September 2017

Puerto Rico: Mi Corazón se Rompe

My heart breaks. I sit at home tonight, trying to imagine what it would be like to have my house half submerged in water, a fallen tree slicing through one bedroom, my clothing and photographs ruined, the sewers backing up into the rushing water from the overflowing streets, my two cats missing and presumed drowned, my daughter huddling with me, unable to contact anyone for help because all electricity is out, and our cell phones were lost during the roaring winds, downed lines, and river of rain left in the wake of a massive hurricane. Our beds are soaked; food in the fridge ruined and submerged in the muddy water; medicine soaked; streets impassable.
No way to contact relatives; no way to call for help. Creatures of the night and underground now emerge to gasp for air: snakes, spiders, rodents, carrying disease and threat of bites.
Society has broken down and we wait and wait in the dark, throughout the day, and into the next night, for help of any kind. We’re hungry and thirsty, dirty and shivering. And alone.
This is the situation for so many families in Puerto Rico, where not just one town, or even just the capital was pummeled by Hurricane Maria, but the entire island. This tropical semi-state, a possession of the US, a warm, colorful albeit poor place, dependent on tourism and the welfare of the mainland, is now a ravaged
wasteland, and it will take months, perhaps years to rebuild.
I feel for Puerto Rico so much, probably even more than for the states of Texas and Florida. The needs in PR are massive; they were in economic trouble long before Maria hit; it was so bad that many Puerto Ricans were leaving the mainland in droves, for better medical care and education. And PR is an island, making rescue and ferrying aid so much more challenging.
I have been going to Puerto Rico since 1998, when I first visited to check out the hemophilia situation there. (Read our in-depth article about hemophilia in PR here) Though they belonged to the US, and were entitled to US funding for healthcare, they only used one factor product, a plasma-derived! Through the years, helping the newly resurrected Puerto Rico Hemophilia Association, we all helped bring patients together and pressured the medical community to investigate new products. The result? A variety of products in the mid-2000s, including recombinant, and a strong, patient-driven hemophilia association. I watched this group form, develop and grow into a powerhouse.
And this is before Hurricane Maria…
Mother Nature has set us back, but has not defeated us. I say “us” because I am still with PR. At the NHF meeting in Chicago just in August, I met with one of the island’s pharmaceutical reps and we talked about hosting another visit, to do more leadership training, to keep things moving forward. It will have to wait.
For now, we urgently need to get supplies into PR. Because our company and especially Zoraida, director of Project SHARE and who is from Puerto Rico originally, deals with humanitarian shipments, we will be contacting the manufacturers to see who is donating factor to the hospitals. We will be asking our readers and friends on Facebook to consider donating material supplies and necessities.
But… many people hesitate to donate to a place like Puerto Rico. Will the donations go into the right hands? I get it. At Project SHARE we diligently follow each vial of factor to its destination. But what about clothing and supplies to Puerto Rico?
We have a way. Allison Plaud, a mother of a child with hemophilia I met on one visit (and who has since emigrated to mainland US), has assured me that one of her trusted friends, a businessman, is collecting donated items and will be shipping them on Saturday to PR.
We endorse Allison and her friend, and beg everyone in the hemophilia community to donate items to ship.
Here are the items, and 
where to donate!
And here is the situation in Puerto Rico.
I am haunted by the images, and by their suffering. Forget athletes kneeling, politicians sniping. Let’s be real Americans and do
what Americans are best known for: being the first to help. Puerto Ricans are Americans and we must help them. This
is when I am proudest to be an American!



Here’s to Living! with Hemophilia


The following content is sponsored by Bayer. 



Here’s to Living! with Hemophilia

As part of Bayer’s commitment to the hemophilia community, we’re working together with patients, caregivers, healthcare professionals and advocates to make a positive difference.  We’ve developed resources, programs, and opportunities to help every family put the “living” in living with hemophilia. Our aim is simple — educate you about hemophilia A so you can make more informed decisions about living  with hemophilia on your own terms, at every stage of life.

  • Living With Hemophilia
    • Customized presentation series designed to help educate and enlighten those living with hemophilia
  • Smart Games
    • An interactive way for young children to take steps toward understanding hemophilia
  • Transition Ignition
    • Helps teens establish a comfort level with hemophilia and practice treatment management skills
  • Game On
    • Empowers young adults with hemophilia to be accountable for their treatment and make healthy choices
  • And Now… Back To You
    • Designed to help adults with hemophilia rediscover goals related to career, education or passions
  • Parents Empowering Parents
    • Peer-to-peer program for parents of children with hemophilia
  • M-Powered
    • For hemophilia moms to gain practical tools for success while building connections for a lifetime
  • Bayer Leadership U
    • A summer internship for college students whose lives are touched by hemophilia
  • Step Up Reach Out
    • An international youth program that connects future leaders in the community
    • An international fellowship program for men with hemophilia, designed to develop and expand leadership and advocacy skills

For more information about our programs and resources, please visit the newly updated

© 2017 Bayer. All Rights Reserved. Bayer, the Bayer Cross, and Living With Hemophilia are registered trademarks of Bayer. PP-775-US-0792

Our Brave Explorers

I recall watching the movie “The Lost City of Z” this summer, about Percy Fawcett, a British soldier turned explorer who several times went deep into the heart of the Amazon to locate what he thought would be Eldorado, the city of gold. The movie clearly showed what he gave up for years at a time: beautiful, intelligent wife, three adorable children, a home, relationships.
What it didn’t really tell you was why. Why abandon all this, leaving your children to grow up fatherless, your family to slide into poverty, to suffer the terrible depredations in search of something that might not even exist?
I asked that this week when I learned of the death of a patient with hemophilia in a clinical trial for a new factor product. We have good treatment here in the US; we have safe and efficacious products, dedicated HTCs. Why risk your life for a product that may or may not work?
To me, the patient was himself an explorer. Willing to risk all for something greater than himself. A hope of a new treatment, an advancement in science and medicine. We don’t know who this explorer was. Surely someone in our community knows who is it, and eventually it will be revealed, but for now, until an investigation is complete, he will remain known as an Explorer.
Facebook has lit up with comments, some cautious, some not so cautious, about the risk involved in clinical trials. Is it worth it? Did the patient really understand what he was undertaking? Most likely he did. Like Fawcett, explorers research, read, learn and
understand what could happen. They know the risks. But they still seek to make a lasting contribution. I’ve studied for decades the lives of the explorers: what makes a person a Columbus, an Earhart, a Livingstone, a Scott, a Shackleton, a Mawson, a Magellan, a Hillary? True explorers are in a class of their own as they forge a path through life.
George McCoy of North Carolina
While this news is making headlines throughout the country
and world, more quietly, another explorer just died on August 23, after
fighting pancreatic cancer. George McCoy was born in 1947 and had severe
hemophilia A; he contracted HIV and hepatitis C. He earned a master’s degree in
education from the University of NC, and worked for 31 years for NC Department
of Health and Human Services, helping people with disabilities. He helped found
Hemophilia of North Carolina, which is today one of our best run patient
organizations. He never stopped working for the community, from stuffing
envelopes to public speaking.
His amazing claim to fame is that he was the first person dosed with recombinant factor VIII in 1987.
George McCoy and Laurie Kelley 2012
He was an explorer, volunteering for clinical trials with these new, biotech drugs. It was considered risky then; these were genetically created drugs, a new field in medicine. And these drugs revolutionized hemophilia treatment at a time when the community was suffering through the devastation of HIV.
George was a daring explorer and public servant, who dedicated his life to serving those in need. I met him in 2012 at the World Federation of Hemophilia Congress in Paris, where he gave a profound speech about his volunteering for science.
Read “MadMan or Guinea Pig?” About George McCoy
It’s human nature to point fingers when tragedy strikes; we feel someone must be held accountable. An investigation is underway to find the exact cause of the patient who died, but there is speculation and some information; a note on the Facebook page “BioSpace” says, “The patient was suspected of having viral meningitis and died from a thrombotic event.”
Read the official statement from the company here.
And one of our popular advocates in the community on Facebook wrote: “He gave his life so that we may see better treatment… Please think carefully and fully understand the risks entailed when your HTCs ask you to join a study…If you ever find someone pushing you to participate in a drug study, pay attention to their motives… Thank you to whoever it was that lost their life in this drug study.”
Whoever it was, like George McCoy, he was one of our bravest explorers.



It’s New! Therapeutic! And Coming Soon!

Dr. Glenn Pierce
With a record-breaking 2,987 in attendance, NHF’s 69th annual meeting in Chicago on August 24-26, was the largest and most varied!
Two of my favorite speakers at NHF Annual Meetings and whose sessions I always seek out, are Glenn Pierce, MD, PhD and Steven Pipe, MD. And they did not disappoint! Although it would take an entire blog to list all of the accomplishments of these two highly respected individuals, suffice to say that they are both very knowledgeable about bleeding disorders in general and about clotting factors, novel treatments and gene therapy in particular. And they both share a relatively rare ability: they are able to explain complex medical topics to consumers in terms that we can understand (okay, mostly understand!)
In Dr. Pipe’s Friday morning session, “The Cure Horizon: Point/Counterpoint”, whom he co-hosted with Dr. Rebecca Kruse-Jarres, Pipe played the part of advocate for gene therapy and his counterpart advocated for “small molecules” (novel, non-factor treatments for preventing bleeds). Later that day Dr. Pierce gave the plenary session on “New Treatments and Gene Therapy.” Although both sessions covered some of the same information, they did so from different perspectives and it was beneficial to attend both.
Dr. Steven Pipe
Here’s a recap of the two talks regarding new therapies on the horizon. On the “small molecule” side there are three different approaches being investigated that can reduce bleeds without the use of factor. One therapy, emicizumab, or better known in the community as ACE910, is likely to be the first to market—and soon. ACE910 is a therapy for hemophilia A ,with or without inhibitors. It is a bi-specific antibody (meaning the antibody can grab two different factors at once) designed to mimic the function of factor VIII by bringing together factors IXa and X to initiate clotting. It is
administered weekly as a subcutaneous injection. Genentech’s ACE910 has been granted priority review by the FDA and their license application may be approved as soon as February 2018. (It was also mentioned that repeated doses of aPCC, a by-passing agent sometimes used by people with inhibitors, in conjunction with ACE910 can result in unwanted clotting.)
A second approach involves blocking the function of a player in the clotting cascade called tissue factor pathway inhibitor (or TFPI) that serves to check the clotting process so it does not runaway out of control. This therapy, called concizumab or anti-TFPI, is also an antibody and also administered subcutaneously. It blocks the function of TFPI and is effective in reducing bleeds in people with hemophilia A, B as well as those with inhibitors. Anti-TFPI has entered phase 2 clinical trials this summer.
The third approach uses genetic material that blocks a cell’s ability to produce antithrombin, which like TFPI, serves as a check on
coagulation. Called fitusiran, this agent interferes with the cell’s RNA involved in the production of antithrombin—in short, it prevents the cell from making antithrombin and restores a “balance” between the two parts of the clotting process: one that makes clots and the other that stops the clotting process. This agent is in phase 2 clinical trials.
All three of these novel hemophilia treatments were referred to as “disruptive therapies.” This is similar to the term “disruptive technologies,” which “refers to any enhanced or completely new technology that replaces and disrupts an existing technology, rendering it obsolete. It is designed to succeed similar technology that is already in use”1. Examples of disruptive technologies include DVRs, which displaced VHS recorders; PCs, which displaced both typewriters and mainframe computers; and laptops, which displaced desktop PCs and might soon find themselves displaced by tablets; and tablets which may be replaced by ever-larger and more powerful smart phones, which themselves have disrupted the telecommunications industry. The emerging small molecule therapies for hemophilia will be more convenient, last longer, be easier to administer and will likely be less expensive than clotting factor concentrates. They will upend the market for factor concentrates, which have been the mainstay treatment for hemophilia in developed countries since the late 1970s. And, of course, gene therapy is on the horizon, which will then disrupt the market for small molecule therapies for hemophilia.
And what about gene therapy? Both speakers mentioned significant advances made by two companies, Spark and BioMarin, which have been successful in converting individuals with severe hemophilia into mild hemophilia, with Spark reporting sustained factor VIII levels of 12% and 14% in two patients. These levels are high enough to prevent spontaneous bleeds. This brings up the question: what level of factor expression represents a cure? Should we wait until gene therapy can cure hemophilia by raising factor levels above 50%? And of course, the question of cost is forefront in everyone’s mind. These questions have yet to be answered.
The times they are a changin’! Never before have we had so many factor products on the market, with new factor products, as well as disruptive small molecules and gene therapy, still in development. What is certain is that, in the near future, hemophilia therapy will look dramatically different than it does today.
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