The First

Everyone,

Here's an e-mail I wrote a few weeks ago after we found out Rylie's screening for MPS came back positive.

Hi everyone,

As some of you know, Rylie's test for mucopolysaccharidoses (MPS) came back positive. The doctors believe it is Hurler syndrome, which is classified as MPS 1 (see http://www.mpssociety.org/ or http://www.mps1disease.com/). From one of our flyers:

MPS is a genetic lysosomal storage disorder caused by the body's inability to produce certain enzymes. Normally, the body uses enzymes to break down and recycle dead cells. In affected individuals, the missing or insufficient enzyme prevents the normal breakdown and recycling of cells resulting in the storage of these deposits in virtually every cell of the body. As a result of the storage, cells do not perform properly and may cause progressive damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system. While the disease may not be apparent at birth, signs and symptoms develop with age as more cells become damaged by the accumulation of the deposits.

Since Rylie is already showing signs of MPS, the doctors feel like there is considerable progression of the disorder. We've been given a couple of treatment options, but they aren't great. One of the treatments would be enzyme replacement therapy (ERT). This would consist of weekly injections of synthetic enzymes for the rest of Rylie's life. This therapy would not slow the progression of the affect on the brain and mental abilities, eyes, or the bones and joints, but they believe it would help in other major organs. (ERT has only been around since 2004, so the exact expectation is not determined.) The other option could be a bone marrow transplant. It is very dangerous, but the outcome is more positive (especially for the brain development) if the patient survives the transplant. It still would not solve all of the issues that come with MPS, but the chance of a normal life (whatever that is ) would be greater. If we decide this treatment, we'll need to do it within the next couple of months--or at least w/in the year. They do not offer this treatment once a child is 2 years old. Lyle and I can barely imagine signing up Rylie, who seems fairly normal and healthy, for a BMT. Seems absolutely absurd. On the other hand, imagining raising a child without normal brain development and other health challenges is hard, especially since life expectancy is short.

Lyle and I are doing better than we would have expected. I think we're still shocked and not completely believing this is happening. I just keep thinking that maybe there's a mistake. Yesterday Rylie had a few more blood tests, and I hope those come back with some hope for a different diagnosis. The doctors don't leave us that hope, but I just can't help but believe that Rylie is fine with only a few health concerns. We just keep praying for help and healing.

On a more happy note, Rylie is sleeping through the night---much to our delight! I'm almost afraid to tell people in fear of jinxing it.

Thanks to everyone for their love and support and care for Rylie. No matter what happens, we think she is a very special little lady!

Love to you all,
Lyle & Jade