I attended the excellent annual meeting of the Arizona Hemophilia Association this weekend, invited by Cindy Komar, executive director and mother of a child with hemophilia. (Cindy is an awesome exec director and lady, if you haven’t met her!) It was great to catch up with so many Arizona families I know.
I did the keynote presentation yesterday but I myself didn’t find that half as interesting as a fascinating new program for families with hemophilia: called “My Life, Our Future.” The name is a bit nebulous, but the program is important. NHF has teamed with Biogen Idec, Puget Blood Center and ATHN to create the first genotyping of families and patients with hemophilia in the US. John Indence, from NHF, and Jennifer Dumont, director of scientific affairs from Biogen Idec Hemophilia, presented.
John summed if up first: this is NHF’s most important project. One blood sample per patient will reveal vital information on the patient’s specific hemophilia type, propensity to develop inhibitors, and more. A short movie featured NHF CEO Val Bias, who stated that this will help families understand their personal genetic profile, and also help researchers learn more about the genetics of hemophilia, as the data will be pooled. Best of all, the testing will be offered at no or low cost.
John explained how ATHN currently holds the most information/data on hemophilia patients in the country. Information is supplied from HTCs, who obtain patient consent; privacy of course is key, and ATHN assures complete privacy. And Puget Sound is one of the top HTCs in the country, and one of the top genotyping centers.
Laurie with Rachel Stuart, RN
John noted that everyone in Spain and Ireland has been genotyped, and it’s time for the US too. As early as 1998, MASAC (NHF’s Medical and Scientific Committee) advocated for genotyping. IN 2008, the initiative got a boost when the Genetic Information Nondiscrimination Act (GINA) was passed, making it more reassuring for patients to share their personal health information.
In 2002, the human genome was sequenced at a cost of $3 billion; now, genotyping is much cheaper and the price per family keeps dropping. Genotyping helps uncover the causes of disorders, like hemophilia. It requires an analysis of the population, not just the individual, and the purpose of testing the individual is to aggregate the data to study the entire population. So, this new program requires the data of thousands of participants!
Jennifer Dumont then spoke and gave an excellent description of how genotyping works. She noted that 99.9% of our genetic makeup is the same! It’s the 0.1% that makes us all different. A genotype is “a description of the gene mutation that is caused by a certain condition or disorder.” A mutation is a change in the DNA sequence of a gene. It can happen in different ways: nucleic acids can be inserted, deleted or substituted in DNA, leading to a misreading of information in directing cells how to function.
There are diseases where one mutation leads to one disease, such as sickle cell anemia. Hemophilia is different: there are many possible mutations, such as missense, nonsense, frame shift, deletion and insertion. For factor VIII and hemophilia A, there are 2,513 currently identified mutations; for factor IX, there are 1,094 currently identified mutations.
Jennifer illustrated what each mutation might be like if we used a sentence as a DNA sequence (three-letter words are similar to the DNA sequence of three-letter codes): “The One Big Fly Had One Red Eye.” Each mutation makes the sentence read strangely! The body can’t figure out how to produce factor properly when the instructions are so scrambled.
After the presentation, some great questions were asked, such as will Spanish-speaking services be included in the program to help Latino families? Answer: not at the present but this is something that NHF is keenly aware of.
Another question: If HCPs (Heath Care Providers) know the risks of inhibitors from the genotyping, what can be done to prevent them form happening? Will it affect choice of product or treatment? Jennifer replied that it shouldn’t affect choice of product since there is no difference in the incidence of inhibitor development with different products, but physicians may closely monitor people in the first several exposure days to factor and possibly change how they dose if there is a known risk of inhibitors.
With the BioRX ladies!
Deena Lapinski and Laurie Kelley
John also mentioned that if you’ve been genotyped before outside this program, you’d need to be genotyped again. And someday NHF hopes to open the program to those with VWD and other bleeding disorders.
The presentation was well done and gave rise to much discussion. The bottom line: to support NHF’s research efforts on the causes of hemophilia and its functioning, something that may help future children by our research now, ask your HTC how to participate in the genotyping program “My Life, Our Future.”
Great Book I Just Read
Gifts from Eykis by Wayne Dyer
In this fictional tale, the narrator somehow visits an identical civilization to Earth’s, in every way, though he is on Uranus. But he learns that the thought processes and psychological lifestyles of these people are strangely different. They experience positive human emotions naturally. They experience negative human emotions only through machines designed to elicit them (very creatively told!). On Earth, we create negative emotions when they don’t really exist, or don’t need to exist, because there is no external “machine” that prompts them. Jealousy on Uranus is caused artificially. The parable is that we create our own misery and can just as easily rid ourselves of it through free choice. Eykis, a beautiful Uranian inhabitant, comes to Earth to observe and then leave us her gifts of observation, in how we can take advantage of our freedom not to engage in negative thinking, such as anger, anxiety, fear, jealousy, and above all, blame. Everyone is responsible for their own emotions. Great story, simply told, easy read, powerful message. Four/five stars.
Here is a coup d’etat for the hemophilia families of Delaware. On July 23, Governor Jack Markell signed a bill into law that caps the cost for drugs to treat chronic conditions like hemophilia. Specifically, the law limits co-payments for prescription drugs.
According to Markell’s office, under the law the co-pay for these specialty drugs will be limited to $150 per month for up to a 30-day supply. Patients will also be able to request an exception to obtain a specialty drug that would not otherwise be available on their health plan.
A news wire cites Executive Director of the Delaware Valley chapter of the National Hemophilia Foundation Ann Rogers: “The average cost of hemophilia medicine per month is $40,000. So, when insurers proposed high cost sharing at 25 to 33 percent of the actual cost of the drug each month, we were panicked,” said Rogers. “That would be 10 thousand dollars out of pocket each month.”
The law goes into effect January 1 in Delaware and is the triumph of three years of negotiation between insurers, advocacy groups and others.
Rogers adds her group and others are already using the bill as a model for similar legislation in Pennsylvania.
“This model of first a study,” says Rogers, “then a recommendation and then legislation introduced to regulate this [issue] was the process used in Delaware and we found it to be a fair, transparent process that fleshed out the issue and resulted in a law that would protect families.”
Excerpted from http://www.wdde.org/47347-delaware-specialty-drug-cap#sthash.DhO0HbcF.dpuf
Times have been tough these past two years. I’ve been in business in the hemophilia community for 23 years and have never had so many call us for financial assistance, from helping to
pay tuition, to paying electricity bills, even the cost of gas to get to clinic.
Everyone in hemophilia should know about a program from Hemophilia Federation of America (HFA) that can help community members facing hardship.
HFA is a national nonprofit dedicated to advocating for, assisting and representing the bleeding disorders community.
Their “Helping Hands” program provides urgent assistance to individuals and families in the bleeding disorders community who are in a crisis situation. In 2011-2012, HFA distributed over $240,000 to about 470 households to help with expenses such as: housing, transportation, utility bills, and car payments.
And don’t forget your membership matters! In 2013, 100% of membership dues will go directly to the Helping Hands program. Become a member
today to help YOUR blood brothers and sisters in need: http://tiny.cc/irbs0w
Good Book I Just Read
Defending Jacob by
William Landay
Set in a suburb of
Boston, this novel tells the tale of Andrew Barber, a respected assistant
district attorney whose 14-year-old son is accused of murdering a classmate. His
world is shattered, his career is ruined as he prepares to fight the very court
system he has worked in for 20 years, to protect the mysterious and reclusive
son he loves. But the neighbors, courts and media are out for blood, someone to
blame, and all evidence points at the son. How far will Andy go to protect his
son, and discover the truth? I learned a lot about legal terms and matters, and
it’s a riveting tale, well told, with a twist in the end. A great
sit-on-the-beach book. Three/five stars.
The story in the news about the woman who died at a theme park in Texas got me thinking of rerunning one of our articles about risks for kids with hemophilia at theme parks. Here is a great rerun from the August 2002 issue of PEN, written by Dr. Richard Lipton.
Summer is here, and millions of families will seek adventure and thrills at theme parks like Six Flags, Disney World or Universal Studios. What a wonderful day a family can have at a theme park! Kids and parents love the rides, water slides, entertainment and general excitement. Are there any special safety concerns or precautions for families with a child with hemophilia? Yes!
Think of a theme park as a very big playground, but with an atmosphere favoring less parental control—a setting that can lead to impulsive behavior by children.
Imagine yourself at a typical theme park. You’ll have general health concerns. Parks can be crowded, hot and sunny—so apply sunblock and drink plenty of water.
Theme parks have paved surfaces, harder than public playgrounds, and filled with children running. Your child needs to wear appropriate footwear. Flip-flops or “Tevas” might be suitable for water activities, but sneakers are safer for walking and running.
You’ll also have concerns specific to the theme park you visit. “Mind Eraser,” “Shockwave,” and “Nitro”—what about these special high-end rollercoaster rides? Riders are frequently subjected to changing speeds that result in “G-forces” similar to those experienced by trained, appropriately suited and restrained combat fighter pilots. Your child becomes “Top Gun” in shorts and a T-shirt! Parents should remember that any person can experience head trauma on these specialized rides.
How is the head affected by a ride like the Mind Eraser? Recall that your brain is surrounded by fluid; it is floating inside your skull. This arrangement cushions the brain, and reduces movement, protecting
your brain from direct trauma and sudden shifts in skull position. It works quite well in our daily activities, and in automobiles (as long as we’re wearing a seatbeat). Now imagine speeding over the crest in a roller coaster. All of a sudden you’re weight- less, like an astronaut—this is called a Negative G- force. (You’ll have no trouble recognizing this moment, because every- body screams!) Then, after the coaster speeds down and resumes its climb, you feel your backside being pushed into the seat. It feels like the force of gravity has suddenly increased. This is a Positive G- force. Although your body is restrained, high G-forces could exceed the protective cushioning of fluid surrounding the brain, and could cause injury.
Interestingly, this year New Jersey became the first state to seek legal restrictions on the maximum allowable G-forces on amusement park rides. The regulations result from concerns raised by physicians about the association between neurologic damage and high G-forces on these rides. Certainly, such injuries occur very infrequently, but serve as a cautionary note to all riders of high-end roller coasters—with hemophilia, or without.
My advice? Take some precautions. Level the playing field by giving your child a prophylactic infusion of factor the morning of your visit to a theme park. Yesterday’s dose is not sufficient! Don’t wait until your child reports the symptoms of a bleed—it may be too late. Besides, your child is not going to report the flop he took running to the haunted house until you’re stuck in traffic on the long, long ride home.
Infuse first, then have a great time!
Dr. Lipton is the Physician in Charge of the Hemophilia Treatment Center at the Long Island Jewish Medical Center. As a United States Air Force Physician (1966–1968), Dr. Lipton knew several fighter pilots, who took him on “joy rides” (with lots of G-forces) that more than fulfilled his childhood fantasies.
Great Book I Just Read
The Haunting of Hill House by Shirley Jackson (Kindle)
This could be America’s greatest ghost story novel. Two women are summoned by Dr. Montague, a paranormal investigator, to Hill House, a deserted Victorian mansion, once owned by Hugh Crane, whose wife died in a horse-drawn carriage accident coming up the long road to the house, on her first trip there; Hugh’s daughter was raised there in isolation, and eventually became an old woman, dependent on a caretaker, who abandoned her one night while having a romantic liaison–the elderly daughter died. The house is now “vile” in appearance and rumored to be haunted. The women are invited to stay for a week, to see if their presence may stir up any ghostly activity. Each women is believed to have some sort of experience with the supernatural. Theo is sharp, attractive, sophisticated and sure of her abilities; Eleanor is a plain spinster, shy and awkward, who spent the last 11 years caring for her sick and demanding mother. For Eleanor, this is the most exciting and significant thing she has ever done in her life. And so the story takes off, chilling and psychological. Is the ghost of the dead caretaker, whose life mimicked Eleanor’s, walking the hallways? Who is responsible for the pounding on the walls at night, the chilling laughter, the handwritten messages on the wall? Is Eleanor crazy, or is the house haunted? Skillfully written, a pager turner and a deep psychological profile, the book has justly earned its kudos. The 1961 black and white film “The Haunting” by the famed Robert Wise is truly one of the scariest movies I have ever seen… and yet “nothing” actually happens… or does it? Four/five stars.
I spent 10 days in the Dominican Republic recently, and the highlight was our annual camp for about 40 boys with hemophilia. If you read my blog from last week, you will see that many of our boys live in extreme poverty. As founder Haydée de Garcia, president of FAHEM, the national hemophilia organization said, “Camp for them is like going to Disney World for an American child with hemophilia.”
Camp–no matter how grand (like Paul Newman’s camps) or small–like ours–is magical for any child but especially a child with hemophilia. Here, they get to be a regular kid, able to do so many things normally not allowed or even conceivable. Our boys played “baseball,” using their bare hands and a rubber ball, but with what competitiveness! (Baseball is a national passion here) They made masks for carnival, the theme of the camp. Swam in a huge pool, did competitive ball games, had rap sessions with a counselor, watched movies, and best of all… got factor. The DR bought no factor last year, at all. What they had came from donations, like from Project SHARE, our humanitarian program. All the factor at camp this year was donated. And without factor, there would be no camp.
Get your carnival masks ready!
We had a few surprises, like a visit from baseball great Stan Javier, formerly of the Mariners and Giants. And on the last day, Carnival! After breakfast, we heard horns blowing, percussion, and across the lawn came a carnival crew, and everyone got in on the action. No one can party like the Latinos can!
I’ve watched this camp grow from an idea on paper, to a first attempt in 1999 to now a world class camp. It’s a model for anyone running a camp for kids with hemophilia in developing countries. My boys, who were ages 8 and up in 1999, are now in their twenties and are counselors–and tower over me! They love that I return to camp when I can, and I in turn love to be there, and love them. They teach me all the time about reliance, appreciation and giving back. Some of them were in constant pain at camp this year, discernible only by a serious look on their faces when they thought no one was looking. They do without: ice applied to a joint instead of an infusion of factor. But nothing dims their joy. We should all live so in the moment, with such joy.
(Thanks to Save One Life for a donation to help meet camp expenses! Many of our beneficiaries attended camp. If you want to help with camps like this,consider making a donation to our camp campaign going on now at www.saveonelife.net Gracias!)
Abil loving pool timeJoint damage on a boy with hemophilia
Wilson relaxes on the swings
Laurie suggests exercises to do
The winners!
Learning to do an infusionStan Javier of the Giants visitsMecho and Laurie join in!
Till next year!¿Quien es?
HemaBlog Archives
Categories
Download Now
Would you like to be added to our email list to continue to recieve future editions of PEN in PDF format?
LA Kelley Communications - You are leaving our site
You have clicked on one of our advertiser’s links. Our provision of a link to
any other website or location is for your convenience and does not signify
our endorsement of such other website or location or its contents.
Jennifer illustrated what each mutation might be like if we used a sentence as a DNA sequence (three-letter words are similar to the DNA sequence of three-letter codes): “The One Big Fly Had One Red Eye.” Each mutation makes the sentence read strangely! The body can’t figure out how to produce factor properly when the instructions are so scrambled.
In this fictional tale, the narrator somehow visits an identical civilization to Earth’s, in every way, though he is on Uranus. But he learns that the thought processes and psychological lifestyles of these people are strangely different. They experience positive human emotions naturally. They experience negative human emotions only through machines designed to elicit them (very creatively told!). On Earth, we create negative emotions when they don’t really exist, or don’t need to exist, because there is no external “machine” that prompts them. Jealousy on Uranus is caused artificially. The parable is that we create our own misery and can just as easily rid ourselves of it through free choice. Eykis, a beautiful Uranian inhabitant, comes to Earth to observe and then leave us her gifts of observation, in how we can take advantage of our freedom not to engage in negative thinking, such as anger, anxiety, fear, jealousy, and above all, blame. Everyone is responsible for their own emotions. Great story, simply told, easy read, powerful message. Four/five stars.
