Thursday, November 26, 2009

blueprint study

Yesterday was the annual visit to genetics at Sick Kids Hospital in TO. It was a lovely drive through fog, rain, and wind - at least it wasn't snow! The genetics counsellors and geneticists are following both Rachel and Janneke as they grow and develop. Meeting with them is helpful, though often more questions are raised than answers. They also speak an entirely different language (big medical terms), and we tease them about that as they are examining our girls.

We are blessed with very compassionate and intelligent specialists. They are obviously intrigued by our girls for research reasons, but they also desire to help us in caring for Rachel and Janneke. When we are discussing our family, they also ask how we are managing. They seem to understand this is more than just looking at two kids with an unspecified syndrome.

And that's where we're at: an unspecified syndrome currently under investigation. We did learn there may be another family in Canada with a similar situation (two siblings with similar characteristics), but only time and more testing will tell. We have been reminded that this is a unique circumstance; there are no clear cut explanations.

I guess that is where it gets tricky. Do we need a diagnosis? Some say "labels belong on cans - not people" yet when a child has an official diagnosis, it validates the concerns a parent has with their "not-normal" child. It sounds strange, but with a diagnosis, you have a sense of belonging - to a (albeit small) group of others like you.

For now, we have more testing ahead, mostly of Rachel since Janneke is too young. Rachel will have hormone testing in mid-December (a full-day procedure), a sleep study soon, and an MRI in the new year. Hopefully, these will help add more information to the question of a growth-hormone deficiency.

Tomorrow's job is to find a good kids' video on DNA, our secret code - God's incredible blueprint. Em and Soph are asking more questions about genes and chromosones, and I need a quick science review. Oh, and yesterday, we were asked yet again if Ralph and I were related. Since we both share Dutch roots, we've been asked that often. We realize Holland is a small country, but I think it's safe to say we are free from intermarriage going back at least a few generations!

spot

Happy American Turkey Day. Have fun shopping tomorrow at 6 AM, Carla.

4 comments:

superstarmom said...

Ryan and I keep getting asked if we're related too! And we're not even both Dutch!!!
I'm so glad the doctors are taking a genuine, caring interest in your family. That truly helps.

And yes, there is definitely something to be said for being validated. Thinking of you guys :)

Jess said...

Well, I'm glad we're related, and you and Ralph are not. Check out a youtube video on Laminin. Maybe you've seen it. The guy's name is Louie something or other. Just try not to pay too much attention to the piano music in the background.

Anonymous said...

WHAT... who told you! Actually it was 7 am thank you very much and I think this is the first year I have ever gone, and I did get two cute sweaters and water bottles for the kiddos and it only took 1/2 hour and then I went to work out at the Y. Ok, have I justified it enough yet?
Hang in there, and we're thinking of you!
Carla

Anonymous said...

Hi Sara, Joy VK here. Caught up on your blog. You may want to check out Creation Ministries International. The people working there are very helpful and may have some suggestions for you regarding the DNA video.