Sotos Syndrome

Aubrey had her appointment today at Primary Children's Medical Center, and we were able to meet with a doctor in the neurology department who specializes is muscular disorders. And even though it didn't go as we had hoped, we still had a good experience. We are always so impressed with the doctors and nurses at PCMC. They really take the time to answer all of our questions and help us understand everything. We never feel rushed or confused. Everyone is kind and helpful, and that makes a big difference.

After examining Aubrey and asking us about a million questions the doctor said that she suspects Aubrey may have a rare genetic disorder called Sotos Syndrome. Basically Sotos Syndrome is associated with very fast growth. It would explain Aubrey's large size at birth, her chart topping measurements(especially her head), her fast teeth growth, low muscle tone, and all her developmental delays. You can learn more about it here.

Like I said, we don't know for sure yet if this is exactly what we're dealing with. Aubrey did get a bone age test done today and we'll get the results of that back in a couple of days. But the real answers will come with genetic testing...and that may take a while because most insurance companies don't cover genetic testing, and it's quite expensive. The people at Primary's are working on finding out what they can get our insurance company to cover, and then we'll move forward from there.

One thing we do know for sure, is something we already knew. It's going to be a long road and a lot of work to get Bree up to speed. They told us to get her started with speech therapy right away, and to of course keep doing regular physical therapy. We're also going to start working with an occupational therapist soon, so we're gonna be busy!

These visits to PCMC are always hard for us. Aubrey has been making some awesome progress lately, and we've had so much to celebrate and rejoice in. These visits certainly have a way of bringing us down to earth and forcing us to understand the reality of our situation, and take a long hard look at what the future holds. And while we know the future holds a lot of smiles, and happy times, we're also keenly aware of all the challenges that lie ahead for Aubrey and our family.

The thing we are hoping and praying for the most right now is that our insurance company will come through for the genetic testing. It would be great to finally get some answers, and know for sure what we're dealing with.

Thanks to everyone for your thoughts and prayers!