Trip to the metabolic clinic

We traveled the familiar road to the Children's Hospital again yesterday for Rylie's check-up with the genetic specialist. The BMT clinic follows Rylie's recovery from transplant, but Dr. Thomas in the metabolic clinic is the MPS I-Hurlers specialist we see. It's very helpful to have her there to follow all of Rylie's appointments and make sure we aren't overlooking anything. At the end of the visit, Janell, my friend and genetic counselor, handed me a paper full of different tests and procedures we need to continue to do for Rylie throughout the years. For example, it is recommended to do a routine MRI of the brain and spine every other year. Rylie should have a sleep study every year, along with eye and hearing evaluations. Other tests and evaluations include certain blood tests, MRI or CT scan of spleen and liver, pulmonary evaluation, cardiology evaluation, and an EKG. This is already becoming rather routine to Rylie. When she gets older we'll have to bribe her with ice cream or Disney World. (The latter is more appropriate, but the former is more realistic!)

Today we discussed Rylie's height which is less than six percentile for her age. This is down from 19 percentile last year. (By the way, Rylie is around 45 percentile for her weight.) We also discussed an upcoming blood test that Rylie will get at her next BMT appointment. The test will measure her growth hormone level to see if she is deficient. My understanding is that many kids with Hurlers (if not most kids with Hurlers?) do lack sufficient hormone levels and need to receive shots of growth hormones in order to boost growth before their stature has developed. We haven't read much about it yet, but we have heard that our BMT doctor in Minnesota has published several articles about the use of the growth hormone with post-transplant MPS kids and the results have been positive. Once again Lyle and I will be researching and learning as much as we can if Ry's test comes back positive. Of course we are praying extra hard for Rylie to grow to a normal and healthy stature, and we obviously do not want Rylie to have to get shots. Please be praying for Rylie and us as we find out more. 

Rylie's pinky and ring finger on her right hand is starting to get a little stiff. I'm very concerned about her hands, but she is still using them without any signs of numbness or pain. The doctor told us today that most kids with Hurlers do not experience major orthopedic issues (including carpel tunnel) until they are about five years post-transplant, but I know it can happen at any time. Ry will be evaluated by the orthopedic specialists at Minnesota when we visit in May, and hopefully we'll learn that Ry's stiffness is nothing. Please pray that we can avoid any surgery on Rylie's body. 

We had a PT consult last week, and she recommended special arch support inserts for Ry's shoes since she is putting most of her weight on the inside of her foot. The insert would encourage her to put her weight on the outside of her foot in order to help keep her knees from turning in. We are hopeful that this small change will be a positive thing for Rylie.

After taking thousands of photos of our baby the last couple of years, our camera decided to call it quits last week. We'll be getting a new one very soon, so stay tuned for a flood of photos and videos!

Thank you, friends and family, for all the prayers. We believe God hears and works on our behalf.