Baseball - Jack legging a triple

Jack had a game last night and I remembered to bring the camera (and actually use it!).

Here's Jack hitting a legitimate double and taking third on the throwing error. But hey it's seven and eight-year-old machine pitch, so that's a triple. Jack has severe hemophilia A but that hasn't stopped him from enjoying his natural athletic ability. Ain't factor great!

With two games left in the season, Jack's team is 8-3-1 and in second place.

Genetics and Hemophilia

Congress Sends Bush Anti-Genetic Discrimination Bill - Fox News

Redefining disease, genes and all - Andrew Pollack, International Herald Tribune


Medical science is constantly progressing, stretching the current limits and breaking new ground about what is known about the human body, its genetic makeup and what causes diseases.

The Pollack article is a fascinating glimpse into how advances in the human genome are changing how diseases are classified.

“The research is already starting to change nosology, as the field of disease classification is known. Seemingly dissimilar diseases are being lumped together. What were thought to be single diseases are being split into separate ailments. Just as they once mapped the human genome, scientists are trying to map the "diseasome," the collection of all diseases and the genes associated with them.”

Hemophilia has always been the classic case study of genetic mutations and has benefited from advances in genetic knowledge.

“Some of the earliest work has until now been with inherited diseases caused by mutations in a single gene. Diseases have been subdivided by the type of mutation. Hemophilia was divided into hemophilia A and B, caused by mutations in different genes for different clotting factors. And what was once considered a mild form of hemophilia was later identified as a variant of a different clotting disorder, von Willebrand disease, caused by mutations in a different gene and requiring a different clotting factor as treatment.”

So it is in this light that the Genetic Information Nondiscrimination Act carries even greater importance.

I’m not usually one for expansion of governmental power or governmental intrusion of this type but this is a good thing. I‘m not alone in this opinion. Separate versions of the bill passed the House 414-1 and the Senate 95-0 (Ron Paul the lone dissenter) and President Bush is expected to sign the final version.

It’s important not only for those with a genetic disorder but for those who’s only knock is they show a higher pre-disposition to more common ailments.

Ensuring genetic non-discrimination goes far to alleviating some insurance coverage and medical care concerns for our kids with bleeding disorders.

New VIIa product set for 2009 human clinical studies.

Catalyst Biosciences, Inc. announced it intends to file an Investigational New Drug application and commence human clinical studies in 2009 for its new factor VIIa variant. Catalyst says CB 813 is, “…an improved, second-generation variant of human coagulation factor VIIa…for the treatment of acute bleeding in hemophilia patients.”

From the company’s press release:

“CB 813 is designed to substantially enhance clot-generating activity at the site of bleeding and therefore achieve clinical efficacy with fewer and lower doses than current therapy. In established hemophilia models of acute bleeding, CB 813 has demonstrated a significant improvement in potency compared with the marketed recombinant factor VIIa product, NovoSeven(R) and a competing, second-generation product, NN1731.”

Eventually one of these potential improvements will be realized and raise the bar for the rest of the industry. Here's hoping it's sooner than later.

Hemophilia fact-checking

I saw this article a couple of days ago. It’s about a laid-off employee of Aloha Airlines with hemophilia and his struggles to maintain health insurance coverage. What caught my eye was a glaring mis-statement about hemophilia.

Chun has hemophilia; a bleeding disorder that means his blood does not clot. So he could bleed to death from even the smallest cut. (emphasis mine)

No, he couldn’t bleed to death from the smallest cut.

Part of any advocacy work is providing education about the particular issue of interest. It’s frustrating that loads and loads of work that goes into educating the public about hemophilia can be nullified by one sentence in one article where the research and fact-checking wasn’t done.

Because the bleeding disorders community is (thankfully) small getting free publicity in the form of news articles is extremely valuable. But misinformation like this does nothing to serve our greater goals.