August 25, 2007

boy's breath


The first and only tracheostomy I ever saw was on a medical drama TV show when I was a kid. Some poor soul was gasping for air in the wilds of nowhere. The show’s hero doctor takes a pen, cauterizes it with a flick of his lighter and stabs it into the man’s windpipe. Then he pushes a drinking straw into the hole he made and saves the guy’s life.

As life would have it, I now know a lot more about tracheostomies then I learned from that TV show.

Last month, Alex, one of my son’s friends, had the same, albeit much less dramatic, procedure performed in the sterile confines of an operating room. His breathing muscles, weakened by duchenne, were unable to keep up with his body’s demand for oxygen. A tracheostomy is one way a respirator can meet that demand.

He should be home by now.

My son, Petey, also had a tracheostomy two years ago. The operation was unremarkable, practically over before we knew it had started. The next day, Petey looked more animated than I had seen him in a long time.

We, the family, began our training in trach care, learning to clear secretions with a suction catheter and how clean is clean enough when working with an exposed airway.

In fact, once the surgeon gave the ok and the respiratory therapist approved our techniques, Petey could go home. He would learn to talk around the trach and since he would be healthier with a reliable source of oxygen, he could be weaned off his respirator for periods of time.

Expectations diverged from reality. Petey developed sepsis, an antibiotic resistant infection, and a pneumothorax. For several months he was in and out of the hospital. As one day morphed into the next I had to think that Petey’s life from here on out would be cycles of sickness culminating in emergency room visits.

But things improved. I can’t say when Petey turned the corner but he did.

As for me, somewhere in the milieu, keeping up with the new demands and my life, I got lost. I backed away from friends and disconnected from the world as much as a job and my family would allow.

The many kindnesses of friends and strangers did not make the bad stuff go away yet their care and attention were the light at the end of the tunnel. Peter, my husband, was my rock.

Now, two years later, Petey is completely recovered. He writes songs and is the lead singer of his band. Me - I am still broken around the edges.

I can work with this.

Petey’s friend, Alex, is at Georgetown Hospital struggling with complications from his surgery. He developed sepsis and is very weak. A family meeting successfully circumvented the hospital’s plans to move him to a different facility to ‘wean him from the trach.’ Since when did weaning from a trach become a euphemism for ‘our statistics matter most’? I get mad thinking that Alex’s family has to deal with bureaucracy on top of everything else.

Hopefully Alex and his family will have some measure of comfort knowing our family made it through just such a time.

lab mom
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There are good reasons to choose either invasive or noninvasive ventilation support. This is just one story. Get the facts. A good place to begin is the American Thoracic Society link below.

To download The American Thoracic Society’s Respiratory Care of the Patient with duchenne muscular dystrophy

lab word of the day from MedicineNet.com
Sepsis: Commonly called a "blood stream infection." The presence of bacteria (bacteremia) or other infectious organisms or their toxins in the blood (septicemia) or in other tissue of the body. Sepsis may be associated with clinical symptoms of systemic (bodywide) illness, such as fever, chills, malaise (generally feeling "rotten"), low blood pressure, and mental status changes. Sepsis can be a serious situation, a life threatening disease calling for urgent and comprehensive care.

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“Nothing is hopeless. We must hope for everything”, Horace, quoted by Mrs. Who in A Wrinkle in Time by Madeleine L’Engle

August 14, 2007

Terry and Raju

Let's face it; talking science can be as bland as eating oatmeal. What with discussions of methodology, procedures, and putting little drips of DNA in little tubes; well, it's naptime material. Or it can be. Or so I thought.

That was before Terry Partridge's and Raju Nagaraju's junket to Brazil last October. Perhaps the fact that the meeting happened over Halloween should have been my first clue that there was something different about it.

"So what happened in Brazil?" I asked Terry. I asked because I was looking at the picture you see with this story. Here were Terry and Raju dressed up like king-sized neon feather dusters looking ridiculously happy. Where were the nascent scientific discoveries? Where the minutia, the questioning, the scientific fog?

"I mean; who are these guys?" I said, looking from Terry to the picture and back again. "What was this workshop about anyway? Where did you go?"

Terry told me about the tour of Brazil where the picture was taken. He told me about Rio de Janerio, lovely Brazilian beaches and coastlines, castles, and the statue of Jesus floating in the clouds, his arms spread in welcome.

It was Raju who told me about the workshop and the vital force of the parents behind it. Edna Maria Pupin, a Brazilian mother of a young man with duchenne and the parent group she helped start, Fight for a Future, wanted to put duchenne research on the Brazilian map. This workshop was part of their plan.

These parents did a smart thing. They staked out one aspect of research that needed attention, translational preclinical research, and concentrated on it. FFF built a drug testing facility, outfitted it with state of the art equipment, and hired top scientists associated with a local university to run it. The translational research workshop, with international attendance, was hosted by FFF. The significance of what the parents did and the momentum they created in Brazil cannot be overstated.

Scientists can do bench work till the cows come home but, unless they have an empirical basis for human clinical trials, data that shows their research works, no one in their right mind would fund or participate in such a trial.

Translational preclinical research is the bridge that gets you from test tubes to clinical trials. In translational preclinical trials, the mdx mouse and the duchenne dog are the animal models which scientists use to determine what drugs may be safe and effective for our children.

At the October workshop at The University of Ribeiro Preto, Brazil, scientists discussed the lack of standardized drug testing in preclinical research. For example, because of the differences in procedures or methods, the same research done by different researchers can have varied results.

What became clear to Raju and other participants was the need for a standard way to test drugs.

As a follow-up to the Brazil meeting, Raju and our Center here in DC will host a conference with some of the same scientists and others in October 07. At this meeting they will draft standard testing methods and procedures that everyone will use. NIH and the Foundation to Eradicate Duchenne will fund this meeting.

The draft standards will be posted on the DC Wellstone Center and NIH web sites. Then, at the end of April 08, Lee Sweeney from the University of Pennsylvania will host yet another meeting, this one in New Orleans, where the standards will be ratified.

I want to thank Senora Pupin and the FFF for their dedication and starting the ball rolling on standards for translational preclinical drug trials. I also want to thank them for making it possible to see Raju and Terry clowning it up.

lab word of the day

Preclinical Research. Safety testing of a drug conducted in vitro (in the test tube or laboratory) and in vivo (in animals), which must occur before a drug can be tested on humans. Definition from Duke Clinical Research Institute http://www.dcri.duke.edu/patient/glossary.jsp.

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"Sometimes it actually gives them hope and hope, Chesterton said, is the power of being cheerful in circumstances we know to be desperate." Anne Lamott, Bird by Bird.

August 6, 2007

When people visit the research institute where I work, the first thing they notice is the view. The light littered atrium looks out on a wide expanse of land and water. Beyond it lies downtown Washington DC, where the Capital and Washington Monument stand out in bold relief among their lower-lying neighbors. While the view is indeed awe-inspiring, it is the science that bowls people over.

I work in the Research Center for Genetic Medicine, GenMed, the best research lab for Duchenne Muscular Dystrophy in the world. It's the best for many reasons including the people who work here: Eric Hoffman, who discovered the dystrophin protein twenty years ago, Terry Partridge, whose morpholino research is unparallelled, plus other big names in dmd research. Among us are the likes of Kanneboyina Nagaraju; Yi-Wen Chen, and Robert Leshner to name a few. Great science abounds.

I feel like a voyeur here.

Dmd reverses all the gains a child makes. Milestones like walking, standing, sitting, eye-hand coordination all go away the same way they came. We parents pray, beg, plead; please, please, not yet. Do something.

In a world where "the only constant is change", our scientists are up against a disease whose outcome - since time immemorial - has never changed. Dmd is relentless. Relentless.

Since Eric identified dystrophin, progress has had more to do with honing science than with treating disease. Technology, protocols, and equipment have all had to catch up with knowledge in order to make use of what we know. This is a simplification, of course, but in all honesty, we had to build a base for something never seen before.

My enthusiasm for our research is bested only by my insatiable desire to find a treatment - a treatment for my son. Petey is 24 years old and has dmd. I have watched his reversals of childhood gains. Like everyone else who ever had dmd, all his childhood milestones have slipped away: a wheelchair moves for him. He has to be dressed, fed, washed. He can't even pee without help.

He doesn't want pity and neither do I. He has a life but it's a different one, a harder one, from what I dreamed for him when he was born.

He's the reason I work at GenMed and the reason I'll stay here until we come up with something.

The news is this:

The base has been erected. We are ready for the something never seen before. In the next five years, some parents will have their prayers answered.

Something is about to be done.

lab word of the day

dystrophin is a gene and a protein found in muscle. When absent, duchenne muscular dystrophy results. It is thought that this causes muscle to lose it's ability to withstand the pounding caused by movement. The muscle is destroyed and replaced by fatty tissue.

"For a crowd is more than the people who make it up. Something gets added to it - no one knows how" A Room With A View by E.M. Forester