Geneticist Appointment

Yesterday was Savannah's geneticist appointment and I am glad I slept on all the information that was given to us before blogging. The doctor gave us a possible diagnosis of Stickler syndrome. While heartbreaking to hear at first, after doing some research I realize that it is definitely not the worst diagnosis that could be given. The doctor is basing the diagnosis at this point on Savannah having Pierre Robin sequence along with facial features (widely spaced eyes) that make her look like a Stickler baby. Our next step is to have Savannah's eyes examined by an opthamologist. Stickler syndrome can affect eyes at a very early age and the exam will be key to help confirm Savannah's diagnosis. So right now we have to wait for the referral to be approved before we can make an appointment and I hope we get the appointment quickly after that.

What does Stickler syndrome affect?  Vision, hearing and joints. It affects each person differently and can vary greatly in severity. Some people show little to no symptoms all the way to possible blindness and hearing loss. I like looking at the bright side of things and the good news is that mental retardation is NOT a part of Stickler syndrome. Savannah has been meeting all of her milestones on time including recognizing us (big happy smiles!), tracking us, and reaching for her toys. I am hoping this means that her eyes are not affected or very minimally affected but we will only know for sure after her eyes are examined.

 

Savannah's kickin' coaster. As she kicks the front panel the seat slides back and forth while the front panel flashes lights and plays music. She loves it!