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Tuesday, May 17, 2011

Fanconi at the Forefront of the Medical Frontlines

Below is the text of a speech I gave on Sunday at the annual Fanconi Canada fundraising dinner. It was so wonderful to meet children who have benefited directly from the incredible work of Fanconi Canada and the Fanconi Anemia Research Fund. Read below to better understand the impact of research into Fanconi on the lives of hundreds of thousands of people around the world.

My name is Laurie Strongin. I’m the author of a book called “Saving Henry” and the Founder and Executive Director of the Hope for Henry Foundation, a nonprofit based in Washington, DC that makes life better for kids with cancer and other life-threatening illnesses. I’m also the mom of a little boy named Henry who was born in October 1995 and was diagnosed shortly thereafter with Fanconi anemia, a disease that is known to few, but one that I imagine all of you in this room are familiar with. For those who aren’t, it’s a rare disease – as in it affects only 1,000 people worldwide – that causes birth defects, often requires a bone marrow transplant, predisposes people to cancer, and as of yet has alluded a cure.

I want to start by thanking Annette Waxberg and Lorne Shelson – and Fanconi Canada – for hosting such a special event and inviting me to be part of it.

I am so honored to be here, particularly because of the personal connection I have to Fanconi and to the Shelsons who my husband Allen Goldberg and I met many years ago right as we were beginning to understand the challenges before us. Needless to say, it was a blessing to become friends with another family that was hopeful, determined, and loving. It’s been about 15 years since we met and I remain grateful for their friendship.

I remember back when Henry was first diagnosed and we first received our “Handbook” from the Fanconi Anemia Research Fund. The handbook provided critical information about the disease and potential treatments, and it featured a list of everyone in the medical profession who was engaged in research toward improved treatments and an eventual cure.

I was struck by a cartoon in the book. As I recall, it had a doctor sitting behind a desk speaking to a patient. The doctor said something like, “Your problem, I’m afraid, is that you have a disease that no one famous has yet.” The point was that the big challenge associated with a rare disease like Fanconi is that because only a small population is directly affected, it can be extremely difficult, if not impossible, to attract any attention or resources, placing a cure far out of reach.

It turns out that Fanconi didn’t need a celebrity. Why? Because it had families like the Waxberg/Shelson’s. And the Frohnmayer’s whose daughter Amy spoke at this event last year. And mine. And many others who I am sure are represented here or are otherwise busy encouraging doctors to unlock the mysteries behind the disease; or lobbying politicians to devote resources toward research and a cure; or holding garage sales, or lemonade stands, or golf tournaments to raise money.

The bottom line is that the Fanconi community is made up of one highly motivated group of people.

So here’s what happens when you have the kind of people I’ve just described. They raise money and attract the world’s best doctors. And these prominent physicians make amazing medical discoveries that twist the fates not only of people like Aaron Shelson and my son Henry, but of countless others with rare diseases like Diamond-Blackfan anemia and far more common ones like leukemia and even breast cancer. All these patients have you to thank for saving their lives. Your support has helped save lives.

Let me explain.

I’m sure you’ve all heard of cord blood transplants. That’s when doctors use the stem cells from a newborn baby’s umbilical cord blood – instead of throwing them away as medical waste – to transplant to an ill person and save their life.

The very first cord blood transplant ever was performed in 1988. The beneficiary was a six-year-old boy suffering from Fanconi anemia. The patient had a healthy, HLA-identical sibling making her the ideal stem cell donor. Her cord blood was collected at birth, frozen, and used after thawing for transplantation. The patient had no complications and is alive and well 20 years later.

Today there are more than 400,000 cord blood units available for transplantation in more than 100 cord blood banks around the world. 6,000 people have benefitted from the procedure that found its start with Fanconi anemia.

Because of the risk that the parents of that six year-old boy were willing to take, and the brilliance of the group of doctors 6,000 patients (brothers, sisters, mothers, fathers, children – just think of that number!) with previously unsurvive-able diseases like Fanconi anemia and leukemia have been given a chance to live and thrive.

It’s astonishing that a rare disease like Fanconi – something that affects about 1,000 people worldwide – is acknowledged as the pioneering first in cord blood transplantation.

Fanconi’s status as a disease on the forefront of the medical frontier did not end with cord blood transplantation.

Fanconi anemia is also the disease that unlocked doctors’ ability to ensure that couples who carry the gene for a fatal childhood disease will never give birth to a child born to die young.

But it doesn’t stop there. Working with Fanconi families, these doctors also figured out how to guarantee that in addition to giving birth to only healthy babies, the families could also have a baby who was a perfect HLA match – or ideal stem cell donor – for an existing child in need of a transplant.

The reason that Lorne and Annette asked me to speak tonight is because my family was the one that doctors worked with to perfect this very procedure.

The procedure I’m talking about is called Preimplantation Genetic Diagnosis or PGD. It sounds complicated so I’ll attempt to simplify by telling you my story.

Like many couples, my husband and I met, fell in love, got married, and a couple years later, I got pregnant. It never occurred to us that we’d have anything but a healthy baby.

On October 25, 1995, we gave birth to our first child, a beautiful little boy we named Henry. Henry had dark brown eyes, brown hair, two delicious dimples and a fatal disease that we had never heard of, Fanconi anemia.

With that diagnosis, we learned that Henry would need to have a bone marrow transplant by the time he was five years old, or before he reached kindergarten. And if that wasn’t scary enough, we learned that the bone marrow transplant survival rates for kids with Fanconi who did not have perfectly-matched siblings were frighteningly low. In other words, Henry was likely to die before he learned to read, climb a tree, or fall in love.


Unless we had another baby who was free of Fanconi and also was a perfect HLA match to Henry and therefore the ideal donor. In 1995 when we were taking in all of this information, the only way to have a healthy baby who was a perfect match was luck.

A roll of the dice. With life-or-death stakes.

As you can imagine, learning that our baby was likely to die young was terrifying. So much so that it could have crushed us. It could have made us feel powerless.

But instead, it gave us a sense of purpose. It energized us. Instead of accepting Henry’s fate, we vowed to change it. Instead of taking Henry’s life for granted, we saw it as a precious gift. Instead of giving in, we were determined to live everyday to its fullest and to have a great life.

And we did just that.

At the same time that we were making the most out of every day, my husband Allen and I were also fighting as hard as we could to save Henry’s life. We desperately searched for someone in the medical world who would join us in our quest to save Henry.

In April 1996, when Henry was five months old, our efforts paid off. We got a call from one of the many doctors we had met with, asking if we would be interested in being the first couple in the world to knowingly get pregnant with a baby who would be free of Fanconi and who could save Henry’s life.

What do you think we said?

Sign us up.

We needed to wait a few months because we were pregnant with our second child – now a gorgeous 14 year-old boy named Jack. As soon as we had our baby, we would give it a try.

And try we did.

Together with our doctors, we traveled to the far reaches of the medical frontier and tried new procedures that had never been done before. Ever. Because without them, Henry didn’t have a chance. It was hard to do something that no one else had ever done before. When things didn’t work out the way we hoped they would, we tried again. And again. And again. We never gave up.

Nine times.

Over a three-year period, we tried PGD nine times. Nine times we went through a cycle of in vitro fertilization (which is far more complicated and painful than the way we got pregnant with Henry and Jack and eventually our youngest son Joe). Nine times we waited as the doctors performed genetic testing on a single cell from each of the embryos we created. Nine times we waited, desperate for the test results to tell us that Henry would live and that we could have another healthy baby without having to endure another first trimester, terrified.

Nine times we waited and waited, as one attempt failed after another.

Nine times the doctors puzzled over our failures and tinkered with the technology, refusing to give up on us. On Henry.

Henry’s blood counts fell.

The stakes got higher.

And the doctors worked harder.

Although they were not able to save Henry, who died in 2002, when he was just seven years-old, they have been able to save the lives of other children because of what they learned working with Henry.

Medical miracles rarely work for the families who take the risks and try first. But these miracles would never be achieved without courageous, determined, hopeful, loving families like those in the Fanconi community. As one father whose son was saved through PGD said to me, “Your determination to succeed gave us inspiration. Henry did not die in vain. Henry is a pioneer who has and is saving lives every day. Without a doubt you and your son helped save our son’s life.”

Today PGD is routinely used not only to save the life of children with Fanconi, but to save hundreds of children with other diseases.

One year ago, Hyperion published my book, Saving Henry, which chronicles our family’s journey to the outskirts of medicine where a small group of brilliant doctors – and determined Fanconi families – achieved a dream.

Your support for Fanconi anemia will fund critical research that saves the lives not only of these special Fanconi kids, but countless others who benefit from the pioneering spirit of this special group of people.

Thank you.

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