HFA: Together We Rock!

Laurie Kelley and Chris Seistrup
Laurie Kelley with Chris Seistrup, a cyclist who will raise money for Save One Life

The Hemophilia Federation of America sure knows how to throw a party! And a three-day meeting, all aimed at educating the community about bleeding disorders while providing a busy but intimate venue for meeting up with old friends, acquaintances and business colleagues. And held in Cleveland, with a final evening a celebration at the Rock and Roll Hall of Fame, the theme “Together, We Rock” was absolutely true and we did!

I was able to attend some sessions while there, in between visiting our Save One Life booth and greeting sponsors, donors and interested people, and chilling with some very great friends (Debbi Adamkin, Neil Herson, Ray Dattoli, Melissa Compton, to name only a few). First was an invitation-only meeting with Genentech about mlibra, and specifically the recently reported deaths. About 20 consumers, all key opinion leaders associated with hemophilia organizations) attended. I won’t go into that here in much detail, as the meeting completely corroborated with the article Paul Clement wrote in the May issue of PEN, available on our website.


Laurie Kelley and Liliana Gomez, with her award for her work in Puerto Rico

In a nutshell, though, Genentech shared how Hemlibra has been granted Breakthrough Designation Status by the US FDA to fast-track approval of Hemlibra for noninhibitor patients, based on the HAVEN 3 study data. Conversation turned to the five deaths, out of the 600 current users of Hemlibra globally. Genentech walked us through each death, one by one, what was known and what was reported. We now know that two were Americans, one of whom was in a clinical study. While the explanations all made sense, Ray Datolli, a COTT representative, remarked, “It’s always a clinical study, and it’s always 1981.” The other attendees also commented that the delay in learning of the five deaths was a problem; the community wants to know sooner about these “adverse events.” Genentech then reviewed why they cannot comment on the deaths, for reasons we spell out clearly in our article, and in some cases, the families of the deceased themselves did not want the information released.

Debbi Adamkin, executive director of the Florida Hemophilia Association commented too that the community needs to be educated that Hemlibra is not a cure, and many think it is!

Laurie Kelley with Crystal Higgins and Tracy Farmer

To learn more about Hemlibra, please read our article in the May issue of PEN.

Another good session was on inhibitors, by Vanessa Byams of the CDC. We learned that the CDC hosted a second national inhibitor summit in January 2017 and is closely following inhibitor trends in our community. Its goal is to share information from the community, and to discuss how to collect high quality data, to make sure inhibitor tests are accurate. NHF’s MASAC has an Inhibitor Prevention and Eradication Working Group, which has led to a national collaborative effort to increase enrollment of babies with hemophilia and inhibitors in the CDC Surveillance study. The bottom line is, all hemophilia patients are at risk of inhibitors (with certain exceptions) and there is a lot of research happening on inhibitors. Vanessa said that in the last 18 months alone there is “an incredible movement and action” regarding inhibitor research. “The road to inhibitor prevention starts with national surveillance, including regular screening and early detection If you detect it early, the better the chance of eradicating it.”

One clear hole in our weekend was Barry Haarde: we were all missing his presence, as HFA was truly a home away from home for him. His sister Emily came to fill in for him, and we all shared Barry stories, while admiring his contributions to HFA and Save One Life, which helped so many around the world. With sadness and sweetness, we all felt his absence all too well.

Metallica fans rock!

On Saturday morning, Novo Nordisk sponsored a “B Yourself” symposium for families with hemophilia B. It was very lively, as the audience could participate in answers using the buttons at their desks; answers were tallied and displayed instantly on the screens, from tables designated with rock and roll names: The Rolling Stones, the Beatles, Prince, etc. It made it all the more fun. The topic was mostly about pharmacokinetic (PK) testing, with different patients sharing about their different half-lives, and different dosing schedules. It got pretty technical but was fascinating. It really is imperative that every person with hemophilia know their PK levels, because we now know that you cannot dose just by weight and correction percentage—you do need to know your half-life. We will have some great articles about that in the November issue of PEN.

Laurie Kelley and Pat DeRatto, long time
friends and hemo-moms!

I spoke with dozens of people, all involved in the community, from patients, to advocates, to chapter leaders to industry reps. Two main themes really became clear, one scary and the other exciting.

Scary? Funding in the community is being restricted. Every executive director of a chapter I spoke to commented on this. Our pharmaceutical sponsors are pulling back funding, perhaps as the marketplace is glutted with products, and we expect some consolidations and acquisitions (like Sanofi buying Bioverativ, and Takeda making moves on Shire?). No one is sure what will happen, but some programs may need to be cut.

Exciting? Gene therapy. More than one person said to me, “It’s not a matter of if anymore, but when.” Gene therapy is coming. How will it impact our lives, both as patients and as community employees?

We don’t know yet, but as we rocked the night away Saturday night to a great band at the Rock and Roll Hall of Fame, we celebrated the great advocacy and grassroots work of HFA and its team, celebrated being a family of people with bleeding disorders, and excited about what the future holds.

On the Horizon: HFA Part 1

Last week the bleeding disorders community met in Cleveland, Ohio at Hemophilia Federation of America‘s annual meeting. It was a fabulous time to meet with friends and colleagues, and to learn about new treatments in inhibitors, new drugs in the pipeline and about psychosocial issues. One of the best attended sessions was the one on gene therapy. Entitled “On the Horizon,” the session was a 90-minute review of new products coming our way, and an overview of gene therapy, how it works and who is working on it.
Dr. Sanjay Ahuja, medical director of Rainbow Children’s Hospital, first spoke about “New and Emerging Therapies.” Expression Therapeutics is working on “ET3i,” a recombinant
factor VIII (rFVIII), that should give a higher yield, with the focus on lower cost per unit.

Another interesting therapy is called “transgenic.” Pharming Group has found a way to derive transgenic rFVIII from the milk of rabbits. Ahuja explained that scientists have learned how to take a human gene that makes factor VIII, put in rabbits, and have factor expressed through their milk. This is called “lacto-recombinant factor.”

This generated laughs from the audience, and one man gestured like he was milking a cow. And while Ahuja joked that we could get our kids to drink more milk finally, the actual drug would not be in milk to drink, but commercially available as an infusion. It would be cheaper to produce, with a high yield, making factor much more affordable.

“New things and better things coming,” Ahuja said.
Many people in the audience already knew about the innovative therapy called emicizumab (commercial name: Hemlibra), a bispecific monoclonal antibody that mimics factor VIII by bringing together activated FIX and FX together, replacing the function of FVIIIa. It’s not a factor product! There was a brief discussion about the deaths associated with its use [see our upcoming article in PEN for a detailed discussion on these]. Bioverativ and Shire are also working on bispecific monoclonal antibody and Shire’s is actually a bi/trispecific. These drugs are called “FVIII-Mimetic.”
Another innovation for FIX is from Salk Institute/Arcturus Therapeutics, currently in pre-clinical studies. It’s not gene therapy, though it involves taking RNA to the liver to
make factor.
On the horizon for inhibitors are products in the FVII market. HEMA Biologics/LFB, are working on an activated FVII.  rEVO Biologics/LFB are working on FVIIa in transgenic rabbits.
Even a long acting, subcutaneous FVIIa is being made by Catalyst Biosciences and OPKP Health.
Perhaps the biggest surprise of all is rFVIII being made in lettuce at the University of Pennsylvania, and this you do eat!
Dr. Stacey Croteau, medical director Boston Children’s Hospital, and Associate Director of the Boston Hemophilia Center next spoke about gene therapy. She gave a brilliant overview, too detailed for here, but if you look at the slides, you’ll get a sense of just how much activity is underway. And all through the four-day conference, I kept hearing chapter leaders talking about not “if” gene therapy occurs, but “when.” More and more, it is becoming a reality.
Dr. Croteau first explained that there are three basic types of gene therapy:
1)   Direct therapy (injection into the patient)
2) Cell based (in which you take cells out, alter the genes, then reintroduce the altered cells to the individual, called ex vivo)
3)   gene editing (going directly into a defective gene to make it work)
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There was a good discussion of how adeno-associated viruses (AAV) are mostly used as the vehicles (vectors) to introduce the altered genes into the patient. Why a virus? They are good at replicating—viruses need to quickly replicate to infect the host and survive. But Dr. Croteau stressed that the AAV8 is stripped down and rendered harmless, so just the FIX gene is left. It’s then introduced back into the patient and goes to the liver (AAV vectors love the liver!), embeds into hepatocytes (liver cells), degrades and becomes part of that cell and starts to express normal coagulation factors into the bloodstream.
Dr. Croteau explained how difficult gene therapy is. You must get the gene delivered to the right cell type in sufficient quantities; then it must switch the gene on, all the time avoiding body’s natural immune response.
In 2011 there was the first successful AAV gene therapy for hemophilia B. With high doses, the patients in the clinical study had their factor levels go from severe to moderate and even to the mild range.
Not all gene therapy research is using AAV; there are all types of AAV vector subtypes. Looking at the slides, why so many? Not everyone will be eligible to use a particular vector. Just like with factor, one gene therapy won’t fit all. Dr. Croteau concluded that it’s good we have several options for gene therapy, and many look very promising!
To learn more about gene therapy trials, you can look at Clinicaltrials.gov
And very honorably, the speakers reminded us that those patients who have volunteered and are volunteering for new therapies and gene therapy make it possible for the rest of us to enjoy a higher quality of life. Indeed, they are our heroes.
This was a great session to attend; thanks to Drs. Ahuja and Croteau for their presentations! Please read HemaBlog next Sunday when I’ll give an overview of the entire HFA meeting… which was fantastic!

Puerto Rico Hoy

I’ve been so impressed with the efforts of Hemophilia Federation of America (HFA) to help our American community in Puerto Rico, that I wanted to provide their update on what’s happening with their relief efforts. We just made a donation, and I hope that you will too! People are still affected by the devastation of Hurricane Marie.

Disaster Relief

 by Hemophilia Federation of America

of Assistance Provided

We remain in contact with families affected by natural
disasters. Requests from families in California, Texas, and Florida have
dwindled, but we continue to provide regular assistance to families in Puerto
Rico who are still coping with the aftermath of Hurricane Maria.
As of
January 31, 2018, Helping Hands (for “Together We Care”) has processed 80 applications for disaster relief. Total
relief funds distributed to date are $19,708.53.
Moving into February, there are 13 pending applications in the works with
needs identified at approximately $26,000 and others to follow up on.
Primary types of assistance distributed includes groceries,
batteries, clothing, toiletries, cash assistance for household bills, aqua tablets,
water, first aid items, cold packs, and other basic needs and rebuild supplies.

We Care: Next Steps

The Helping Hands team and volunteers continue to support
requests for short-term immediate support and long-term needs such as home
repairs, furniture, etc.
Our team of social workers/counselors organized an extended outreach plan in late January 2018 to reach out to
families identified by the HTC that have not yet been served in our assistance
records. Cell phone service seems to be largely up and running now so the
current focus is via phone contact vs. home visits. Outreach includes an
assessment of short and long-term needs and evaluating if assistance should be
provided to the family.
With news reports of FEMA ending aid to Puerto Rico and
basic services still unavailable, recovery has been a slow journey for many
Puerto Ricans. January 31, 2018 new reports indicate over 500,000 households
are still without power on the island, particularly in rural and mountain
areas. We have met with community families as recently as the last few weeks who
still do not
have running water.
In our visits in recent weeks we have seen grocery stores,
gas stations, etc. largely be fully operational. While a great deal of cleanup
remains, roads are more and more accessible. 
The added challenge we see is that the months of shut-down resulted in
drastic increase of additional unemployment resulting in no opportunity for
income which only adds to the time it will take to get families back on their
Without question, the work of Together We Care is vital in continuing to support these families.
We can’t forget our Puerto Rican Americans with bleeding disorders once FEMA’s
aid ends.

Note from Kimberly Haugstad:

I had the opportunity to visit Puerto Rico in
January with Martha Boria Negron.  It
was a tremendous experience and an opportunity to see the hurricane impact
first hand as well as connect with some of our community in need. 
We traveled extensively through the island during our
stay.  Without a doubt, families are
still struggling and only slowing getting back to their normal.  We provided families with immediate
assistance and made follow-up plans for further support.
A few stories from many experiences are below. These families can’t
help but inspire our desire to do more, provide education and find ways to
connect the community on the island together, and to the US mainland.
Way up in the mountains we met Emanuel, a young
man with severe hemophilia. His home was destroyed in the storm and he and
his father were trapped inside for 2 days. He had a bleed after the hurricane
which necessitated a difficult trip to the ER in San Juan. They are in a
rented apartment now. He was just recently able to return to work.  Emanuel and his mom both expressed a wish
to learn more about different therapies and wished they had the chance to
meet other families living with bleeding disorders.
We met Devon whose mom works and his grandmother
takes care of him and his sister during the day.  Devon is 6 and very shy. His grandmother
knows he has severe hemophilia but not sure what type. We saw a clear
opportunity for family education here.
Carlos lives with his mom and grandmother. He is in
his late 20’s but as a teen, experienced a head bleed that resulted in
permanent complications. Carlos took us on a tour of his home and shared
where trees had come through his bedroom roof during the storm while he was lying
in bed. They have a partial repair but needed help to get it finished. His
mom was eager to connect and wishes to meet other families. She feels very
isolated right now. 
We met Elizer, a man in his 20’s with 3% FVII, a wife and baby boy.  After the storm he went to work for FEMA,
it paid more than his regular job. This resulted in his falling off a roof
and fracturing a vertebra. It took 8 hours in the ER to get factor. We met
him 6 days post-accident. In obvious pain, he hadn’t received factor since the
first ER dose.  No adult hematologist
had consulted, no plan for additional factor and surgery was under
Finally, I must commend the efforts of the pediatric
HTC in Puerto Rico. We spent an afternoon visiting and the HTC was very welcoming
of our efforts. We walked through an evaluation of our mutual lists of
families, identifying those who neither had yet heard from for future follow-up.
(They also promised to check on Elizer, they remembered him as a child at
their center.) The partnership and giving of time and heart was a gift. We are


About Together We Care: Disaster
Relief Efforts

The bleeding disorders
community has a long history of rallying around our families in need. In 2017,
the US faced an unprecedented number of natural disasters. National bleeding
disorders organizations such as Hemophilia Federation of America, the National
Hemophilia Foundation, the Hemophilia Alliance, Hemophilia Alliance Foundation,
LA Kelley Communications, the national network of hemophilia treatment centers
and others have partnered to create the “Together We Care” disaster relief assistance fund.
Families helped have been gracious and thankful
for the caring and support.
DONATE: www.hemophiliafed.org

Eyewitness to Destruction: Bill Patsakos in Puerto Rico

Bill Patsakos: Firefighter and father with heart

We’ve had only a few members of the hemophilia community visit Puerto Rico in the wake of
Hurricane Maria on September 20; this report is from Bill Patsakos, who was first from our community to visit from the mainland US. He is uniquely qualified to serve: he is an Army Veteran Medical Service Corp officer, a CVS Pharmacist and FDNY Lieutenant. He is also serving with FEMA, and is the father of three boys with hemophilia. Bill did not
hesitate to travel to devastated San Juan—he has family there too— and meet with Dr. Enid Rivera, pediatric hematologist and chair of hematology, at Hospital Universitario, an HTC
that serves hundreds of bleeding disorder patients. Bill is calm, efficient and deeply caring for his fellow Americans trapped in the aftermath
 Bill shares his eyewitness report with us: “Hurricane Maria, a powerful Category 4 hurricane with wind in excess of 150 mph ripped through Puerto Rico, drenching the island with feet of rain and devastating wind and storm
surge. The entire island endured power outages, complete loss of communications and no running water. The Governor Ricardo Rossello said, “Make no mistake; this is a humanitarian disaster involving 3.4 million US citizens.” San Juan mayor Carmen Yulin Cruz pleaded, “Help us! Without a robust and consistent help we will die.” [She has since claimed that about 900 have died, far beyond the official death toll of 51 lives as of October 20]. Many more are at risk due to disease, lack of infrastructure and access to basic necessities and medical care and medicines. 

Destroyed road

“The focus has been initially to restore power and communication capabilities to critical
facilities, firehouses, police stations and hospitals. I’ve been able to assist and coordinate medical shipments to four strategic pods located around the island and link up with medical volunteers to triage and deliver care to rural areas that are heavily affected. We’ve been able to visit patients that doctors were concerned about and deliver medications. To date we were able to collect medical supplies, surgical supplies and over the counter meds and approximately $350,000 in factor product and along with injectable drugs, refrigeration and storage. We’ve been able to assist major distributors and pharmacies in gaining assistance from FEMA for fuel and delivery logistics. We’ve communicated needs to volunteer organizations in obtaining tarps for temporary roofing and in some cases place some on roofs of residents. We have visited many hospitals and in particular Centro Medico and the medical school SJU which is the major medical institution on the island.


“There are approximately 100 patients with hemophilia and another 150 with von Willebrand disease. Click here to make a donation to help families with bleeding disorders in Puerto Rico! [Bill met with several patients to assess their needs.] “There’s Osman, a beautiful ten-month-old baby boy with hemophilia A. Maria Rodriguez Diaz, his mom, only 21, also experiences bleeds but was not diagnosed. “Osman has a newborn baby sister, who also has a bleeding disorder. Maria had to stop working as a security guard since she is frequently taking

Home ruined by Hurricane Maria

her kids to doctor’s appointments. The children’s father is currently working daily 12-hour shifts
as a security guard.  During the hurricane their house was completely soaked since some of their windows didn’t resist the strong winds.  All their furniture, clothes, and babies’ articles were damaged. Three weeks after the hurricane they only have water a couple of hours a day, mostly at night, and no electric power. Maria has been struggling to find access to the medication Amicar, since the pharmacies contracted with Medicaid didn’t have it available. She was very thankful that she would receive it as part of donations to the Pediatric Hospital. It’s sad how Maria says she’s ok while everything is going so badly for them.

 “We also met Joanne, a 20-year-old woman who was diagnosed with severe factor 5 deficiency (a prevalence of about one in a million). We listened to her story as she was being infused with factor. She lived with her stepmother, aunt, uncle and grandma in Ponce.  They were all evacuated from their home the day before the hurricane, since the house is near the beach. They lived in a refuge center for five days until they were able to return to their home.  When they arrived, what they knew as their home was no more. Their house was flooded, the floor on
top of theirs, where Joanne’s cousin lived with his family, was completely destroyed. So now there are eight members of the family staying in a space of a living room/bedroom with only two beds, no water and no electric power.  Joanne sleeps in one bed with her grandmother
(an open heart surgery patient, insulin dependent diabetic with asthma). They have a very small generator to keep the insulin cool, but with the gas shortage, they have to wake at 4 am to get in line to buy gas.  It has been very difficult for them to be able to purchase drinking water and in their area there is almost no food available in stores. She tried to smile but she seemed very sad and hopeless.

Destroyed patient home on beach

 “We then traveled to see Victoria Pereira, a patient who left the Island and is currently receiving help from HFA through their Helping Hands program on the mainland. As we arrived to her address, we sadly saw that the house was completely destroyed. “The people
of Puerto Rico are strong and resilient with tremendous dignity—they are Americans forced to live in third world conditions. We must work to restore Puerto Rico’s infrastructure while
simultaneously assisting their economy and jobs or else the island will face a mass exodus to the continental U.S. To date, 40,000 people have moved to the mainland US since Maria has struck. Please donate your time and money!” Click here to make a donation to help families with hemophilia in Puerto Rico through HFA, a reputable organization that will make a direct donation to the families! 


Bill Patsakos with Dr. Enid Rivera and HTC Team

Puerto Rico: Soy Carlinette

Lily Gomez bringing supplies to Carlinette

Puerto Rico continues to struggle from the ruins of Hurricane Maria, which struck the island on September 20. The hemophilia community is blessed to have incredible volunteers like Liliana Gomez of Florida, and Bill Patsakos of New York, both parents of children with hemophilia, who have been to Puerto Rico at least twice (Lily is there right now) to gather information on the families affected, and to bring supplies. They’ve also been instrumental in helping us to form a plan on how to get funding to these families, like Carlinette.

Carlinette Aquino Monserrate is the mother of Yensen Yahir Garcia-Aquino, age 7, and Kyanzel Derich Alicea-Aquino, age  22 months. Carlinette, a single mom, endured the hurricane alone with her two children. 
“The hurricane winds were very strong and loud, and my children were all very scared,” she told Lily. “Water kept coming in through all the windows and through the roof for many long, eternal hours. I kept peeking through the window. It was horrifying to see as the wind would actually lift up the car! I was so scared that the wind would flip it or throw it against the house.”
Carlinette says she will never forget the loud crashing noises against the house from all the flying debris. “It was a nightmare, but we feel blessed to be alive.”Like most families, she lost most of her furniture and the leaking roof has ruined the few items she had left. “I worry day to day about getting milk for the kids,” she shared. “It’s very hard to find ice.” Carlinette is struggling without a job and just trying to manage this situation. “I know I’m not alone and want to thank you for remembering us and coming out here to help us. We continue to be blessed with your help, our treatment center and the help we now know is coming to us through the foundation and our own community.” 

How can you help families like Carlinette’s? Hemophilia Federation of America, in conjunction with NHF, Coalition of Hemophilia B, Hemophilia Alliance and many others, have jointly developed an excellent plan to gather funds from our community, and then distribute funds directly to families through HFA’s disaster relief fund, in a campaign called Together We Care. This program ensures that funds will be used to rebuild homes and provide emergency assistance. All donations will be tracked, and the success stories will be documented and shared in the near future. Please consider donating and visit here for more information!

A very happy family

 Hemophilia Federation of America, in conjunction with NHF, Coalition of Hemophilia B, Hemophilia Alliance and many others, have jointly developed an excellent plan to gather funds from our community, and then distribute funds directly to families through HFA’s disaster relief fund, in a campaign called Together We Care. This program ensures that funds will be used to rebuild homes and provide emergency assistance. All donations will be tracked, and the success stories will be documented and shared in the near future. Please consider donating and visit here for more information!


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