My Life Our Future

My Life, Our Future Enrolls 1,000!

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  
[Kindle
Edition]
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 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.
The majestic red rocks
of Arizona
Deena Lapinski
and Laurie Kelley
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.
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.
With the BioRX ladies!

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.

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