December 2011

Merry Christmas! (disease)

I wish everyone a Merry Christmas and joyous new year.

Christmas reminds me that factor IX deficiency is also known as “Christmas disease.” Did you know that the name has nothing to do with the holiday?

The name comes from the first person properly diagnosed with factor IX deficiency, a Mr. Stephen Christmas, born a British citizen in 1947, who emigrated with his family to Canada. He was diagnosed at age 2 with hemophilia (no type yet). On a return visit to England in 1952 Stephen was diagnosed by the Oxford Haemophilia Centre as not having a normal case of hemophilia. Research led to a new classification, called factor IX due to the low levels or absence of factor IX protein in the blood. This eventually led to many others being properly diagnosed. Although Stephen later contracted HIV, he became an advocate for the screening of donated blood to increase the safety of transfusions and infusions.

And he went down in history: the new disorder was named after him!

Interesting Book I Just Read
I, Steve: Steve Jobs in His Own Words
George Beahm

I was too intimidated at first to read the new Steve Jobs book by Walter Issacson, so I settled for a short and sweet book. Well, it’s short! It is a collection of quotations by Steve Jobs, about business and life. It’s nice in that it’s a quick read, and you can go back and browse through it. Many of the quotations seem to be space fillers, and trite, shedding no light on Jobs or on anything! But some of it is good. I suspect you could get a lot of this on line, and save a few bucks.

Also, I finally finished Steve Jobs, which I will write about next week, and it makes I, Steve present Jobs as a savvy and wise man, sugar-coated all the way. To know the real Steve Jobs, read the Issacson book. For snippets, this is fine. Two stars/five.

Gene Therapy… at Last?

I spent part of last week in Europe with members from our global hemophilia community, and before our meetings, the talk was about the news release concerning gene therapy for hemophilia.

Remember that?

We all want to roll our eyes when we hear talk about gene therapy. Those of us old enough to remember heard that gene therapy was right around the corner back in the 1990s. There were a lot of clinical studies and experiments happening, and it did seem feasible. In fact, PEN (my newsletter) included the first article on the world’s first gene therapy trial, by TKT right here in Cambridge, Massachusetts.

Then in 1999, Jesse Gelsinger, an 18 year old, died in a clinical trial for gene therapy. It wasn’t for hemophilia, but it sent shock waves to all gene therapy trials. Fearing lawsuits and other deaths, many shut down. And gene therapy has gone sort of underground since.

So it takes guts to come out and declare that a single treatment with gene therapy has been shown to raise factor IX levels blood clotting factor. But it’s been declared in the prestigious New England Journal of Medicine, and reported at the American Society of Hematology in San Diego last week.

The study is taking place at the University College London Cancer Institute and St. Jude Children’s Research Hospital in Memphis, Tennessee. How does it work? It uses a viral “vector,” designed to target the liver specifically. The human gene that makes factor IX is inserted into a virus (viruses are very, very good at reproducing quickly in the body, as we all know). The viral vector containing the human gene is delivered to the patient’s liver cells. These are the cells capable of producing clotting factors.

The results have been promising. It’s reported that four of the six trial participants have stopped routine treatment and remain free of spontaneous bleeding. The other two infused once every 10 days to two weeks, and now from two to three times a month!

Right now researchers must look for any side effects: we are dealing with a virus, after all. And indeed, one high-dose patient developed elevated levels of “transaminases,” which could indicate possible liver damage.

Researchers plan to enroll more patients and see where this goes. While nothing is certain yet, this looks promising and has the whole community watching.

Great Book I Just Read
Ethan Frome by Edith Wharton

Nature abounds in this book, and as a backdrop, Wharton uses its lighting, temperature, seasons and harsh beauty to mirror the events in the lives of a few humans in an 1800s Massachusetts town. This is the portrait of a man in constant emotional pain. Ethan is baffled by his life’s path, doesn’t know how to improve his life, and plods through his daily chores waiting for something, eventually torn by desire and duty. Ethan seems resigned to eke out a living on a failing farm, with his hypochondriac wife Zeena. For the past year, hope blossoms like spring in the form of Zeena’s younger cousin Mattie, sent to aid the ever-ill Zeena. Her sparkling demeanor and warmth contrast starkly to Zeena’s self-absorbed and cold manner. Ethan finds himself slowly captivated by Mattie, in ways he does not quite fathom, adeptly documented by Wharton, and then falls totally and irrationally in love. With Zeena’s constant interference, and manipulative presence, it’s a doomed love. Eventually, pressure builds: Zeena’s imagined health concerns worsen as she suspects the growing bond between her cousin and husband. Mattie is forced to leave, and Ethan feels life, love and meaning slipping away. The story is simple yet extremely sophisticated psychologically, the characters powerful. This quick read is a complex and deft weaving of personalities, hopes, dreams, longing, regret and circumstances that eventually force a decision—though the ending is shocking, almost gothic. And the pervading sense of nature helps to create a foreboding and destiny, all too terrible to conceive. Five stars.

PS: Edith Wharton was the first woman to win the Pulitzer Prize for literature. And the movie, starring Liam Neeson, is excellent.

Pulse on the Road: A day at the beach!

Myrtle Beach, that is, location of the final Pulse on the Road for 2011. I traveled to South Carolina to Hemophilia of South Carolina’s annual meeting and to present POTR, an interactive health insurance symposium sponsored by Baxter Healthcare Corporation.

What a wonderful hemophilia organization! No surprise there—almost as soon as you land in South Carolina, you feel a difference. A genuine warmth and friendliness, with southern hospitality, that you just don’t get in many northern states. South Carolinians really know how to make you feel at home.

And what a rapt audience. We presented from 9 am until noon, a long time to discuss health insurance, but the families were attentive, engaged and asked many questions. After a warm introduction from the elegant Ms. Vidalia McTeer, I launched into the history of the hemophilia community as relates to health insurance, especially why the Golden Age of having whatever you want—product choice, access to many providers, and limited interference from payers— is coming to a close. Some points were new to this community, such as the rise of PBMs—an important player, with the current attempt by Express Scripts to buy Accredo.

Next, Marvin Poole, senior manager of Reimbursement and State Advocacy, Baxter Healthcare, gave a review of common and important health insurance terms, such as “grandfathered” and “donut-hole.” These are must-knows now that healthcare reform is upon us.

Ruthlyn Noel, manager of Public Policy, National Hemophilia Foundation (NHF), gave the results of a joint survey by NHF and HFA, to assess what consumers know about health insurance and healthcare reform. The results overall are encouraging!

Then, Kelly Fitzgerald, associate director of Government Relations, Patient Services, Inc. (PSI, gave the keynote speech on healthcare reform—the Affordable Care Act (ACA). The big year is 2014, folks—know what’s happening then!

We spiced up the talk by offering a quiz at the end of each lecture, and offering $20 to whoever gave the right answer! And why not? This is all about teaching the community how to safeguard our precious dollars, our disposable income.

Three breakout sessions allowed families to sit in more intimate setting and learn more about Medicaid, Advocacy and Out of Pocket Costs. Jennifer Meldau, RN and Nurse Coordinator at Palmetto Health, the SC hemophilia treatment center, joined us to help give the audience more specific information about South Carolina Medicaid.

Finally, we all reconvened for the Community Forum, a Q&A. Questions focused on genetic transmission of blood disorders, Tricare, advice on young adults exiting their parents’ insurance, and the likelihood of ACA being repealed by the Supreme Court. Fantastic questions from a fantastic audience.

I was very fortunate to sit with a few families individually and hear about their struggles, challenges and even triumphs. James, Susie, Sandy, April… all unique but with a common theme of bleeding disorders. There’s only one HTC in South Carolina, so many parents use local healthcare services if it’s not a life threatening bleed. But most doctors don’t know much about hemophilia—parents can actually know more than the doctor about treatment! Many South Carolina families have learned on the spot, in the midst of a crisis, how to find their voice and speak up. I was really proud to hear so many stories of these true advocates.

The most amazing thing about South Carolina is that the chapter has been run for 40 years by Roberta and Vic Fisher, a dynamic duo, and is all volunteer! Kudos to Sue Martin and the Fishers, and their team for organizing one of their biggest annual meetings. I miss South Carolina already and look forward to returning again. I hope though not for insurance reform education—wishful thinking that our government will have a breakthrough.

(Photos: Kay Scott)

Great Book I Just Read
The Water is Wide by Pat Conroy

Conroy is one of my favorite writers. In this, his first book, he provides a memoir of his first year out of college in the late 1960s, teaching mostly illiterate black children on neglected Daufuskie Island (which he calls Wamacraw), off the coast of South Carolina. Idealistic, young, confident and white, he soon learns his students are mostly illiterate, don’t know what country they live in, who the president is or even how to write. Shocked, he throws himself into the job with gusto and humor, winning his suspicious students over. His writing is superb, and the story is captivating, funny, sad and marvelous. When he learns the kids have never been off the island, or celebrated Halloween, he orchestrates a wonderful sleepover on the mainland and a Halloween outing. He refuses to use the switch on the children, and encourages them to speak up and speak out. His unorthodox techniques and agenda get him reprimands, negative attention and roadblocks from the school system, where he sees territorialism, jealousy and hypocrisy. The children are caught between a culture of dependency, fear and submissiveness from their depressed surroundings and often alcoholic or abusive parents, and a school board more interested in keeping them repressed and isolated. Conroy stands out as their champion; he leaves his mark on these impoverished children, while also growing up himself, and learning the ways of their unique island culture, and an indifferent outside world. Five stars

Bloody Good Gift

I got a big laugh out of an email from friend, colleague and fellow-writer Richard Atwood, former president of the Hemophilia Foundation of North Carolina. He has a helpful suggestion for holiday gifts.

“If you are still searching for the right holiday gift, then let me suggest a jigsaw puzzle of either an MRI, x-ray, or artwork in full color of an osteoarthritic knee or knee joint replacement. There are 19 puzzles of knees, each with 300 pieces available for just under 18 British pounds, as listed in the United Kingdom site of in the toy department (though the puzzles are not listed on the American site of – just search using ‘jigsaw osteoarthritic knee’).

“While you may consider these jigsaw puzzles to be a bit pricey, compare them to the actual cost of a real MRI to enjoy the savings. So when the outside temperature falls and your joints stiffen up, then just settle down in a warm room to put together a picture of your pain, piece by piece.”

So I went to and he was right! And, they make superb gifts, according to Amazon. Yes, nothing says “Merry Christmas!” quite like a jigsaw puzzle of the knee joint.

I got curious and poked around, and guess what? They actually have jigsaw puzzles of blood clots! I am not making this up. Only $28. And… you guess it. They also make superb gifts!

Not only that but you can even get a jigsaw of blood samples, for that true lab enthusiast. The possibilities for biological recreational activities seem endless. The British really know how to have a good time.

Happy shopping!

Good Book I Just Read

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