Bush signs GINA

On Wednesday President Bush signed the Genetic Information Nondiscrimination Act of 2008 into law. The president's critics and detractors are numerous and varied, but here is something where we can stand together on the same side and approve of this landmark legislation.

*UPDATE*

From NHF:

On Wednesday, May 21, 2008, President Bush signed historic legislation protecting Americans from discrimination based on the results of genetic testing. The bill was recently passed by Congress with strong bipartisan support after a 14-year struggle and dedicated efforts by a coalition of healthcare and other advocacy organizations, including the National Hemophilia Foundation.

"This is a tremendous victory for the hundreds of thousands of Americans affected by genetic disorders," said Val Bias, CEO, National Hemophilia Foundation. "It was a long and hard effort to achieve this day".

The new law prevents employers and insurance companies from either requiring genetic test results or from using genetic information as the basis for decisions around employment or insurance coverage. In the bleeding disorders community, the law has particular significance for women who are considering genetic testing to determine whether they are carriers. In the past, some individuals have avoided such tests out of fear of possible discrimination. The law does not affect those who have been diagnosed with specific conditions.

Factor, prophylaxis and…complacency

For parents of boys with hemophilia anti-hemophilic factor products are heaven-sent. Combined with a prophylactic regimen the results are amazing. Although bleeding activity and severity can vary widely we have found that with prophylaxis Jack has few, if any, breakthrough bleeds and the restriction on his activities (within reason) are next to nothing. And this is wonderful. I’m sure there are untold numbers of people who see this active, go-for-it boy who would be shocked to learn he has a genetic condition that in the not too distant past would have likely resulted in debilitating joint damage or, even worse, an increased risk of death.

Jack has been on prophylaxis for nearly five years now, following a year of immune tolerance to defeat inhibitors. In that time we’ve transitioned from a port to peripheral sticks and with each step and a greater awareness (both Jack’s and ours) of recognizing and treating bleeds the results have been liberating.

But there’s a flip side. At times we can be lulled into complacency. A missed infusion here, a missed infusion there and nothing goes wrong. No harm, no foul; right? Busy schedules, few bleeds and we think we can skip a day and get back on schedule tomorrow. But it doesn’t always work out so well.

We were caught missing an infusion last week. At a time when we should have been hyper-vigilant we let our guard down. Our normal prophylaxis is M-W-F but sometimes we will purposefully alter the schedule to match up with games, events or activities to ensure that Jack has factor on board.

Now, Jack is finishing baseball and starting swim team practices. So last week he had swim practice on Wednesday, a baseball game Thursday, swim again Friday and baseball again (playoffs) Saturday. He had his normal infusion Wednesday morning but we missed his Friday infusion. On top of all this activity Jack planned to spend the night Friday at a friend’s house. So of course we got a call around 10:00 pm from Jack saying his leg was hurting and it was painful to walk. After all his activities it's no wonder. I collected him within 5 minuets, came home and Allison infused and Jack was off to bed. We suspect it was a soft-tissue bleed about mid-thigh. The next morning Jack couldn’t walk from the bedroom to the couch. He had a 9:00 am game so we infused again about 8:00 am. I dreaded the phone call to his coach.

I told Jack that if he couldn’t play he would still put on his uniform and go cheer his teammates. He said he wanted to give it a go, so we wrapped his thigh in an ace bandage and went to the ball field. I’m not sure the ace bandage really did anything save boost his confidence, but by the time we got to the field he could walk fine and after warming up he was jogging and running without pain.

He played and played well helping his team win. I’m proud of him for calling us when his leg was hurting and getting out and trying when he was unsure if his leg would hurt. He handled the situation like a pro. It was his parents who dropped the ball, letting distractions get in the way of the proper infusion schedule.

Of course we use this as a ‘teachable moment,’ using our mistake to show how important it is to take care of yourself and follow the proper schedule so as to avoid injuries like this.

Undoubtedly this won’t be the last missed infusion (try as we might, it’ll happen again) but it goes to illustrate that all the factor products in the world do you no good if not used effectively and how easily we can be lulled into a false sense of security when what is really required is constant vigilance.

Hooray for the Home Team

A group of researchers at The University of Texas Health Science Center at Houston have developed a modified Factor VIII protein that will help treat inhibitor patients.

From the press release:

With a shortage of the blood-clotting protein Factor VIII (FVIII), people with Hemophilia A typically receive injections of FVIII derived from plasma or produced synthetically to control potentially life-threatening episodes of bleeding. Unfortunately as many as 1 in 3 people with Hemophilia A produce inhibitor antibodies, which attack the externally-administered FVIII and negate its blood-clotting benefits.

To combat this problem, scientists in the laboratory of Sudhir Paul, Ph.D., at The University of Texas Medical School at Houston, developed a chemically modified version of FVIII which during laboratory tests neutralized these inhibitor antibodies, thus paving the way for the correction of the blood-coagulating process. The modification is called electrophilic FVIII analog (E-FVIII).

“It’s a two-step process,’’ said Paul, the senior author. “The E-FVIII permanently inactivates the antibodies that inhibit blood clotting in 20 to 30 percent of patients receiving Factor VIII replacement therapy. Once the antibodies are cleared, additional FVIII can be injected.” The study involved blood donated by eight people with FVIII-resistant Hemophilia A.

Miguel Escobar, M.D., of the department of pediatrics and internal medicine at the UT Medical School at Houston and the Gulf States Hemophilia and Thrombophilia Center, led the clinical aspects of the work.(emphasis mine)

This is great news from just around the corner. Congratulations to Dr. Escobar and the rest of our HTC team. We are so very fortunate that Houston has one of the premier Medical Centers in the nation, if not the world. We are doubly blessed for Jack to be under the care of Dr. Keith Hoots and the whole Gulf States HTC staff (the finest in the nation, and yes we’re biased).

Project DOCC

I helped out with Project DOCC on Friday. What’s Project DOCC? Well, from the Houston Project DOCC website:

Project DOCC, a groundbreaking national program for pediatric physicians-in-training, has a simple goal:

To improve each patient's quality of life by teaching physicians-in training the effect of chronic illness on patients and their families.

Created in 1994 by three parents, Project DOCC's philosophy is that, by understanding how families deal with illness and or disabilities out side the hospital setting, pediatric physicians-in-training become better and more compassionate physicians.

Project DOCC's teacher - parents and guardians of children with special medical needs - provide physicians with a unique perspective on culturally effective, family-centered care.Project DOCC Houston is a non-profit organization that is a collaboration of Houston-area families of children with special health care needs, Baylor College of Medicine's Department of Pediatrics and Texas Children's Hospital. Project DOCC Houston is mandatory for first year pediatric physicians-in-training as one of the teaching modules of Pediatrics 101.

The Project DOCC program is made up of three components; the home visit, the parent interview and the Grand Rounds panel presentation.

Both Allison and I have participated in the home visit portion (check out here for more on the parent interview and Grand Rounds). During the home visit the resident(s) come to the home of a special needs child to get a feel for a day-in-the-life of that family. We go over medications and dietary issues and storage issues for supplies. We get into insurance and Medicaid, home modifications for handicap access, marital and financial stresses and so much more. There’s also a ‘visiting parent’ who interjects their own experiences as well as providing a more global perspective of the challenges of caring for a special-needs child.

I take special satisfaction from being able to tell our story and educate another doctor about hemophilia and challenges that come with it.

So on Friday I was the ‘visiting parent’ and we had a very interested and observant resident. I’ve done home visits where we’ve had two or three residents and, honestly, having the undivided attention of just one is so much better. With three residents or even just two one can shrink back and not engage, letting another resident take the lead.

All in all it was a good visit and hopefully enlightening and productive for the resident.

Check out to see if Project DOCC is in your area and how you can get involved.