ATHN

My Life, Our Future Enrolls 1,000!

Laurie Kelley August 11, 2014
Last summer, I blogged about a new program called My Life, Our Future, a nationwide initiative between NHF, ATHN, Puget Sound Blood Center in Seattle and Biogen Idec that offers free genotyping to people with hemophilia in the US. As you may have seen around NHF’s Twitter chat on 7/23, the program has since successfully enrolled more than 1,000 participants! This is a significant milestone for the program and a great example of our community joining together and taking action to help advance scientific breakthroughs.
During the chat, the community showed great interest in the
program and how it works. There are two components to My Life, Our Future (or “MLOF”). The first is a blood test that enables people to learn more about the specific genetic mutation that causes their hemophilia. Already, 61 new mutations have been discovered through the
program. Participants also have the option to contribute their data and samples to a central repository. Once 5,000 people contribute to this research “bank,” scientists will be able to study the data and samples, potentially leading to improvements in care and treatment.
Getting Involved for Future Generations
Guy Law of Erie, PA, participated in MLOF for just that reason. “Hope comes to mind when I think of MLOF,” says Guy. “I hope my participation
in the program can positively impact families with hemophilia in the future.” Guy, who has severe hemophilia A and has long been an advocate in the
community, learned through MLOF he has a unique mutation. “I know the word “cure” gets thrown around and I’ve accepted the fact that in my lifetime there may not be one,” he said. “But if I can contribute to a research project that may eventually lead to a treatment breakthrough, I’m happy to.”
Dr. Barbara Konkle, director of clinical and translational research at Puget Sound Blood Center, hopes that everyone with hemophilia A and
B participates in MLOF because of its value today and tomorrow. “Genotyping provides meaningful information about a person’s hemophilia,” said Dr. Konkle. “By building a robust bank of data and blood samples for researchers to study, we can deepen our understanding of the disorder and hopefully advance the science.”
Interested in participating? The program is currently available at 42 HTCs across the country, and expanding to additional locations regularly. Visit the MLOF site to see if your HTC is offering the program.
MLOF By the Numbers
•
MLOF is now available at 42 hemophilia treatment centers in 26 states
•
80% of participants have opted to participate in the research repository
•
61 new mutations have already been found
•
Once 5,000 people have consented to participate in research,
scientists at academic institutions or companies can apply to study the data
and samples


Great Book I Just Read

Flight 232: A Story of Disaster and Survival  
by Laurence Gonzales
Sioux City, July 1989: one of the worst aviation disasters ever. A DC10 cart wheeling on the tarmac
after the hydraulics completely fails. Gonzales tells the story of the crash
over and over, through different angles by probing the different experiences of
many involved: survivors, crew, rescue workers. His excellent research in interviewing
so many who lived through this puts you there; he also delves deeply into the engineering
flaws that led to the crash. You will learn a lot about titanium. And that so
much of survival in an airplane is sheer luck. It is amazing that so many
survived the crash; the pilots were absolutely heroic. Gonzales is an expert on
survival, and follows the survivors just after the crash and then a year later.
The testimonials are surprising—what goes through someone’s mind, as a plane is
disintegrating—and poignant. The most important thing in our lives is
relationships, most conclude. Four/five stars.




Genotyping: Helping You, Helping Our Future Families

Laurie Kelley August 12, 2013
Laurie Kelley with Cindy Komar

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.

How to Do Prophy the Right Way!

Laurie Kelley July 30, 2012
I’m back from a fantastic time at the Florida Hemophilia Association’s annual family meeting. About 330 people attended, and we presented Pulse on the Road, which I’ll write about in a few days, once I have the photos back! There was a motivational speaker, our insurance symposium, a men’s rap session, a woman’s session, and a thorough presentation by Dr. Glenn Pierce of Biogen Idec on long acting factor and gene therapy, and an

Dr. Joanna Davis: excellent presentation on prophy 

energetic kids program.

 This morning I attended a very detailed and comprehensive review of prophylaxis. You know, many families do prophy, and I have read about it, and researched it, and written about it for years. But today reminded me, you just can’t get enough education on the subject, and we all need to be reminded of the basics. Dr. Joanna Davis, Medical
Director, Div. of Pediatric Hematology/Oncology, University of Miami Hemophilia Treatment Center, and local “celebrity” as she was introduced, gave a five star review of hemophilia basics and how to do prophy the right way.
I liked how she described prophy as an attempt to mimic “nature” by boosting factor levels up in the normal range by planned and frequent infusions, whether a child needs them or not. She reviewed the difference between different prophy regimens:
Primary prophylaxis: begins with the first bleed, and is often an indefinite course of therapy. It prevents joint damage.
Secondary prophylaxis: aimed at treating a target joint or providing coverage during a high-risk situation such as team sports, or after a surgical procedure. It stabilizes or improves joint function.
Then she covered some basic definitions that we all need to know:
Peak level: the level of factor activity reached immediately after an infusion.
Trough: the lowest level of factor activity left over before infusing again.
Half-life: the time it takes for the factor levels to drop to half of what was infused. For FVIII: about 8-12 hours, for FIX, about 24-48 hours.
She explained in practical terms what this meant for prophy: let’s say you infuse on a Monday and you peak at 100%, for example. By Monday evening, a factor VIII patient may be then at 50% factor activity (which means still in the normal range). By Tuesday, the factor activity drops to 25%, and by Tuesday evening, maybe down to 12%. Just before infusing on Wednesday morning, the patient’s levels may be down to 2%–the trough. So prophy is scheduled according to a series of the peaks and troughs of factor activity.
Dr. Davis reminded the audience that on Friday, you may do your third prophy shot of the week. By Monday you’ll be depleted. She reported that
some families do a double dose of factor on Friday, to boost levels high, so the half-life does not bring the factor activity down to 2% by Monday morning.
Some of the barriers to prophy? Venous access—many children’s veins can’t take all the infusions and needle sticks, so a central venous access
device might be in order. This presents its own risks, such as blood clots. And sometimes, children may balk at such frequent infusions, and teens can be in denial and refuse to do their infusions (oh yeah, I can vouch for that one!). And the big issue is cost. Prophy ain’t cheap.
The best time for prophy is the morning, even though our ridiculously over-scheduled lives often make us want to wait till evening. Think about it: infuse at night, when things are quiet, and by morning you’ll only have half the factor working! Best to infuse in the morning, when your child is most active and when the factor is working strong, at 100%.
This was a great overview of prophy and the audience responded
with excellent questions.
After Dr. Davis’s talk, Alan Shier, of ATHN, spoke about the importance
of keeping logs about bleeds and presented the ATHNAdvoy, and wow! What a great
presentation too and what a great device. This is a web-based tool that will
help you track your bleeds and product usage, is accessible by your treatment
center, and can produce reports in a heartbeat. This is also available as a
mobile phone app, so you can use your Smartphone to quickly scan in your product,
report your bleed, and then you will always have a constant record, which you
can even print out in colorful reports. THIS COULD COME IN HANDY IN THE NEW
INSURANCE REFORM CLIMATE! Have I said that clearly enough? We should all be
recording every vial of factor we use. I would highly recommend using the
ATHNAdvoy.
About 11,032 hemophilia patients have already registered for this, which is astounding. All the data is kept in aggregate and no personal information,
including your name is kept. A bit hard to explain all this in a blog; I recommend
visiting www.ATHN.org to lean more!
Thanks to Debbi Adamkin and team for a fabulous time and meeting! (Debbi, aka Wonder Woman, I owe you a dance off)
Great Book I am Reading

In Cold Blood by Truman Capote

After watching the movie “Capote,” starring Philip Seymour Hoffman (fantastic), I felt compelled to read this, especially as the movie ended with the fateful words that Capote never wrote another book, and died of alcoholism. If the story of the writing of the book is compelling, the book is sheer brilliance. Capote does more in this book than document the shocking 1959 murders of Herbert Clutter, a wealthy farmer from Holcomb, Kansas, his wife, and two teens. Capote interviewed everyone and anyone connected to the case and living in Holcomb, including the murderers themselves, taking six years, and created a whole new genre in literature—the non-fiction novel. It certainly became the first true crime novel and was a raging success. Skillfully, almost lyrically written, well paced although it seems to weave its way through the minds of the killers at leisure, this is a masterpiece and not to be missed.

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