“For me, medicine is not just a profession,” says Dr. Pramod K. Mistry, MBBS, PhD, MA, MD. “It’s a lifelong apprenticeship in seeing the person behind the disease. Each patient teaches me something I could never learn in a textbook.”

Dr. Mistry is a Professor of Medicine and Pediatrics at Yale School of Medicine and directs the Yale Gaucher Disease Treatment Center. He is internationally recognized for his expertise in Gaucher disease. His research explores the genes that influence disease progression.

Dr. Mistry has built his career on asking questions in the clinic and pursuing answers in the lab. He returns with insights that improve care and quality of life.

How Does Gaucher Disease Affect Teenagers Differently?

The biology of growth and the psychology of adolescence intersect powerfully in teens with Gaucher disease (GD). Dr. Mistry explains that rapid growth during puberty demands enormous metabolic energy, just like GD.

Patients with type 1 Gaucher disease often have a higher resting metabolic rate than teenagers without Gaucher. This is likely due to immune system dysregulation and chronic inflammation. As a result, teenagers may experience:

• Bone pain: Gaucher cells enter the bone marrow and compress blood vessels.
• Fatigue: Teens with Gaucher are at risk for anemia.
• Distended abdomen: The spleen and liver can become enlarged.

Teenagers with Gaucher Need Different Care Than Adults

Dr. Mistry shares that teenagers experience symptoms differently than adults do. They’re more likely to react emotionally rather than rationally to discomfort and fatigue.

“We should think as much about the patient as the disease,” says Dr. Mistry. “It’s important to empower young patients. I talk to them about college, sports, and someday having a family. We remind them that treatment will help them do everything their heart desires.”

How to Help Teens with Gaucher Navigate Their Emotions

Patients with Gaucher disease can live healthy, vibrant lives, but it’s not always easy. “Adolescents can be insensitive,” says Dr. Mistry. “Parents and doctors should encourage teenagers to talk about how they are treated by their peers.”

Often, just voicing what they are going through can be helpful. Unlike other diseases with visible symptoms, people with GD can feel they are battling silently. Knowing that others see and understand their hardships can alleviate that burden for teens.

Some emotional side effects adolescents deal with include:

• Depression and anxiety: Studies find that up to 41% of people with Gaucher experience psychiatric disorders, followed by generalized anxiety disorder.
• Delayed puberty: Some teenagers may feel insecure if they are smaller than their peers or develop differently.
• Treatment burden: Students can feel embarrassed by their port during physical education class. Others experience stress and anxiety around infusions.

“I truly believe that we must stand beside our patients as fellow travelers in their journey through life. Part of medicine goes beyond biology to understand how disease shapes every dimension of a patient’s life,” says Dr. Mistry.

For some of Dr. Mistry’s patients, sharing their emotional journeys opened up a potential new treatment option for Gaucher disease.

SRT Offers Hope for Teens with GD

Enzyme replacement therapy (ERT) is usually the first-line treatment for adolescents with GD. Teens typically receive ERT every two weeks through a one-hour IV infusion at a clinic or at home. Sometimes, doctors may place a port for easier access.

“I’ve had several adolescents completely isolated by post-traumatic stress disorder (PTSD) from IV infusions,” says Dr. Mistry. “Some kids have been on ERT since their first week of life and adapt well. But others are traumatized.”

Dr. Mistry explains that PTSD affects a teenager’s learning, growth, emotional health, and family life. When a teenager experiences this level of stress, it doesn’t just happen on infusion days. Their entire nervous system stays activated, which can limit learning and social interactions. That’s why substrate reduction therapy (SRT) is a promising alternative—it can give teens an effective treatment that is easier to tolerate than ERT.

Substrate reduction therapy: an alternative to ERT

Instead of replacing the missing enzyme (like ERT does), SRT reduces the production of glucocerebroside—the fatty substance that accumulates in people with Gaucher disease. Slowing down how much substrate is created helps balance the reduced ability to break it down. SRT is an oral medication, so no need for infusions.

Dr. Mistry evaluated 14 children with GD who switched to oral eliglustat from IV therapy. All patients showed significant disease improvements with minimal side effects and better quality of life.

Teens Can Live Well with Gaucher Disease

Dr. Mistry’s three decades treating Gaucher disease have reinforced a core belief: Exceptional care extends far beyond clinical protocols. It requires understanding about the patient’s journey and commitment to relationships that can span a lifetime.

His advice includes:

• Connect emotionally: The doctor-patient relationship is key to navigating compliance and treatment challenges.
• Consider SRT: SRT has demonstrated safety and efficacy for teenagers who can’t tolerate ERT.
• Practice compassion: Patients may have anxiety about their condition and treatment, so offer a sensitive, respectful environment where they can voice their concerns.
• Prioritize bone health: Registry studies show long-term bone health requires attention, particularly peak bone mass.
• Treat early: Many children who receive early treatment achieve typical development and have families. Dr. Mistry has followed some patients for 30 years—from babies to married adults.

How the National Gaucher Foundation Can Help

If you or a loved one lives with Gaucher disease, the National Gaucher Foundation is here for your family. We offer resources to optimize your health with Gaucher disease and connect you with the support you need.

Sources

• Doneda D, Lopes AL, Oliveira AR, Netto CB, Moulin CC, Schwartz IV. Gaucher disease type I: assessment of basal metabolic rate in patients from southern Brazil. Blood Cells Mol Dis. 2011;46(1):42-46.
• Packman W, Crosbie TW, Behnken M, Eudy K, Packman S. Living with Gaucher disease: Emotional health, psychosocial needs and concerns of individuals with Gaucher disease. Am J Med Genet A. 2010;152A(8):2002-2010.
• Ain NU, Saith A, Ruan A, Yang R, Burton A, Mistry PK. Eliglustat substrate reduction therapy in children with Gaucher disease type 1. Front Pediatr. 2025;13:1543136. Published 2025 Feb 27.