you rock! You rock if you didn’t read it all, too ;-)