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!


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

Tuesday, November 17, 2009

hello again

Everyone needs a little therapy.... This is a pic of Rachel, her older sisters, and her cousins from Aunt Jess and Uncle Tim.

We are managing things here at the home front. We are waiting to hear the scheduling for Rachel's sleep study (a slumber party with Dad at Sick Kids!) and the hormone testing at Mac in Hamilton. In the meantime, we will take a day at Sick Kids next week to meet with genetics. Perhaps we will learn more to help our girls - or we will have more questions again. Not sure of what to expect.

We started reading with Em and Soph "Views from Our Shoes" a book on loan from Tammy who knows too well the journey of being a sibling to someone with special needs. (We decided we will write our own book, Thoughts from the Pots.) Views from Our Shoes includes short notes from kids, ages 4-18, who write about being a sib to someone with special needs. The writings are honest, funny, and sad. It has been good to read as a family.

Here's a couple of snapshots of Janneke and Rachel. They are beginning to interact a bit together. Rachel likes to put her hands on Janneke's legs, and Janneke crinkles her eyes (her smile) at Rachel.

Thursday, November 5, 2009

another week

We are in the middle of an unusual week - several appointments in three different cities. So far, we've been to Hamilton for the pediatrician, TO for sleep assessment (do you call them sleep doctors?), and Kitchener for vision follow-up. We also had a phone conversation with genetics at Sick Kids, and we will be visiting them in TO at the end of the month. We are currently investigating the possibility of a growth-hormone deficiency in both girls. Tomorrow is another appointment at Mac in Hamilton. We are learning new things about both Rachel and Janneke, and we are blessed with patient doctors who took a lot of time to meet with us. Interestingly enough, the first thing our pediatrician asked about was me - How are you coping? he asked.

Good question. This past week, the dragon of overwhelmedness came and I couldn't find my sword to slay it. When your confidence and strength breaks down, when you feel as if you are suffocating, it's quite probable your body is saying ENOUGH. And so my body spoke. Ralph was able to take some time off work so he could help me out. Without going into the rest of the details, I'll simply say it's interesting how those lowest of the low moments are actually good for you, causing to review what is truly important. Frustrating how those same moments shake you to your core and make you feel vulnerable and even ashamed.

Yet, blessings continue to abound. Though we were managing with our own meals, the week that everything came undone, we received over twelve meals (for freezer too) from four lovely women. Carolyn came along to the appointments when Ralph could not. Neighbour Nancy has been furiously raking our leaves, for which we are grateful, and neighbour Mark was willing to stop by last night when we had some concerns about our van. We know that God continues to work through His people.

Rachel's stander arrived last week, and she is loving the upright position. I wheeled her to the piano for the first time in the stander, and her hands immediately extended out to play the keys. She absolutely loves being a "big kid". We are so thankful for her joy-filled disposition, giving everyone smiles as we go from appointment to appointment.

Janneke is improving health-wise, and she is opening her eyes wider now. I say that because her eyes are not big to begin with, and her actual smile has yet to come. Instead, I feel like she is communicating through her eyes, and in the last few days, she's been trying to "say" a lot.

We have started work on our therapy room. It already has a ball "pit" - a wading pool full of small balls that all four girls love. It is a crazy toy to put in your home, but it provides an unique sensory experience for Rachel and Janneke. (Thanks for the idea, Bernice.) Now Em and Soph have to quit the target practice on each other with the balls... : )

Thanks for your warm fuzzies and prayers. I think most of us to some degree would like to think we have "it" together, but truthfully, aren't there times when that is far from the truth? Perhaps the more we are honest with each other, the more we can also trust each other and encourage each other as we move along this journey of life.