Death of a Dream...

When we first met with the geneticist at Vanderbilt, he did admit that he thought Case had a form of MPS, but he wasn’t sure what type. They had to get blood and urine samples to send off for genetic testing. Genetic testing that can take months. I assured him that I knew exactly what Case had. He had Hunter Syndrome. I was sure enough that that is what we told those around us. God had made it clear to us from the beginning what we were facing.

That is not to say that we took it calmly. That we reacted with extraordinary acceptance and peace.

From Birth to Diagnosis: Video

Last year I had made a video for the school and Case's website which explained the symptoms, tests, and procedures he'd had in his first several years of life. However, this time I wanted to chronicle my memories of Case's first two years as I was experiencing them at the time - joyous, fun, crazy, stressful, but full of life. Life without the weight that MPS eventually brought. Here is my effort with several caveats:

My (un)Planned Son - Part 2

When we brought Case home, we were incredibly thankful that he seemed healthy and completely recovered from the breathing problem he had at birth. Of course, I consistently asked his pediatrician and other doctors later whether PPHN would cause any lasting complications or whether he was expected to be healthy. All healthy, they assured me. No lasting problems.

But there were always these little things.

Pardon the Interruption....

So I have to step outside of telling the story for a minute and jump into real time. Real life. As some of you know, yesterday I was enjoying the day, celebrating my brother’s birthday with him in Miami Beach. I had come to Florida to speak at an internal conference of Shire HGT, the pharmaceutical company that makes Case’s Elaprase drug, as well as the intrathecal idursulfase that he is receiving in the clinical trial. After the conference, I met up with my brother to walk around Miami Beach, talk, and just enjoy the weather and the scenery.

Chris (my husband) called at one point and started the conversation with the words, “I have bad news.”

My (un)Planned Son - Part 1

Now, this child was entirely unplanned, you see. This was a go-back-to-the-calendar, count-up-the-days, scratch-your-head, then sit-down-and-freak-out unplanned.

I’ve had to work to forgive myself for the next part.

My (under)Planned Son

So our second son was not really planned, or really, not expected to happen so soon in several ways. I mean, it takes 4 years for the first one and the second just decides that he’d really like to join the party as soon as possible. As many women know, it was quite difficult to chase after a crawling, then walking, then running child when you are sick, tired, then hugely pregnant.