On June 25, 2008, our lives changed.

I wasn't expecting the news that day. I had called genetics about some billing questions that I had, so when the genetic counselor called back I wasn't too concerned. Until she started talking about how we could bill Nick's and my bloodwork under Blake's diagnosis.

I had been waiting for someone to call me with results of the confirmation test we had done exactly 3 weeks earlier, but so far nobody had. Instantly I got a sinking feeling in my stomach. "Wait," I said. "So you got the results? This is what he has?" After a second of hesitation she said yes.

To be perfectly honest I don't remember much of what was said after that. We talked about testing Nick and me, we talked about things we'll need to test Blake for, we talked about a couple of studies we could participate in. At first I felt like I had been punched in the stomach. Then I started to cry, then I felt sick. The reality of how this could affect his life hit me like a ton of bricks. I started to go over the statistics in my head: 50% of people with PTLS have heart defects; most young adults have some degree of mental impairment; many have autism or display autistic behaviors.

The thought that something could be wrong with his heart was absolutely devastating. The fear of losing him is undescribable. How could this happy, healthy little boy who walks around the house playing and babbling all day have something wrong with his heart? Nick was very quiet and I think in denial at first. He didn't believe that such a strong, healthy boy could possibly be sick.

The next couple hours or so were a mix of shock and grief. I went to work that night in a fog. It's a good thing it wasn't very busy or I don't think I would have been able to function. I asked Nick to keep Blake up til I got home; I just wanted to hold him before he went to bed.

Looking back now, he had most of the classic symptoms. Low muscle tone, borderline failure to thrive, delayed gross and fine motor skills, difficulty swallowing, and now that he is older, speech delay. We don't see any signs of autism, but will have him assesed as part of his workup. Our main concerns right now are his heart and his kidneys. I called his doctor and asked that he be scheduled for an echocardiogram, EKG and renal ultrasound as soon as possible. If those come back ok then we can start thinking about other things.

There is a research study at Texas Childen's Hospital in Houston that we might participate in. In addition to helping researchers understand more about PTLS, we would have all the necessary testing over with in a week instead of dragging it out for months. Then we could start focusing on the future.

I feel much better then I did a few days ago. It is a relief for me to know without a doubt that we have finally found the answer we have been looking for. There will be no more wondering, no more specialists we don't need to see, no more pokes that Blake doesn't need. No more wasted time or energy. We now know what to watch for and that gives us the advantage. Knowing can only help Blake.

I have told myself from the beginning that it could be much, much worse. Blakie is happy and healthy. We are so lucky to have this diagnosis. We are so lucky to have Blakie.

I thought a diagnosis would be the end of this journey. Now I realize it is just the beginning.