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Gene Therapy… at Last?

Laurie Kelley December 18, 2011

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!

Laurie Kelley December 12, 2011

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

Laurie Kelley December 5, 2011

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 amazon.uk in the toy department (though the puzzles are not listed on the American site of amazon.com – 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 amazon.com.uk 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

Virtual Walk for Hemophilia Raises Awareness

Laurie Kelley November 28, 2011

While I was preparing to climb Kilimanjaro in August, other people were raising funds for hemophilia in a different fashion—“virtually” walking!

Bayer HealthCare this past year supported a Virtual Walk for Hemophilia, an innovative interactive contest that raises awareness and funds for those living with a bleeding disorder. Its purpose is to raise money for NHF and chapters, get the community involved, and raise awareness about bleeding disorders. By November 6, 15,637 people – those with and without hemophilia – had signed up. Pretty impressive when you consider that the number of people with hemophilia in the US is estimated to be about 15,000-20,000!

Bayer had a special ceremony at NHF’s annual meeting in Chicago, where members of the hemophilia community commemorated the successful conclusion of the first walk. How did they do? Bayer provided $30,000 in sponsorship funds to the national office of the NHF plus an additional $30,000 in sponsorship funds to the three chapters with the greatest number of walkers, for a total of $60,000!

The chapters receiving sponsorship funds are:
First place: Arizona Hemophilia Foundation, 5,004 walkers, received $15,000.
Second place: Bleeding Disorders Alliance Illinois, 3,716 walkers, received $10,000.
Third place: Hemophilia of Indiana, 2,510 walkers, received $5,000.

“We checked the website every day to see our standing, and it really pushed our members to reach out to others directly and through social media outlets like Facebook and Twitter,” said Bob Robinson, Executive Director, Bleeding Disorders Alliance Illinois. “Most importantly, the sponsorship funds we’re receiving will go to educational and support programs for people with bleeding disorders, including summer camp for children with hemophilia, which can have a lasting impression on their lives.”

As the first walk was so successful, Bayer also kicked off year two of the Virtual Walk as a means of continued support for hemophilia communities across the U.S. and globally—and Save One Life, the nonprofit I founded! In 2012 up to $7,000 in sponsorship funds will go to Save One Life an international organization that offers people and organizations the opportunity to sponsor a child or adult with a bleeding disorder in a developing country.

(Photo: Paul Bedard, VP Bayer Healthcare, presenting check to Bob Robinson and the Bleeding Disorders Alliance Illinois)

Great Book I Just Read
Unbroken: A World War II Story of Survival, Resilience, and Redemption by Lauren Hillenbrand

This is one of the best books you will read this year. The true story of Louis Zamperini, juvenile delinquent, hyper energetic with a penchant for trouble, who is steered into track by his loving older brother and becomes a running star. By age 19 he is plucked from Torrance, California and sent to the 1936 Olympics in Munich, Germany to represent his country. He just misses winning a medal, but catches the eye of Hitler, who asks to meet him.

When he returns home Louis is drafted to serve in World War II, and becomes a bombardier on a B-24. After many victories, his plane is forced down in the Pacific, and the story takes amazing turns—you will see where Louie’s drive, discipline and energy helps to save his life and those of his mates. He survives the crash, and then survives an unbelievable 47 days at sea, fighting off sharks, dehydration and starvation. When he hits land, it’s at a Japanese prison camp in the Marshall Islands. His troubles, incredibly, are just beginning.

Louis eventually is sent to the worst of all places, first Omori and then Naoetsu, the first under the sadistic control of commandant Mutsuhiro Watanabe (the “Bird”), who takes pleasure from inflicting slow, pathological and grinding psychological and physical torture on the inmates. When the Bird learns who Louie is, the “Torrance Tornado,” he ferrets him out daily and unleashes brutal, slow, unending torment, including beatings until he is unconscious and 14-hour days hard labor on a 500-calorie a day diet. “Unbroken” refers to Louie’s tenacious mental spirit, which would not relent, submit or be defeated, despite years of torture.

Hillenbrand deftly describes the bombardment of Japan by Allied troops, until the Hiroshima and Nagasaki bombings ended the war. Louie eventually came home, healed physically but not mentally. Post-traumatic stress disorder was not even identified then, and Louie suffered terribly, and caused those around him to suffer. It was heartbreaking to know that this man survived so much, and retained his dignity, now only to lose it slowly through the psychological scars of war and torture. The most memorable part of the book has to be the end, where he finds salvation, in a most amazing, uplifting and permanent way. He is truly liberated then and only then, and healed, and becomes an instrument of inspiration in sharing his story with the world. Louis is still alive, at age 94, and still going strong, still unbroken.

Hillenbrand, author of Seabiscuit, is a technically solid writer, but shines as a master storyteller. Not much flowery prose, but this book is a gripping page-turner. I read it while cooking, walking down a flight of stairs, ironing, on my treadmill. I couldn’t put it down; it is inspirational and a testament to human spirit and resilience. I could not help but feel proud of our troops and our country, back when a war had clear-cut good guys and bad guys. Five stars.

Hemophilia in Puritan New England

Laurie Kelley November 20, 2011

It’s Thanksgiving time! And living in New England, where it all happened, I can’t help but be drawn to our deep and fascinating history. This is where the Puritans landed, where Englishman and native American lived together, where brotherhood sometimes reigned but where wars and viruses also decimated some of the tribes of Massachusetts.

It’s also the location of the original American with hemophilia (if you don’t count whichever native American may have had it first; with no records we will never know). America’s first family with hemophilia was the Appletons. I’ve written about them before here, and we printed a great article about them in PEN, back in 2002. They should never be forgotten, just as our forefathers should not be forgotten.

Arriving in New England on a sailing ship on a chilly fall day in 1639 was John Oliver (1613–1642) of Bristol, England, who had hemophilia. Like many English, he was fleeing the increasingly repressive English environment for Protestants. Indeed, between 1629 when King Charles I dissolved the Puritan-friendly Parliament, and 1640 when the English Civil War began (eventually Puritans under Oliver Cromwell behead Charles and take over), more than 20,000 English left to settle in New England, and in particular, the Massachusetts Bay colony.

John lived for only three years after arriving, fathering one child, Mary, and dying young as a consequence of his hemophilia. Not until after 1800 did the medical community begin using the term hemophilia to describe his disorder. John’s daughter, Mary Oliver (1640–1698), was likely the first hemophilia carrier of European descent born in the colonies. With her husband, Major Samuel Appleton, Jr. (1625–1696), Mary had three daughters and five sons. One of these sons, Oliver Appleton (1677–1759), was the first American colonist born with hemophilia! And they lived about 20 minutes from where I live now, and to this day, you can go to Ipswich and see the historic Appleton farms.

To read more about this story, and life with hemophilia in colonial America, November 2002 Issue Parent Empowerment Newsletter “The Appletons: America’s “First Family” With Hemophilia,” by Richard J. Atwood and Sara P. Evangelos. © 2002 LA Kelley Communications, Inc. It’s also reprinted in an earlier Blog: https://www.blog.kelleycom.com/search/label/Oliver%20Appleton

Interesting Book I Just Read
The Wordy Shipmates by Sarah Vowell

This is a great Thanksgiving read, and I chose this book knowing it was a young writer’s hip take on the founding of Boston (history near and dear to me). Not about the 1620 Pilgrims but about John Winthrop and his Puritans who arrive on the Arbella in 1630, the Massachusetts Bay colonists. The book is worth reading for the interesting take on history: you’ll learn about the religious motives that drove the Puritans, how they differed than the Pilgrims, who were Separatists, life in old Boston, the Pequot War and massacre, Anne Hutchinson, and the complex relationship between Winthrop (Massachusetts’ first governor) and Roger William (Rhode Island’s founder). All this is done with a snappy, sometimes sarcastic, crisp and witty style they should appeal to young people especially. There are no chapters in the 248 page book, making it a long read, at times a bit tedious on the eyes. I like her style when she is sticking strictly to the history, and she has mostly done her homework.

Sadly, the book has three big problems. First, she veers off into numerous tangents or gets stuck on a subject too long. Somehow Vowell will be speaking about a memorial to the indomitable Anne Hutchinson, and suddenly get on a rant about how business reply cards offer men one check box for their title (“Mrs.”) but women get three (“Mrs., Miss, Ms.”) which obviously is a judgment against women for their lifestyles—give it a rest, Sarah!

Sometimes the religious focus goes on and on, and I wondered where the book was going when suddenly, boom—we get back on track and resume the fascinating story of “olde” Boston again.

Second, her sarcasm, which works well in small doses when spicing up the history, works against her when she attempts, quite inadequately, to parallel events in the 1600s as direct forerunners to modern day politics and world events. Vowell just does not have the academic chops to make these comparisons, and the result comes across as a poorly researched analysis, bolstered mostly by sound bites and shrieking liberalism–and I am a liberal, and found it embarrassing. I felt I was reading a biased essay by a freshman in a college writing class. It was juvenile and took her away from the deep waters of the moment-to-moment events of Boston that I was enjoying, into shallow waters of her political point-of-view, where she lacks depth. She drew very poor conclusions based on hasty and questionable extrapolations.

Third, there’s just too much personal interjection in the book. It detracts from the mostly delightful text; it reflects poorly on Vowell, because she reveals her own skewed biases against any religion, and against modern day conservatives. She is an armchair atheist, proudly proclaiming that she prefers her desk and comfy room, rather than front-line experience. She reveals at somewhat awkward times in the book her own strange childhood experiences with religion. The book becomes more a revealing look at a young author who has some psychological axes to grind. It really does detract from the story.

I recommend the book, nonetheless. If you are a writer or debater this would be a great book to chew on. Vowell should be challenged on her many assumptions, particular when she tries to tie a motto on the Mass Bay Colony logo to American imperialism in WW II, Vietnam, Korea and Iraq, all in one sentence. I think Vowell has talent, but has issues to overcome. If she can get herself out of the way, I think she’d be an outstanding writer. I love the idea of making history entertaining—and by entertaining I mean exciting to read, fun to read, or even thought provoking. Vowell is not there yet, but could be someday. Read it for the history, and be sure to challenge her assumptions, connections to present-day, and opinions. Have fun with it! Boston has a fascinating history and I am glad she wrote about it. Three out of five stars.