Laurie Kelley

Hemophilia in the Land of Fire and Ice

Laurie Kelley August 21, 2022

We’re noticing a lot of news about gene therapy lately, with promises it will soon be commercially available for those with hemophilia B. We will see! In the meantime, genetic testing has been on my mind, especially as I flew to Iceland this past weekend. Iceland has been called the perfect genetic laboratory, but not because it has a population of little more than 366,000 people. Or, as one handsome Icelandic man told me last night in a pub, “Can you imagine dating at my age in such a small population?”

Iceland was settled by a small group of Norwegians around AD 900. The country was isolated for the next thousand years and has experienced little immigration. And the Icelanders kept excellent genealogies of their families, meaning we can trace back family lineages for, in some cases, thousands of years. Altogether, Icelanders have a relatively low level of genetic diversity, making it easier for scientists to detect genetic markers. I found one source that said two Icelandic families with a history of breast cancer can be traced back to a common ancestor born in 1711!

Fagradalsfjall volcano erupting this weekend

A third or more of the population has donated a DNA sample, to track familiar connections. This is important if you have a genetic disorder or disease, and want to get married. And if you don’t want to marry a relative!

With a population of only 366,000, there are 67 known people with hemophilia A—of which 47 are mild! Only 13 are severe. There is only one person known to have hemophilia B. Hard to imagine a country with so few people with hemophilia. The good news is that of course, they are well known, registered with the treatment center, and all receive excellent treatment. Iceland has socialized medicine (but don’t forget a 31-46% income tax rate).

From the Icelandic Hemophilia Society website, all people with severe hemophilia receive prophylactic home therapy. Others receive on-demand treatment. Recombinant factors have been used for hemophilia A and B since 1998, and since then, plasma-derived has not been used.

The Icelandic Hemophilia Society was established in 1977, to guard the interests of people with hemophilia, and to provide information and consultation to patients and their families. The board consists of 5 members, elected every second year except the chairman, who is elected every year. The current chairman is Birgir Orn Steingrimsson. All board members and staff work as volunteers.

The Icelandic Hemophilia Society is a member of the World Federation of Hemophilia, and the European Hemophilia Consortium.

Iceland is an amazingly beautiful country of cold and strong winds, though with a rather mild climate year round. It’s a land of volcanos, and I was fortunate enough to see the

Fagradalsfjall volcano as it was erupting. No volcanic eruption had occurred for 815 years on the Reykjanes Peninsula—where Fagradalsfjall is located—until March 19, 2021 when a vent opened in Geldingadalir, south of the Fagradalsfjall mountain. Lava flowed freely and dramatically until September 18, 2021. This eruption is considered unique among the volcanoes monitored in Iceland.

I arrived this past Friday, August 18, at 4 am, while my friends back in Boston slept. With me was Trista Blanchard, a hemophilia colleague who I had only met once before at an NHF event several years ago, and who, two days later, became a dear friend. By 6 am, Trista and I were hiking up 4.5 miles to the volcano. We sat on the damp ground, marveling at the volcano’s ferocity, its expression. It roared as it spewed out molten rocks. This is what the beginning of earth must have been like, and we both felt like momentary and forgettable blips in the history of the planet. But happy blips: we felt privileged to witness this stunning geological upheaval. All around us for miles was undulating hardened black basalt, the result of a lava flow that had happened only two weeks ago.

We returned later that day to Reykivik, the capital, and I thought about that one lone Icelander with hemophilia B, whoever he is. He’ll make history, hopefully in the next couple of years, as being the first person in Iceland to receive gene therapy, and hopefully be “cured,” whatever that will mean practically for hemophilia, and for him.

Back in the Saddle Again

Laurie Kelley August 14, 2022

It was a beautiful, crisp summer day on the North Shore of Boston to get back in the saddle again—the bike saddle! Part 2 of Wheels for the World today showcased a thrilling mountain bike ride through Willowdale State Park in historic Ipswich, Massachusetts: historic for hemophilia, for it was here in the 1600s that the first family in the New World with hemophilia was discovered. The Appleton family farm, owned by Oliver Appleton, was just down the road from the entrance to the state park, where we would ride for two hours, through fields, dodging trees, skidding over gnarly roots, and bumping over rocks.

Well, some of us did. We had a small group of about 10 riders, including me and Doug. Also present were: Chris Bombardier, Save One Life’s executive director; AG, mom of a child with hemophilia; Justin, a person with hemophilia who came all the way from Florida to ride! Rich Vogel, long-time friend and community member, from New Jersey; and more! Our goal was to ride, have fun, honor Barry Haarde’s legacy, and raise money for Save One Life.

Oh, and complete a nine-mile route through some really exciting and wild woods! Problem for us was that I have not been on a bike in 18 months, and have not mountain-biked in about 5 years. Doug has only ever been once! I bought him a new bike for his birthday this past January, but turns out it was a hybrid and not a real mountain bike. He and I suffered through about 2 miles before bailing. And I had one crash when I couldn’t stay on the trail after bolting over some rocks and came crashing down a hillside. Luckily, no one was around to see that, only the bruises and scrapes told the story. Justin had a better story: he broke his bike, but kept on riding with no seat!

The group had a great time, and it was wonderful to be with our community members again. After the ride, we gathered at the True North Brewery, where we stayed for a few hours, swapping stories of raising a child with hemophilia, thoughts about new treatments, joint pains and back aches!

Hemophilia has brought together so many great people, all focused on a great cause: helping children with hemophilia in poverty in developing countries. Getting back in the saddle, even with a few mishaps, was worth it all.

There’s still time, until October 1, to participate in Wheels for the World! Go to the Save One Life website to learn more. Get back in the saddle!

The Supreme Court Decision and Genetic Testing

Laurie Kelley August 7, 2022

The recent decision by the Supreme Court regarding abortion rights had me thinking about genetic testing and hemophilia. I recall that when I decided to have another child, following my first who had hemophilia, doctors were pushing for genetic testing. Why? I asked. We had already decided that if a sonogram showed a boy, we would do another C-section. Otherwise, let nature take its course. The doctor kept offering genetic services, but… when I suggested that he wanted the test in case a parent might want an abortion if genetic tests showed hemophilia? The topic not everyone wants to discuss directly? And that would not happen in my case regardless? The conversation ended, happily on both sides.

I recall a case many years ago of a British couple who sued their doctor, because he told them that their unborn child would not have hemophilia. And he indeed did. The implication was that despite having a beautiful baby boy, they were arguing that they would have aborted the fetus, had they known he had hemophilia. So they wanted monetary compensation for bringing their baby with hemophilia to term.

Genetic testing, abortion… topics peppered with landmines of emotion, legality, and belief systems.

But the bottom line is: Do you wonder or know if you or your daughter might be a carrier for a genetic mutation that causes hemophilia? This topic also comes up in Facebook groups from time to time. Supreme Court aside, it’s a good question to consider.

There’s a chance that a female is a carrier if she is the mother, grandmother, or sister of a biological son, grandson, or brother with hemophilia; or the aunt, cousin, or niece of a male with hemophilia related through her mother. If you or your daughter fits any of these scenarios, you might want to consider genetic testing to determine carrier status. There’s no need in the case of a female born to a male with hemophilia; she is an obligate carrier and will have the gene for hemophilia on one of her X chromosomes.

Genetic testing identifies changes in the normal structures of proteins, genes, and chromosomes. An integral part of genetic testing is the counseling that goes with it, to help patients understand and adapt to medical, psychological, and familial implications of genetics contributing to disease.

Many large health insurance plans cover genetic testing when it’s recommended by a doctor. Often, genetic testing for hemophilia is a covered benefit because learning hemophilia carrier status can impact medical care. Many insurance companies consider genetic testing medically necessary if a person is at risk for inheriting a disease or disorder.

But insurance coverage for genetic testing is inconsistent among health insurance companies, and even within a single company’s plans.

There are pros and cons to genetic testing. It’s essential to consider the risks of not being tested, given chances of being a carrier, as well as the risks of being tested.

Some pros? Knowing carrier status before a medical procedure can help prevent bleeding complications. It’s probably good to test factor levels of females with a family history of hemophilia at as early an age as possible. According to NHF’s Medical and Scientific Advisory Council (MASAC), at least 50% of females who are carriers for hemophilia also have factor levels below 50%, putting them at risk for excessive bleeding during delivery of a baby as well as during a surgery, accident, or menstruation.

It’s also important that your daughter understands the risks of being tested. For privacy reasons, some people choose to pay out-of-pocket for genetic testing so that the testing and results do not appear in their medical record. Ask a genetic counselor about the actual cost of testing before consenting. In 2017, eligible potential carriers could seek carrier testing at no cost through NHF’s “My Life Our Future” program at qualified hemophilia treatment centers.

It can be empowering to know if you’re a carrier of a genetic mutation that causes hemophilia. A woman who knows her risk of passing a bleeding disorder on to her child can better advocate for herself. And for her rights and beliefs—whatever they may be— on a national scale.

We Ride to Remember

Laurie Kelley August 1, 2022

“They shall grow not old, as we that are left grow old: Age shall not weary them, nor the years condemn. At the going down of the sun and in the morning we will remember them.” — Laurence Binyon, British Poet

Wheels for the World in Providence, Rhode Island

They rode in the bright sunshine and heavy heat in Providence, Rhode Island, to remember a special person in the hemophilia community, Barry Haarde, and to raise funds and awareness for those with bleeding disorders in developing countries, who still suffer from untreated bleeding. It was Save One Life’s second annual Wheels for the World in conjunction with New England Hemophilia Association. About 25 riders gathered—one family from Pennsylvania!— to share the joy of riding, and gratitude for having treatment in the US to stop bleeding.

For me it was only my second hemophilia event in over two years to attend! I had just returned from Kilimanjaro, so decided to sit this one out and attend as a volunteer—though there was little to do! The team from NEHA and Save One Life had it all under control.

A special guest was Emily “Weez” Cobb, Barry’s sister, who attended with her husband Billy, to say some words about Barry, and what this ride meant to her. Barry, as most people in the community know, was a person with hemophilia A and HIV, who also had a permanently contracted knee. He created the idea to ride his bicycle across the US to raise awareness for those affected by hemophilia and lack of treatment in developing countries. He also did it to honor the fallen: those with hemophilia who were killed by HIV, from infected blood products and treatment in the late 1970s and early 1980s. Barry would eventually ride six times across the US over six years, raising more than $250,000 for Save One Life.

Sadly, he took his own life in February 2018, which stunned the country. He had overcome hemophilia, HIV and hepatitis C, but not mental health issues. He was beloved by the community, and Wheels for the World honors his character and commitment.

Weez reminded us all how much Barry wanted to show the younger generation what was possible, despite hemophilia and all its complications. She also said how important it is to remember those who are no longer with us. Wheels for the World keeps memories of Barry alive, and continues his cause, for which she and her family are grateful. Weez has known much loss: her two brothers and mother all died within a few years of one another; her 17-year-old daughter Patty died in a car crash; and her first husband died also of HIV, as he also had hemophilia.

Remember those who are gone “helps with the grieving process,” she said. And no matter how many years go by, people still grieve.

This year marks the 10^th Anniversary of Barry’s first ride: over 3,000 miles from coast to coast.

At the end of this ride, which was about 28 miles, Save One Life and NEHA provided food and drink at the Narragansett Pub, where we had some surprise news for everyone, especially the Cobb family: my boyfriend, Doug Mildram, has volunteered to re-create Barry’s first ride, from Portland, Oregon to Portland, Maine, in 2023. Seven weeks of riding, at 100 miles per day. Not many people could accept this challenge, but Doug has been training all his life. Doug had met Barry, and they discovered they both worked at Hewlett Packard, and both love cycling. Barry inspired Doug, as he inspired me, and inspired everyone he met.

We hope our community will welcome Doug along the route from coast to coast with open arms as they did Barry, who we will honor with this ride, and to continue to raise funds for families in poverty overseas.

Thank you NEHA and Save One Life for an outstanding event! Thanks to Weez and Billy for flying up to join us—see you next year, when Doug comes riding into Portland, Maine, to celebrate another Wheels for the World, and to remember our beloved Barry.

Will Insurance Cover Gene Therapy?

Laurie Kelley July 24, 2022

There’s been a lot of news lately about gene therapy. Just Google “hemophilia and gene therapy” to catch up on what’s happening.

A big concern is how will payers react to gene therapy when it does become available, given how much they try to contain costs?

We covered this topic in a previous issue of PEN’s Insurance Pulse (now discontinued) and it might be good to revisit

First, payers (insurance companies, state Medicaid programs, self-insured employers, and others) will probably pay for new therapies, including gene therapy, but the payers will very likely have prior authorization criteria that define which patients can access these products.

Second, new therapies probably won’t be available immediately after FDA approval. Why? Gene therapy products will probably be expensive. Payers will want time to understand how they work and for whom they will be appropriate. For example, one gene therapy clinical trial excludes patients with inhibitors. Another excludes patients with HIV. If a product hasn’t been tested in a segment of patients, then payers and physicians probably won’t use it for those patients; it’s a matter of safety.

Now, let’s go back to cost: Payers don’t have endless buckets of money. A commercial insurance company’s “income” is made up of the monthly premiums, copays, coinsurances, and deductibles that we pay. Its “expenses” are the medical claims paid to providers (including doctors, hospitals, pharmacies, and labs) and everything else it takes to run the business (employee salaries, building rent, and so on).

What does this mean to our community? Everyone who is eligible for any expensive therapy may not be able to get it immediately.

What can you do if they want to receive a new therapy?

• Talk to your hemophilia treatment center (HTC) team or hematologist. They can help you understand if a particular therapy might work for you.

• If you and your medical team decide to move forward, you’ll have to justify to your payer why this is the right therapy for you. This takes time, and your insurance company may or may not approve it.

• Be prepared to help your medical team make the case for you. That might include extra tests, accurate factor logs, and other documentation.

Remember that insurance companies are not the enemy! To get the best care, you and your healthcare team need to work with them, not against them.

National Hemophilia Foundation and Hemophilia Federation are good places to turn to for information on educating payers on bleeding disorders and also to enhance the relationship between these payers and HTCs. As a community, we need to be responsible stewards of healthcare dollars while getting excellent care. Fortunately, every advanced therapy for bleeding disorders has eventually been covered by most insurance plans–let’s hope this happens fro gene therapy across the board for all.