Workup: Day 1

Rylie had a full day. After some tears and several appointments in the morning, Rylie found a relaxing moment during the echocardiogram. Not an ideal nap spot, but it worked in a pinch.

Rylie's EKG came back normal, and her echocardiogram showed some mild thickening of her mitro valve, as well as a few spots of trace leakage. The aortic valve was normal with no leakage. Dr. Braulin, the cardiologist, noted that most people will show trace leakage as the technology with the imaging equipment continues to improve. The heart walls did show some slight thickening. The echo showed a typical progression of Hurlers, and these initial tests will serve as a base point to compare future tests. If there is a fast progression of leaking and thickening, then it becomes a concern. Otherwise, the plan is to wait and watch. From the results of the tests, the cardiologist felt like Rylie's heart is in good shape and would not hinder moving forward in considering a transplant. Dr. Braulin has worked with multiple Hurler's cases and continues to provide annual followup care. Since transplants began in 1984, there have been no post transplant heart valve issues in the Hurler's patients although Dr. Braulin did indicate that as the Hurler kids do get older she expects some patients will need valve replacements. The reason being is the tissue in the heart valves does not seem to store the enzyme even post transplant.

Next, we spent a couple of hours with Dr. Whitley, the genetics doctor. We questioned him about one of Rylie's blood tests that came back with a little enzyme present. He contributed the test results to a new substrate used by the labs and that the levels of enzyme activity scale may not be adjusted for the new substrate. He did not encourage a repeat enzyme test since our second test came back with no enzyme. After the amount of blood they took today, we aren't really ready to sign up for another poke. Dr. Whitley worked with Dr. Krivit here at U of MN for the first BMT for a Hurlers back in 1984. Dr. Whitley still sees the patient on a follow-up basis. We did get a lessen in genetics and how a gene mutation would affect the level of enzyme produced.

The final appointment of the day was a consult on the catheter that is inserted into a BMT patient's veins for administration of chemo, IV, transplant, blood draw, etc. during the transplant.

Tonight we're back at the Ronald McDonald House. We're trying to catch Rylie's pee in a bag provided by the BMT clinic for more lab work. We're supposed to deliver it in the morning. Dinner is provided by volunteers--spaghetti and meatballs. Rylie had a huge bowl of oatmeal and spinach and potatoes. I think she'll go to bed early tonight.

Tomorrow's schedule:

9:00 - Neuropsychology
1:00 - History and physical with Dr. Orchard (head of BMT)
2:30 - Audiology
3:30 - ENT


Please pray for emotional strength and physical rest. We're feeling the toll of lack of sleep and information overload. And of course, please continue to pray for Rylie's complete healing . We want to thank everyone for their fervent prayers.