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    Last Updated: 10/30/2025

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    MediFind found 41 doctor with experience in Pompe Disease near Massachusetts, US. Of these, 37 are Experienced, 3 are Advanced and 1 are Distinguished.

    Location
    LocationClose
    41 providers found
      Experienced in Pompe Disease
      Pulmonary Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine

      Baystate Medical Practices Inc

      3300 Main St, 
      Springfield, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Douglas Johnson is a Pulmonary Medicine provider in Springfield, Massachusetts. Dr. Johnson is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Lung Metastases, Chronic Obstructive Pulmonary Disease (COPD), and Swyer-James Syndrome. Dr. Johnson is currently accepting new patients.

      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics
      Distinguished in Pompe Disease
      Medical Genetics | Pediatrics

      Baystate Medical Practices Inc

      50 Wason Ave, 
      Springfield, MA 
      Languages Spoken:
      English

      Mary-alice Abbott is a Medical Genetics specialist and a Pediatrics provider in Springfield, Massachusetts. Dr. Abbott is rated as a Distinguished provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Mucopolysaccharidosis Type 1 (MPS I, Hurler Syndrome), Danon Disease, and Mucopolysaccharidosis Type 4 (MPS IV, Morquio Syndrome).

      What does Elite, Distinguished, Advanced, Experienced mean?
      Anthony A. Amato
      Advanced in Pompe Disease
      Advanced in Pompe Disease

      Brigham And Women's Hospital, Neurosciences Center

      60 Fenwood Road, Hale Building For Transformative Medicine, 1st Floor, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Anthony Amato is a Neurologist in Boston, Massachusetts. Dr. Amato is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Inclusion Body Myositis, Myositis, Polymyositis, Thymectomy, and Gastrostomy. Dr. Amato is currently accepting new patients.

      Learn about our expert tiers
      Advanced in Pompe Disease
      Medical Genetics
      Advanced in Pompe Disease
      Medical Genetics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Olaf Bodamer is a Medical Genetics provider in Boston, Massachusetts. Dr. Bodamer is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Kabuki Syndrome, Classic Galactosemia, Niemann-Pick Disease, and Mucopolysaccharidoses (MPS). Dr. Bodamer is currently accepting new patients.

      Advanced in Pompe Disease
      Pediatric Pulmonology
      Advanced in Pompe Disease
      Pediatric Pulmonology
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English

      Christopher Hug is a Pediatric Pulmonologist in Boston, Massachusetts. Dr. Hug is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Pompe Disease and Cystic Fibrosis.

      Akshay S. Desai
      Experienced in Pompe Disease
      Cardiology | Advanced Heart Failure and Transplant Cardiology
      Experienced in Pompe Disease
      Cardiology | Advanced Heart Failure and Transplant Cardiology

      Brigham And Womens Physicians Organization Inc

      70 Francis St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Akshay Desai is a Cardiologist and an Advanced Heart Failure and Transplant Cardiologist in Boston, Massachusetts. Dr. Desai is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Heart Failure with Preserved Ejection Fraction (HFpEF), Heart Failure, Low Blood Pressure, Bone Marrow Aspiration, and Thrombectomy. Dr. Desai is currently accepting new patients.

      Steven D. Colan
      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics
      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English

      Steven Colan is a Pediatric Cardiologist and a Pediatrics provider 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.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Stephanie Sacharow is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Sacharow is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Cat Eye Syndrome, and Dihydropteridine Reductase Deficiency. Dr. Sacharow is currently accepting new patients.

      Experienced in Pompe Disease
      Medical Genetics
      Experienced in Pompe Disease
      Medical Genetics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, Bch3446, 
      Boston, MA 
      Languages Spoken:
      English
      Offers Telehealth

      Melinda Peters is a Medical Genetics provider in Boston, Massachusetts. Dr. Peters is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are N-Acetyl-Alpha-D-Galactosaminidase Deficiency Type 3, Mucopolysaccharidoses (MPS), Mucopolysaccharidosis Type 7 (MPS VII, Sly Syndrome), and Mucopolysaccharidosis Type 6 (MPS VI, Maroteaux-Lamy Syndrome).

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics

      Children's Hospital Pediatric Associates, Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Amy Kritzer is a Medical Genetics specialist and 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 Smith-Lemli-Opitz Syndrome. Dr. Kritzer is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics | Cardiology
      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics | Cardiology

      Boston Childrens Heart Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Wayne Tworetzky is a Pediatric Cardiologist and 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). Dr. Tworetzky is currently accepting new patients.

      Experienced in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine | Intensive Care Medicine

      Pratt Medical Group Inc

      800 Washigton St, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      Nicholas Hill is a Pulmonary Medicine specialist and 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. Dr. Hill is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatric Neurology | Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Pediatric Neurology | Medical Genetics | Pediatrics

      C H Neurology Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Basil Darras is a Pediatric Neurologist and a Medical Genetics provider in Boston, Massachusetts. Dr. Darras is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Spinal Muscular Atrophy Type 2, Spinal Muscular Atrophy Type 1, and Gastrostomy. Dr. Darras is currently accepting new patients.

      Experienced in Pompe Disease
      Experienced in Pompe Disease
      55 Lake Ave N, Department Of Endocrinology, 
      Worcester, MA 
      Languages Spoken:
      English

      Raffaella Colzani is an Endocrinologist in Worcester, Massachusetts. Dr. Colzani is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Postmenopausal Osteoporosis, Osteoporosis, Pompe Disease, and Hashimoto Thyroiditis.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Edward Neilan is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Neilan is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Cockayne Syndrome Type 1, Cockayne Syndrome, Cockayne Syndrome Type 2, and Cerebellar Hypoplasia. Dr. Neilan is currently accepting new patients.

      Experienced in Pompe Disease
      Neurology | Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Neurology | Medical Genetics | Pediatrics
      55 Fruit St, 
      Boston, MA 
      Languages Spoken:
      English

      Kathryn Swoboda is a Neurologist and a Medical Genetics provider 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 Spinal Muscular Atrophy (SMA), Primary Lateral Sclerosis, Muscle Atrophy, and Alternating Hemiplegia of Childhood.

      Experienced in Pompe Disease
      Advanced Heart Failure and Transplant Cardiology | Pediatrics | Pediatric Cardiology
      Experienced in Pompe Disease
      Advanced Heart Failure and Transplant Cardiology | Pediatrics | Pediatric Cardiology

      Boston Childrens Heart Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Kevin Daly is an Advanced Heart Failure and Transplant Cardiologist and a Pediatrics provider 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, Restrictive Cardiomyopathy (RCM), and Heart Transplant. Dr. Daly is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics | Cardiology
      Experienced in Pompe Disease
      Pediatric Cardiology | Pediatrics | Cardiology

      Boston Childrens Heart Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Rebecca Beroukhim is a Pediatric Cardiologist and a Pediatrics provider 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), Heart Transplant, and Myringotomy. Dr. Beroukhim is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatric Cardiology | Cardiology | Pediatrics
      Experienced in Pompe Disease
      Pediatric Cardiology | Cardiology | Pediatrics

      Boston Childrens Heart Foundation Inc

      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English
      Accepting New Patients

      Jami Levine is a Pediatric Cardiologist and a 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). Dr. Levine is currently accepting new patients.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      300 Longwood Ave, 
      Boston, MA 
      Languages Spoken:
      English

      William Brucker is a Medical Genetics specialist and a Pediatrics provider in Boston, Massachusetts. Dr. Brucker is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Lysosomal Acid Lipase Deficiency, Cholesteryl Ester Storage Disease, Wolman Disease, and Fetal Thalidomide Syndrome.

      Showing 1-20 of 41

      Last Updated: 10/30/2025

      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 in Massachusetts, US?

      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 in Massachusetts, US?

      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 in Massachusetts, US?

      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 in Massachusetts, US?

      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 in Massachusetts, US?

      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 in Massachusetts, US?

      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 in Massachusetts, US?

      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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