Sit ups

Here is a video of Oaklynn doing her sit ups during Physical Therapy.

Giggles

My favorite is being in the other room and hearing this sweet little girl giggling. Her giggles make me smile. Hearing them is the best part of my day.

Parallel Bars

Oaklynn LOVES to be standing and walking. I think it makes her feel like a big girl. This week the Physical Therapist brought parallel bars for Oaklynn to walk with and she did such a good job. She was smiling the whole time and enjoying herself. She looks like such a big girl when she is up walking, I love it!

Pulling up

Here are some more pictures of Oaklynn checking her sister out. She is doing so good at pulling herself up to stand!

Smith-Magenis Syndrome

If you read my post "Diagnosis" you are aware that Oaklynn didn't only test positive for Rett syndrome but she also tested positive for Smith-Magenis syndrome. The people at the lab said they have NEVER seen both syndromes in a child before and that she for sure had it since her genes said so.

The geneticist thought that maybe there was a possibility that Austin or I had that positive variant in our genes as well and wanted to test us. So if Austin or I tested positive for having the Smith-Magenis variant in our genes, that would mean that we passed it to Oaklynn. Since we don't have the symptoms of Smith-Magenis (only have the genetic variant) than that would mean that Oaklynn just has the variant as well and doesn't really have Smith-Magenis syndrome. If we did not test positive then she would have Rett Syndrome AND Smith-Magenis syndrome and be the only child to ever have both.

We did the blood work the mid-March and right after Kynslee was born I called the geneticist to see if the results were in and if we could move the appointment sooner (we had it scheduled for the end of April). We were told that the results were in and I left a message with her assistant to move the appointment sooner. Oaklynn's geneticist called (and of course I didn't hear my phone) and left a message saying that one of us tested positive for Smith-Magenis syndrome!

So this means that Oaklynn DOES NOT have Smith-Magenis syndrome. She does have the genetic variant (as does one of us) but she does not actually have the syndrome even though her genes show it (because one of us has the positive variant but doesn't have the syndrome).

I hope this makes sense... it was a little confusing to me at first. If you have any questions, please ask!

**For those who are wondering... we do know which one of us has the positive variant but we aren't sharing that information because it doesn't matter. So please don't ask**

Big sister

Oaklynn is a BIG SISTER. When she first saw her sister Kynslee, she was all smiles and loved holding her little sister.

Now that we are home she is always concerned when she makes ANY noise. She stops what she is doing and just stares. Sometimes we wonder what she is thinking. I wonder what she would say about having a little baby at home if she could talk. Sometimes when Kynslee cries really hard, Oaklynn sticks her lower lip out and starts pouting. I think she just gets concerned with what is going on. She is already a really good big sister. We're excited to watch them grow up together.