The 20 Best Pompe Disease Doctors Near Me in Boston, MA

Find the Top Pompe Disease Experts and Specialists

The 20 Best Pompe Disease Doctors near Boston, MA

Last Updated: 02/22/2026

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MediFind found 39 doctor with experience in Pompe Disease near Boston, MA. Of these, 36 are Experienced and 3 are Advanced.

Location
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39 providers found
    Seward B. Rutkove
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    BIDMC Department Of Neurology

    330 Brookline Avenue, East/Shapiro 8, 
    Boston, MA 
     (2.7 miles away)
    Languages Spoken:
    English

    Seward Rutkove is a Neurologist in Boston, Massachusetts. Dr. Rutkove is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Orchiectomy.

    Steve Colan
    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Steve Colan is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Colan is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Hypertrophic Cardiomyopathy (HCM), Cardiomyopathy, Dilated Cardiomyopathy (DCM), Heart Transplant, and Heart Valve Repair.

    Richard B. Parad
    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Brigham And Women's Hospital, Department Of Pediatrics

    75 Francis Street, 
    Boston, MA 
     (2.9 miles away)
    Languages Spoken:
    English

    Dr. Parad is an Attending Neonatologist and an Associate Professor in Pediatrics at Harvard Medical School. He underwent dual training in Perinatal-Neonatal Medicine and Pediatric Pulmonology at Boston Children's Hospital.He is the Director of the Program in Newborn Genomics. In addition to caring for newborns in the Newborn Intensive Care Unit (NICU), he is a core member of the Growth and Development Unit (GDU) faculty and the Antenatal Consult team. His research focuses on the use of genomic sequencing for screening and diagnosing disorders in the newborn period as well as clinical trials for improving treatment of neonatal lung disorders. Dr. Parad is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Bronchopulmonary Dysplasia, Premature Infant, Menkes Disease, and Necrotizing Enterocolitis.

    Learn about our expert tiers
    Experienced in Pompe Disease
    Intensive Care Medicine
    Experienced in Pompe Disease
    Intensive Care Medicine

    Tufts Medical Center

    800 Washington St, 
    Boston, MA 
     (0.5 miles away)
    Languages Spoken:
    English
    Offers Telehealth

    Nicholas Hill is an Intensive Care Medicine provider in Boston, Massachusetts. Dr. Hill is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pulmonary Hypertension, Pulmonary Veno-Occlusive Disease, Hypersensitivity Pneumonitis, and Idiopathic Pulmonary Fibrosis.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Office

    185 Cambridge St, 
    Boston, MA 
     (0.7 miles away)
    Languages Spoken:
    English

    Kathryn Swoboda is a Neurologist in Boston, Massachusetts. Dr. Swoboda is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Muscle Atrophy, and Alternating Hemiplegia of Childhood.

    Experienced in Pompe Disease
    Pediatric Endocrinology
    Experienced in Pompe Disease
    Pediatric Endocrinology

    Division Of Endocrinology

    333 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Joel Hirschhorn is a Pediatric Endocrinologist in Boston, Massachusetts. Dr. Hirschhorn is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obesity, Short Stature (Growth Disorders), Neurohypophyseal Diabetes Insipidus, and Diabetes Insipidus (DI).

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Children's Hospital Pediatric Associates, Inc

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Amy Kritzer is a Pediatrics provider in Boston, Massachusetts. Dr. Kritzer is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Maternal Hyperphenylalaninemia, Phenylketonuria (PKU), Biotinidase Deficiency, and Mucopolysaccharidosis Type 3A (MPS IIIA, Sanfilippo Syndrome A).

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Boston Childrens Heart Foundation Inc

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Wayne Tworetzky is a Pediatrics provider in Boston, Massachusetts. Dr. Tworetzky is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Hypoplastic Left Heart Syndrome (HLHS), Ebstein's Anomaly, Pulmonary Atresia, and Congenital Heart Disease (CHD).

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Kevin Daly is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Daly is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Congenital Mitral Stenosis, Hypoplastic Left Heart Syndrome (HLHS), Mitral Atresia, and Restrictive Cardiomyopathy (RCM).

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Rebecca Beroukhim is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Beroukhim is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Ebstein's Anomaly, Pulmonary Atresia, Hypoplastic Left Heart Syndrome (HLHS), Myringotomy, and Heart Transplant.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Jami Levine is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Levine is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Marfan Syndrome, Hypoplastic Left Heart Syndrome (HLHS), Mitral Atresia, and Congenital Heart Disease (CHD).

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Daniel Castellanos is a Pediatrics provider in Boston, Massachusetts. Dr. Castellanos is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Coronary Artery Aneurysm, Total Anomalous Pulmonary Venous Return, Aberrant Subclavian Artery, and Pulmonary Artery Agenesis.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Safwat Aly is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Aly is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Ebstein's Anomaly, Coarctation of the Aorta, Anomalous Left Coronary Artery from the Pulmonary Artery, and Patent Ductus Arteriosus.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Kevin Friedman is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Friedman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Coronary Artery Aneurysm, Kawasaki Disease, Multisystem Inflammatory Syndrome in Children (MIS-C), Embolectomy, and Heart Transplant.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Sarah Pickard is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Pickard is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Coarctation of the Aorta, Subvalvular Aortic Stenosis, Congenital Heart Disease (CHD), and Aortic Valve Stenosis.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    David Schidlow is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Schidlow is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heterotaxy Syndrome, Hypoplastic Left Heart Syndrome (HLHS), Total Anomalous Pulmonary Venous Return, Transposition of the Great Arteries, and Septoplasty.

    Experienced in Pompe Disease
    Experienced in Pompe Disease

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Ashley Marchese is a Pediatrics provider in Boston, Massachusetts. Dr. Marchese is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Croup, Autism Spectrum Disorder, Genetic Epilepsy with Febrile Seizures Plus (GEFS+), and Respiratory Syncytial Virus (RSV) Infection.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Boston Children's Hospital

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Daniel Quiat is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Quiat is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Williams Syndrome, Noonan Syndrome, Cardiomyopathic Lentiginosis, Cardiofaciocutaneous Syndrome, and Heart Transplant.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Experience:
    10+ years
    Languages Spoken:
    English

    Kristin Bonello is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Bonello has been practicing medicine for over 10 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Arachnodactyly, Marfan Syndrome, Congenital Contractural Arachnodactyly, and CHARGE Syndrome.

    Experienced in Pompe Disease
    Pediatric Cardiology
    Experienced in Pompe Disease
    Pediatric Cardiology

    Department Of Cardiology

    300 Longwood Ave, 
    Boston, MA 
     (2.8 miles away)
    Languages Spoken:
    English

    Michael Day is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Day is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heart Murmurs, Heart Block, Ventricular Septal Defects, Brugada Syndrome, and Myringotomy.

    Showing 1-20 of 39

    Last Updated: 02/22/2026

    What is the definition of Pompe Disease?

    Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

    Which doctors treat Pompe disease?     

    Pompe disease is usually treated by a multidisciplinary team of specialists. This care team can include a neurologist, who treats nerve and muscle problems, and a geneticist, who understands conditions caused by changes in genes. Cardiologists may help if the heart is affected, while pulmonologists help if breathing is a concern. Physical therapists and dietitians may also be part of the care team to assist with muscle strength and nutrition. 

    How is Pompe disease diagnosed?     

    Pompe disease is a rare genetic disorder, so diagnosing it can sometimes take time. Doctors usually start with blood tests to check the level of an enzyme called acid alpha-glucosidase (GAA). People with Pompe disease have low levels of this enzyme. If the blood test shows a problem, genetic testing is often done to confirm the diagnosis by looking for changes in the GAA gene. Sometimes, doctors may also do a muscle biopsy, where a small sample of muscle is taken and checked for signs of the disease. Early diagnosis is important for starting treatment as soon as possible. 

    How is Pompe disease treated? 

    Pompe disease is treated with enzyme replacement therapy (ERT). This treatment gives the body more of the enzyme that is missing or not working well. ERT is delivered through an IV and helps slow down the muscle damage caused by Pompe disease. Other treatments depend on how the disease affects the body. Physical therapy can help keep muscles strong and improve movement. Some people may need breathing support, like using a ventilator, if their lungs are affected. In severe cases, especially in infants, heart care may also be needed. A dietitian might help with nutrition, especially if eating or swallowing becomes hard.  

    What is the life expectancy for someone with Pompe disease? 

    Life expectancy for someone with Pompe disease depends on the type and when it’s diagnosed. Infantile-onset Pompe disease, which appears in babies, can be very serious. Without treatment, babies may not survive beyond their first year. With ERT and early diagnosis, some babies can live much longer. In late-onset Pompe disease, which appears later in life, life expectancy varies but can be improved with treatment. While Pompe disease is lifelong, early treatment and regular care can help people manage their symptoms and improve their quality of life.   

    When should I see a Pompe Disease doctor near Boston, MA?

    There are various reasons why you may want to see a specialist, such as: 

    • Your primary care provider recommends it. 
    • Your condition requires expert knowledge and specialized care. 
    • Your symptoms persist or worsen despite treatment. 
    • You need specialized testing or procedures. 
    • You want a second opinion.  

    What should I consider when choosing a Pompe Disease doctor near Boston, MA?

    It’s important to see a provider with expertise in your specific condition. Each provider profile in MediFind’s doctor database includes information on which conditions they treat, years of experience, research contributions, languages spoken, insurance plans accepted, and more.  

    How does MediFind rank Pompe Disease doctors near Boston, MA?

    MediFind’s rankings are based on a variety of data sources, such as the number of articles a doctor has published in medical journals, participation in clinical trials and industry conferences, as well as the number of patients that provider sees for a given condition. Note that MediFind’s provider database is not based on user reviews, and providers do not pay to be included in the database. 

    What types of insurance are accepted by Pompe Disease doctors near Boston, MA?

    Most profiles in MediFind’s doctor database include a list of insurance plans accepted by that provider. However, it’s a good idea to contact the provider’s office to make sure they still accept your insurance, then doublecheck by contacting your insurance plan to confirm they’re in network. 

    How can I book an appointment online with a Pompe Disease doctor near Boston, MA?

    MediFind offers direct scheduling for certain providers using the “Request Appointment” button on that provider’s profile. If the schedule option is not available for a provider, tap the red “Show Phone Number” button on their profile to get their contact information. If you prefer to find providers who offer online scheduling, select “Schedules online” under the “Availability” category of the filter feature on the left side of the Pompe Disease doctor search results page. 

    Why is it important to get a second opinion from a different Pompe Disease doctor?

    Second opinions are an opportunity to confirm a diagnosis and its root cause, learn about alternative treatment options, or simply gain peace of mind. Many people, especially those with serious diagnoses, get second opinions so they can understand all their options and make informed decisions, so don’t hesitate to get one if you have any doubts or need more information or clarification regarding your care. Note that some insurance plans require second opinions, while others don’t cover second opinions, so be sure to confirm with your insurance provider first.   

    How can I prepare for my appointment with a Pompe Disease doctor near Boston, MA?

    Prepare for your appointment by gathering the following items: 

    • Copies of medical records (dating back at least one year) 
    • Your medical history, including illnesses, medical conditions, surgeries, and other doctors you see 
    • Family history of disease 
    • List of current prescription drugs, over-the-counter medicines, vitamins, and herbal remedies or supplements including names and doses 
    • Allergies to medications, food, latex, insects, etc.  
    • List of questions and concerns 
    • Your insurance card 

    You might also contact the provider’s office to see if they offer transportation or childcare services or if you’re allowed to bring a loved one for support or to take notes during your visit. 

    What questions should I ask my Pompe Disease doctor?

    Here are some sample questions: 

    • Can you explain in simple terms what this condition is and how it’s treated? 
    • What symptoms or side effects should I watch for? 
    • What tests will be involved, and when can I expect results? 
    • Are there other specialists I need to see? 
    • What’s the best way to reach you if I have follow-up questions? 

    How can I learn about the latest clinical trials and research advances my Pompe Disease doctor may know about?

    MediFind’s Clinical Trials tool asks you a series of questions to help you narrow down your search by health condition, age, gender, location, how far you’re willing to travel, and more. Each question you answer filters down the number of trials until you find the ones that are most relevant to you. 

    MediFind’s Latest Advances tool features summaries of recent articles published in medical journals. We use cutting-edge technology to scour medical publication databases for the latest research advancements on any given condition, then we simplify this information in a way that’s useful and easy to understand. 

    Can I filter my search to show male or female Pompe Disease doctors near Boston, MA?

    Look for the filter feature on the left side of the Pompe Disease doctor search results page. Select “Female” or “Male” under the “Gender” category to search for female or male providers exclusively. If the “Any” option is selected, it will pull results for both male and female providers. 

    Can I filter my search to find a Pompe Disease doctor that offers video calls?

    Look for the filter feature on the left-side of the Pompe Disease doctor search results page. Select “Offers telehealth visits” under the Availability category to search for providers who offer virtual appointments (video calls). 

    Reviewed on: 11/11/24  

    By: MediFind Medical Staff 

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