Reality check-up

Several years ago, Lara sought out and reached out to the authority on brain malformations like Daniel's. In exchange for our token contribution to his research funding, Dr. William Dobyns reviewed Daniel's brain imaging back then and provided us with a diagnosis: cerebellar vermis hypoplasia. At the time, Dobyns was practicing and researching in Chicago. Today, Dobyns is in Seattle, and so are we. And this week, Dobyns and his team met Daniel face-to-face.

The hard facts:

• Daniel will almost certainly never walk independently. At nearly 7 years old, Daniel's trunk will not develop any further. No amount of physical therapy will alter this outlook, but we will continue to work with a physical therapist to get Daniel more comfortable with his walker.
• Daniel will almost certainly not be able to live independently when he is an adult. For example, it is likely that he will never be able to have a job. Through continued physical and occupational therapy, we strive for whatever level of self-sufficiency seems realistic.
• There will come a time when Lara and I are not able to take care of Daniel. A group home will likely be in his future. We are not currently financially prepared for such events but are hopeful that we still have sufficient time to begin appropriate planning.

What's good:

• Daniel social and language skills are still developing, and we are hopeful that continued speech therapy and special education will only bolster this progress.
• Genetic research is growing by leaps and bounds every year. Dobyns now has Daniel's DNA sample, which could be made available for any possible clinical trial that may emerge.
• Lara and I also both provided DNA samples (spit) to determine any genetic causes. This analysis won't help Daniel, but it could be useful for Alison to know down the road.

Ten Fingers, Ten Toes and it's off to the Neurologist we go...

One of the many reasons we made the difficult decision to move all the way across the country was that we knew that a certain neurologist worked at Seattle Children's Hospital. This neurologist is the only neurologist in the country (world maybe?) who is studying the role of genetics in brain abnormalities like the one that Daniel has. In fact, this neurologist is the one that (after having a bad experience with the neurologist at UVA) first diagnosed Daniel with Cerebral Vermis Hypoplasia (CVH). All he did was look at Daniel's MRI.

At the time he was working in Chicago and we just figured we would never meet him in person. We were wrong--never say never. In less than two weeks we will finally go see him!

I am not sure why I am so nervous, hopeful, excited about seeing this particular neurologist. In general, a neurologist is not the one who helps Daniel every day of his life. In fact, not since his first year have we dealt with a neurologist of any kind, knowing that Daniel will only improve with the physical therapy, occupational therapy, speech therapy and special education teachers. A neurologist knows what is happening in the brain, but cannot perform the tasks of helping the brain to grow. And yet knowing all of this I still have hope and faith in the neurologist and hope that he will give us more than we've ever gotten from a neurologist before.

Because he is the man. He is the one who is leading the research on what Daniel has. He is the one who may someday (in the near future?) have the answers that we all long to have. The reasons why and the ways to make it better.

Am I putting too much faith in this one guy? Sure. Do I have every right to want this person to be a miracle worker? You bet!

The other night in the bed, Daniel and I were hanging out. He is very much into counting to ten these days and very proud of himself when he does, "Great job!" He won't actually count things though, he just counts. I was trying to get him to count his toes and it reminded me of when he was born. Just like when his sister was born, I counted to make sure he had all ten fingers and all ten toes. Thinking that as long as he did, then everything was okay. Yeah, life is not that simple.