Research, Treatments for Pompe Disease Span Three Decades

Author: Duke Health

Hello? Hello? My mom might say this is too loud, but I don't think so. She was driving last Friday on the way to Cincinnati on the snow white [INAUDIBLE eve]. Haley's very, the words I would use is social, talkative, which is part of social. [SOUND] [LAUGH] She does whatever other teen, tween [LAUGH] girls like to do. People, I think, don't expect when they see her doing.

Maybe they don't think they can talk to her. And once they do, I think they're very surprised of how social she is and how smart she is. I'm at the Sam Hunt concert in Raleigh, North Carolina. She's definitely one of a kind and keeps people on their toes.

[LAUGH] Keeps mom on her toes? Keeps everybody on their toes. [LAUGH] Hi, I'm Crystal. Hi, I'm [INAUDIBLE], I'm eight years old. And we've been going to Duke Children's Hospital for the last eight years.

Haley was diagnosed when she was about six months old with Pompe disease, which is a rare muscular disease that affects all her muscles. The first and only life saving treatment for the disease was developed by a group of researchers at Duke University Medical Center. Without the therapy called Myozyme, babies with Pompe disease typically die around their first birthday. Since the approval of enzyme replacement therapy with Myozyme, or Lumizyme as we call it in the United States, it's been transformative for individuals with Pompe disease to a point where many of them can sit. They can stand, they can walk, they can run, they can go to school. We have our first babies that were treated now heading to college. However, there are still issues that persist.

Research, Treatments for Pompe Disease Span Three Decades

When Haley was diagnosed, she was about six, six and a half months. Her heart was severely enlarged, and a couple more weeks, she probably could have passed away. Her state in Virginia or in North Carolina, they don't do a newborn screening for Pompe disease.

Had the newborn screening been done, we would have known from the beginning and could've prevented the heart complications that came. As she grew from this little six-month old now to a thriving preteen, Haley has inspired may of us to think of the importance of newborn screening. Because we've seen it, that if you sat a child in therapy in the first week of life versus even the first month of life, we've seen differences in outcome. And the lessons learned from Pompe have translated to other rare diseases as well. So, we have a lot more work to do.

Keep going, Hailey, almost. Keep going, you're doing great. Come on Hailey, you can do it. Pass the test. Keep going and stop. [APPLAUSE] Awesome, high five.

You got 92%, very good. I know it's a devastating day to hear it and to find out these life expectancies and how severe it is. Definitely, you got to through that grieving process. But with everyday, kinda research that's being done. All the technology and the new treatments and the current treatments. And so you've gotta just say, well, I'm gonna do the best that I can do and try to keep them as healthy as I can. And just do what you gotta do. If you can change someone's life for the better, that's why you enter the field of medicine.

And I always take the words of my mentor. Where there's passion, there's always a way forward. And I think the passion and the caring and wanting to make a difference, that has allowed us to move the needle and move the field ahead. Hair fix.

[LAUGH] Makeup. Yeah, I'll be in middle school, I can't believe it. I feel like I just finished like the second or third grade, and now, I'm going into middle school. So what would you tell other kids who might be in the same place that you are? Just be happy and do the best you can in everything. And don't act upset about your disease and what you're not able to do.

Just live with your life, time flies by very fast. I'm really looking forward to see what the future holds.

Research, Treatments for Pompe Disease Span Three Decades

Hello? Hello? My mom might say this is too loud, but I don't think so. She was driving last Friday on the way to Cincinnati on the snow white [INAUDIBLE eve]. Haley's very,…

By: Duke Health