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    Last Updated: 10/30/2025

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    MediFind found 21 doctor with experience in Pompe Disease near Wisconsin, US. Of these, 17 are Experienced and 4 are Advanced.

    Location
    LocationClose
    21 providers found
      Advanced in Pompe Disease
      Pediatrics | Medical Genetics
      Advanced in Pompe Disease
      Pediatrics | Medical Genetics
      9000 W Wisconsin Ave, Division Of Genetics, 
      Milwaukee, WI 
      Languages Spoken:
      English, Spanish
      Accepting New Patients

      Esperanza Font-Montgomery is a Pediatrics specialist and a Medical Genetics provider in Milwaukee, Wisconsin. Dr. Font-Montgomery is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Maple Syrup Urine Disease, Pompe Disease, Danon Disease, and Phenylketonuria (PKU). Dr. Font-Montgomery is currently accepting new patients.

      Advanced in Pompe Disease
      Advanced in Pompe Disease

      University Of Wisconsin Medical Foundation Inc

      600 Highland Ave, 
      Madison, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Timothy Kamp is a Cardiologist in Madison, Wisconsin. Dr. Kamp is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Long QT Syndrome, Long QT Syndrome 2, Jervell Lange-Nielsen Syndrome (JLNS), and Atrial Fibrillation. Dr. Kamp is currently accepting new patients.

      What does Elite, Distinguished, Advanced, Experienced mean?
      Advanced in Pompe Disease
      Neurology | Pediatric Neurology
      Advanced in Pompe Disease
      Neurology | Pediatric Neurology
      600 Highland Ave, 
      Madison, WI 
      Languages Spoken:
      English, Polish
      Accepting New Patients

      Andrew Waclawik is a Neurologist and a Pediatric Neurologist in Madison, Wisconsin. Dr. Waclawik is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Myasthenia Gravis, Guillain-Barre Syndrome, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), and Mitochondrial Complex 3 Deficiency. Dr. Waclawik is currently accepting new patients.

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

      St Vincent Hospital-Hospital Sisters-Third Order Of St Francis

      1821 S Webster Ave, 
      Green Bay, WI 
      Languages Spoken:
      English, Hindi, Telugu
      Accepting New Patients

      Prasad Kanneganti is a Neurologist in Green Bay, Wisconsin. Dr. Kanneganti is rated as an Advanced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Limb-Girdle Muscular Dystrophy, Limb-Girdle Muscular Dystrophy Type 1B, Limb-Girdle Muscular Dystrophy Type 2A, and Limb-Girdle Muscular Dystrophy Type 2B. Dr. Kanneganti is currently accepting new patients.

      Charles Santilukka
      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine

      Aurora Family Medicine

      1020 35th St, 
      Kenosha, WI 
      Languages Spoken:
      English

      Charles Santilukka is a primary care provider, practicing in Family Medicine in Kenosha, Wisconsin. Dr. Santilukka is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Danon Disease, Pompe Disease, Familial Hypertension, and Glucocorticoid-Remediable Aldosteronism.

      Experienced in Pompe Disease
      Pediatric Cardiology
      Experienced in Pompe Disease
      Pediatric Cardiology
      9000 W Wisconsin Ave, Pediatric Cardiology, 
      Milwaukee, WI 
      Languages Spoken:
      English

      Ann Punnoose is a Pediatric Cardiologist in Milwaukee, Wisconsin. Dr. Punnoose is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Pompe Disease, Myocardial Contusion, Wolff-Parkinson-White Syndrome, Paroxysmal Supraventricular Tachycardia (PSVT), and Heart Transplant.

      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      Experienced in Pompe Disease
      Medical Genetics | Pediatrics
      1500 Highland Ave, 
      Madison, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Robert Steiner is a Medical Genetics specialist and a Pediatrics provider in Madison, Wisconsin. Dr. Steiner is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Smith-Lemli-Opitz Syndrome, Opitz G BBB Syndrome, Osteogenesis Imperfecta, and Homozygous Familial Hypercholesterolemia (HoFH). Dr. Steiner is currently accepting new patients.

      Experienced in Pompe Disease
      Pulmonary Medicine
      Experienced in Pompe Disease
      Pulmonary Medicine

      University Of Wisconsin Medical Foundation Inc

      600 Highland Ave, 
      Madison, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Nizar Jarjour is a Pulmonary Medicine provider in Madison, Wisconsin. Dr. Jarjour is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Asthma, Eosinophilic Asthma, Pulmonary Fibrosis, Chronic Obstructive Pulmonary Disease (COPD), and Endoscopy. Dr. Jarjour is currently accepting new patients.

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

      The Medical College Of Wisconsin Inc

      8701 Watertown Plank Rd, Room 4041 Mfrc, 
      Milwaukee, WI 
      Languages Spoken:
      English

      Donald Basel is a Medical Genetics specialist and a Pediatrics provider in Milwaukee, Wisconsin. Dr. Basel is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Achondroplasia, Neurofibromatosis, Neurofibromatosis Type 1 (NF1), and Crouzon Syndrome.

      Experienced in Pompe Disease
      Internal Medicine
      Experienced in Pompe Disease
      Internal Medicine

      Gundersen Lutheran Medical Center Inc

      1900 S Ave, Complianace Nca1 09, 
      La Crosse, WI 
      Languages Spoken:
      English
      Accepting New Patients
      Offers Telehealth

      John Herath is a primary care provider, practicing in Internal Medicine in La Crosse, Wisconsin. Dr. Herath is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Alzheimer's Disease, Maturity Onset Diabetes of the Young, Type 2 Diabetes (T2D), and Klinefelter Syndrome. Dr. Herath is currently accepting new patients.

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

      Mchs Hospitals Inc

      2310 Craig Rd, 
      Eau Claire, WI 
      Languages Spoken:
      English, Spanish, Thai
      Accepting New Patients

      Richard Willes is a Pediatric Cardiologist and a Cardiologist in Eau Claire, Wisconsin. Dr. Willes is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Ebstein's Anomaly, Pompe Disease, Danon Disease, and Subvalvular Aortic Stenosis. Dr. Willes is currently accepting new patients.

      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine

      Oconto Hospital And Medical Center Inc

      107 E Highland Dr, 
      Oconto Falls, WI 
      Languages Spoken:
      English
      Accepting New Patients

      James Gast is a primary care provider, practicing in Family Medicine in Oconto Falls, Wisconsin. Dr. Gast is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are High Cholesterol, Type 2 Diabetes (T2D), Hypertension, Familial Hypertension, and Intrauterine Device Insertion. Dr. Gast is currently accepting new patients.

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

      Mchs Hospitals Inc

      1000 N Oak Ave, 
      Marshfield, WI 
      Experience:
      9+ years
      Languages Spoken:
      English
      Accepting New Patients

      Samuel Huang is a Medical Genetics specialist and a Pediatrics provider in Marshfield, Wisconsin. Dr. Huang has been practicing medicine for over 9 years and is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Coenzyme Q Cytochrome C Reductase Deficiency, Pompe Disease, Danon Disease, and Cortical Dysplasia. Dr. Huang is currently accepting new patients.

      Experienced in Pompe Disease
      Experienced in Pompe Disease
      1000 N Oak Ave, 
      Marshfield, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Keith Pulvermacher is a Pediatrics provider in Marshfield, Wisconsin. Dr. Pulvermacher is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top area of expertise is Pompe Disease. Dr. Pulvermacher is currently accepting new patients.

      Experienced in Pompe Disease
      Family Medicine
      Experienced in Pompe Disease
      Family Medicine
      7322 236th Ave, 
      Salem, WI 
      Languages Spoken:
      English

      Brigg Barsness is a primary care provider, practicing in Family Medicine in Salem, Wisconsin. Dr. Barsness is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Subacute Combined Degeneration, Post Polio Syndrome, Folate Deficiency, and Multiple Carboxylase Deficiency.

      Experienced in Pompe Disease
      Medical Genetics
      Experienced in Pompe Disease
      Medical Genetics
      8701 W Watertown Plank Rd, 
      Milwaukee, WI 
      Languages Spoken:
      English
      Accepting New Patients

      Evan-jacob Garcia is a Medical Genetics provider in Milwaukee, Wisconsin. Dr. Garcia is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Increased Head Circumference, Micrognathia, Microcephaly, and 3MC Syndrome. Dr. Garcia is currently accepting new patients.

      Experienced in Pompe Disease
      Experienced in Pompe Disease

      Gundersen Lutheran Medical Center Inc

      1900 S Ave, Complianace Nca1 09, 
      La Crosse, WI 
      Languages Spoken:
      English, French, Russian
      Accepting New Patients
      Offers Telehealth

      Michael Leone is a Neurologist in La Crosse, Wisconsin. Dr. Leone is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Troyer Syndrome, Spastic Paraplegia-Epilepsy-Intellectual Disability Syndrome, Spastic Paraplegia Type 5A, and Spastic Paraplegia Type 2. Dr. Leone is currently accepting new patients.

      Experienced in Pompe Disease
      Neurology | Sleep Medicine
      Experienced in Pompe Disease
      Neurology | Sleep Medicine

      Mchs Hospitals Inc

      1000 N Oak Ave, Provider Enrollment Svcs Shp Fl2, 
      Marshfield, WI 
      Languages Spoken:
      English, Spanish
      Accepting New Patients
      Offers Telehealth

      Jaime Boero is a Neurologist and a Sleep Medicine provider in Marshfield, Wisconsin. Dr. Boero is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Obstructive Sleep Apnea, Restless Legs Syndrome, Central Sleep Apnea, and Peripheral Neuropathy. Dr. Boero is currently accepting new patients.

      Experienced in Pompe Disease
      Pediatrics
      Experienced in Pompe Disease
      Pediatrics
      3200 E Racine St, 
      Janesville, WI 
      Languages Spoken:
      English

      Melissa Bent is a Pediatrics provider in Janesville, Wisconsin. Dr. Bent is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. Her top areas of expertise are Delayed Growth, Autism Spectrum Disorder, Cri-Du-Chat Syndrome, Koolen De Vries Syndrome, and Osteotomy.

      Experienced in Pompe Disease
      Pediatric Pulmonology | Pediatrics | Pulmonary Medicine
      Experienced in Pompe Disease
      Pediatric Pulmonology | Pediatrics | Pulmonary Medicine
      1000 N Oak Ave, 
      Marshfield, WI 
      Languages Spoken:
      English, Hindi, Portuguese, Spanish
      Accepting New Patients

      Joshua Freedman is a Pediatric Pulmonologist and a Pediatrics provider in Marshfield, Wisconsin. Dr. Freedman is rated as an Experienced provider by MediFind in the treatment of Pompe Disease. His top areas of expertise are Asthma in Children, Asthma, and Pompe Disease. Dr. Freedman is currently accepting new patients.

      Showing 1-20 of 21

      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 Wisconsin, 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 Wisconsin, 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 Wisconsin, 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 Wisconsin, 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 Wisconsin, 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 Wisconsin, 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 Wisconsin, 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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