March 8, 2010

A Ds Event and the Cystic Fibrosis test

Yesterday, Sunday, I attended my first Down syndrome family event. Is it ok to say I was really scared to go? Even though I have a daughter with Ds, I have never been around other children with it. I had no idea what to expect and I feel ashamed to admit that all those preconceived images danced in my head. The event was held at a gymnastics center. It was huge and there were a ton of parents and kids (with and without Ds). I got to see a couple moms that I met at a mom's night out some months ago and I got to meet their children. It was a wonderful event! Kids were running and jumping and laughing and parents were running and jumping trying to keep up with those kids. There was a little boy who isn't able to walk yet but he was scooting around on his butt like nobody's business! I cannot believe how fast he was moving. There was a little girl exploring and no matter how many times she tripped over a mat edge and fell, she got right back up and kept moving. There were no tears from that girl. She even made a point to stop and wave hello to another dad on the ground. Typical children played with children with Ds and there wasn't any staring or whispering. If only the rest of the world was like that one day in that gymnastics center. What a wonderful world it would be!

Today, we took Rachel back to Brenner Children's Hospital to be retested for Cystic Fibrosis. At the time of her birth, they tested her blood for it and it came back with a positive indication. Stephen and I didn't find out about this test until after we had already brought her home from the hospital and I was reading through her discharge papers. Needless to say, I was horrified and scared. I called the hospital right away and they reassured me that the test gives a lot more false positives than true positives. Rachel's blood was also really messed up after her birth because she lost most of it and received 2 blood transfusions. So, we were hopeful that she would be fine. To do the test, they have to collect sweat from her. They cleaned her legs then applied a medicine to help her sweat. Over that medicine, they put some wet gauze and then an electrode to stimulate the sweat glands. They kept that on her for 5 minutes. As far as we could tell, she didn't feel anything and in true Rachel form, she smiled through the whole thing. After that, they re-cleaned the area, put a piece of gauze on her leg to collect the sweat, covered it with plastic, taped that down, covered it with more gauze, then plastic wrap and then more gauze. Wow. They had to do the test on both legs. It took over an hour total to do the whole thing. Here she is being so good and waiting for the test to be over. You can see the gauze on both her legs...

After the test was over, they took off the outer wrapping, carefully removed the gauze that was on her leg inside of the plastic and put it into a glass vile for testing.

The woman who preformed the test said that the pediatrician would call us if the news was good but if the news was bad, then she or the genetics counselor would call us. We were told the test may be completed today but we couldn't count on it. The trip from Benner's to our house is 45 minutes. We walked in the door and the phone rang. On the caller ID is "Wake Forest Uni" which is the hospital. I'm thinking, wow, this in not good. I answer the phone and Stephen is already starting to freak out. The woman who preformed the test informs me that Rachel's test results were in and that she is NEGATIVE for Cystic Fibrosis. She also informed me that she isn't supposed to call and tell us but she wanted to let us know. What a wonderful woman! We are so happy to have that test done and out of the way. On to other worries...and there are certainly enough of them to choose from!


  1. So happy to hear that Rachel's test came back negative!! That must have been a tremendous relief!

    And yes, it's ok to say that you felt a little scared about the Ds event. Our first one was the Buddy Walk, when Lucy was 3 months old. I was excited, and nervous, and was pretty sure I was going to throw up! Ha ha.

  2. I am so glad she is doing good. YAY for no CF!

    She is just so darn cute!

    Thanks for the comment on Reese. He was a great dog- we miss him terribly.

  3. Congratulations on the negative CF test!!! And kudos to you for already having your first Ds event under your belt. Can I be honest and tell you that, I couldn't even look at older kids or adults with Ds until Eon was about 9mos. old? I just wasn't ready to face our future. Now, I can't wait to see the man he will become! Needless to say, though, our first Ds family event kind of freaked me out. So glad you had such a positive experience! :)

  4. Once again, I laughed, I cried. Congrats on your first Ds event... I hope Rachel made some friends! Nice shirt in the 1st picture. :D And thank God the cf test was negative...

    Love you guys!


Thanks for your comment! I love mail!