Wednesday, May 26, 2010

Water Under The Bridge

I can’t believe it’s been over a week since I’ve updated. I’m so behind on reading all of you, so please bear with me.

Austin has therapy twice a month. Well, I should say “had” therapy because guess what? His therapist said she would like to reduce his therapy to once a month because “he doesn’t need it.” As of right now, he’s not delayed, at all. In fact, he’s actually ahead of where he should be. Yes, I’m bragging. I can’t help it, but I’m so proud of my little man. Having said that, I do wonder when we’re going to see delays. As happy as I am that he’s doing so well, I can’t help but wonder…”When are we going to hit a hard spot or get stuck.” Call me a pessimist, if you must, but I can’t help but have these thoughts.

I went to a meeting for “Parents of babies with Down syndrome.” It was through The Down Syndrome Guild of Dallas. It was comforting to meet parents that are in the same situation as I am. There was a 4 week old baby there and he was so adorable! It made me realize how much Austin’s grown! Ryan didn’t go with me because he was sick with a sinus infection (not contagious!). I wanted to bring Austin, but it would have been challenging without Ryan, so I opted to leave him at home with Daddy. I know I’m only 3 months into being a parent of a child with Down syndrome, but I cannot begin to tell you how far I’ve come. As I sat in my chair, I wanted to badly to tell the newer(than me) parents and parents to be that it’s going to be okay. I remember the early days and they were hard. I had so many questions and fear. How could this happen to us? If I could tell new parents anything at all, it would be to EDUCATE YOURSELF. That might sound funny coming from someone who’s only 3 months into this, but that’s exactly what I did. I poured myself into books and of course, the internet… Mostly books, though. The better educated you are about Down syndrome, the better you’ll able to help your child thrive. I’m not saying you have to have a PHD, but that old saying, “Knowledge Is Power” is so true. Now…why didn’t I say this at the meeting? Well, I felt it wouldn’t be appropriate…seeing as how I’m the “new kid on the block.” ;-)

Ryan (which is my husband, for those who don’t know) has an older brother. Unfortunately, they do not speak and things between them have been awkward for the past 3 ½ years. It’s one of those situations that it’s been so long, I don’t think either of them can really recall the actual reason they’re mad at each other. I will say that Ryan has made several attempts to “reach out.” However, it does not appear that his brother wants to reconcile. Ryan and his brother are different. Very different. However, that doesn’t mean that both of them don’t have amazing qualities. They are both great dads. They both work hard and love their families. Ryan’s brother and his wife have a 2 year old daughter and they were expecting identical twin boys. Sadly, his wife went into premature labor yesterday and the babies were not big enough to survive. Regardless of what’s happened in the past, we hurt deeply for them. Those were their babies. They had names. They had ten fingers and toes. They had sweet faces. It’s just not fair. Now that Ryan and I are parents, we feel sadness on a different level when it comes to the loss of child. I couldn’t imagine having such a short time with my own child. Please keep them in your prayers. I can’t begin to imagine with they’re going through right now.

Have a great week, all. I’m off to catch up on reading all of you.

Sunday, May 16, 2010

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 ;-)

Sunday, May 9, 2010

First Mother's Day

I had a wonderful "first" Mother's day. Ryan let me sleep in until 10 (which is a HUGE treat!) Austin was asleep when I woke up and I HAD to hold him right away. As much as I loved sleeping in...I missed my sweet baby boy. Ryan and I are so blessed and I don't know what we did before Austin. He completes our life in every way.

This might sound strange, but I have such a connection with my fellow bloggers. I was in tears when I read about Sweet Ella Grace . Please keep Ella and her family in your prayers. I pray that she makes a full recovery. In fact, I KNOW and have faith that Ella will beat this!

I hope all of you had a blessed Mother's day.

Love, K

Wednesday, May 5, 2010