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Paul Orchard: We need to push the envelope for patients with rare genetic diseases

Paul Orchard, MD, leads a medical program known internationally for advancing the care of adrenoleukodystrophy (ALD) and other rare genetic diseases.
Paul Orchard, MD, is driven to make a difference for children with adrenoleukodystrophy (ALD) and other rare genetic diseases.

Paul Orchard, MD, is driven to make a difference for children with rare genetic diseases.

Orchard is the medical director for the University of Minnesota Health Inherited Metabolic and Storage Disease Transplantation Program. The program, based at the Pediatric Specialty Care Journey Clinic, is routinely recognized as one of the most experienced in the country for treating diseases like adrenoleukodystrophy (ALD). ALD is a severe genetic disease that affects boys and men. The disease affects the brain in approximately 40 percent of cases, leading to permanent disability and eventually death.

Orchard and his colleagues have gained a reputation for treating some of the most challenging pediatric ALD cases—young patients that would typically be turned away elsewhere.

“Most of the kids that we see wouldn’t receive transplants at other places because they don’t meet the criteria for a good outcome,” he said. “That’s not moving the field forward; that’s not acceptable.”

We talked with Orchard about his passion for treating ALD, what he finds meaningful in his work and how newborn screening for ALD is a major step forward in improving outcomes.

Can you tell us more about the University of Minnesota Health adrenoleukodystrophy (ALD) treatment program?

Inherited metabolic diseases—such as adrenoleukodystrophy (ALD)—are an afterthought for many medical systems, but at the University of Minnesota we have focused on developing our novel treatment approaches and a better understanding of the disorder. The University of Minnesota has been a pioneer in the use of blood stem cell transplants—also known as bone marrow transplants or umbilical cord blood transplants—to treat rare, inherited disorders. We actually have more experience using blood stem cell transplantation to treat the cerebral form of ALD than any other center in the world. People come here from all over the country and the world because they recognize our expertise.

Learn more about pediatric bone marrow transplant services at University of Minnesota Masonic Children’s Hospital.

What’s most meaningful in your work?

Having patients come back years after transplant and seeing that they’re happy, healthy and engaged in the world around them. Without medical care, some of them wouldn’t be with us—and knowing that is very powerful and gratifying. ALD is a very challenging disease. Not every outcome is good, but we have a reputation for doing everything we can for our patients and their families.

12-year-old Nick received a blood stem cell transplant to treat ALD. Read his story.

You’re known for taking a unique approach to treating ALD. Can you describe your care philosophy?

Often, a stem cell transplant becomes riskier for patients as the disease progresses. Generally, by the time someone experiences ALD symptoms, most places won’t consider doing a transplant because the disease has become advanced and the outcomes are poor. That’s not acceptable. If we turn them away, these kids go home and they die. In our program, we’re focused on finding alternatives. We want to know: What other things can we do? How can we modify a stem cell transplant procedure to ensure its success?

How can we continue to improve care for ALD and other genetic diseases at the University of Minnesota?

As a group that’s focused on these diseases and committed to the care of these kids and their families, I think we’re obligated to push the envelope in terms of what we can offer them. We’re committed to working with other specialties throughout the University of Minnesota Health system and even outside our institution to find the expertise and skills to advance our care. I consider a big part of my job to be the development of new multidisciplinary care strategies.

What’s one of the biggest changes coming for the treatment of ALD?

States are starting to implement newborn screening for ALD, which will improve our ability to identify at-risk patients early and take the appropriate follow-up action. Instead of boys being diagnosed late in the progression of the disease—when outcomes are likely to be poor—they can now be diagnosed within a week or two of birth. This means doctors can monitor them more closely and can intervene earlier, before the disease has the opportunity to progress. That’s going to save lives and give more patients a chance to have an exceptional outcome.