Who Makes the Decision?

by: Derek L. Markley

It has been more than eight years since St. Jude Children’s Research Hospital, University College London, and the Royal Free Hospital began a clinical trial using gene therapy to treat people with hemophilia B.

That same year, our family welcomed a new baby, Bubba, who has severe hemophilia B. We had recently located to central Illinois from east Tennessee when I accepted a position with Eastern Illinois University. Bringing a new child into the world is a wonderful and stressful time for any family. As parents who had no experience with bleeding disorders, my wife and I were wholly unprepared for a hemophilia diagnosis.

Six months after Bubba was born, I was headed to lunch with a friend after meetings in the state capitol building. I can still tell you exactly where I was standing when my friend handed me her phone and asked if I’d seen the New York Times article about gene therapy and hemophilia B.

Fast forward a few years, and we again relocated, this time to Tupelo, Mississippi. We were very fortunate to become patients at St. Jude. Little did we know that Bubba’s physician would be one of the primary investigators in the gene therapy clinical trial. All of a sudden, the world of gene therapy was thrust directly in front of us.

We are now in a position, like many other hemophilia families, where the reality of a cure for hemophilia seems within reach. Presently, three phase III trials are beginning to test the efficacy of gene therapy in treating hemophilia B. Clinical research does not move quickly, but advancements in gene therapy over the past eight years have been amazing. The FDA has released new guidelines regarding gene therapy development, and funding for these ventures is in overdrive.

If gene therapy treatment becomes a reality, I’m forced to ask these questions: Is this a decision we can make for our son? Do the parents get to decide? How do we talk to our son about the risks and rewards of such a treatment? Bubba is only eight now, but it seems wise to begin thinking about how we’d handle this situation. Of course, the question is moot if insurers, treatment providers, and pharmaceutical companies can’t agree on a feasible reimbursement strategy. There are a lot of variables at play, yet the advancement of gene therapy treatment demands that Bubba’s mother and I begin thinking about how we will make decisions if a gene therapy treatment becomes available for our son.

It’s amazing that, of all the health conditions in our world, science and medicine have combined to put a treatment for our son’s type of hemophilia at the forefront of gene therapy.

Bubba is a very active kid. My wife describes him as “all boy.” His condition has done nothing to slow him down. Bumps, bruises, cuts, or scrapes, he weathers them all and refuses to be limited by his uncooperative blood.

We’re reaching a time where Bubba’s questions about hemophilia have become more mature, requiring us to be more introspective when talking with him. The greatest question we face is how do we determine his role in a decision about treatment if gene therapy becomes a reality? It is his life, and, like all parents, we hope that he’ll be around for a long time after we’re gone.

Bubba views infusions as an inconvenience. We know he secretly wants to play quarterback or wide receiver. He knows that hemophilia makes him different from his friends. Different isn’t always easy for kids to understand or accept.

The problem is that his mother and I have more complex questions, not that Bubba’s questions are unimportant. What if our government decides to once again unfairly punish people with pre-existing conditions? What if Bubba is in a serious accident? What if he develops a target joint? There are a million tough questions. What makes the situation even harder is that these questions are about things over which we have little or no control. There are far more questions than answers.

The best answer we have right now is that we’re thankful for the treatment presently available for our son and the prospect of what some are beginning to call a cure. There are too many parents with children afflicted by conditions that have no available, effective treatments. When we picked Bubba up after his first bleeding disorder camp last summer, he told us that some of the kids said he was lucky because he only infused once a week. I think those interactions gave him his first insight into the fact that living with hemophilia is not the same for everyone.

Science can do amazing things. As a species, we’re quite ingenious at times. I have no doubt that hemophilia will cease to exist one day, but I have no idea when that day will come. As parents, we can only put our son’s best interests first, stay informed about medical advances, and trust that our team at St. Jude will continue to help us make the best decisions based on the options available.

Bubba won’t want to hear it, but his mom isn’t going to let him play football anyway.

Derek lives in Saltillo, Mississippi, with his wife Ashley and their children Abbey and Bubba. He is the executive director of two University of Mississippi regional campuses and an assistant professor in the School of Education. Ashley is a fifth-grade math teacher in the Tupelo Public School District. Derek is the author of The Bubba Factor, available on Amazon in Kindle format and in paperback.

©LA Kelley Communications, Inc. Reprinted with permission.

 Publication: PEN 2.19

Column: As I See It