How do I find a center of excellence in Pompe disease?
If possible, it is best to be followed by a doctor who has experience and expertise in Pompe disease. These doctors usually work in a clinic associated with the Muscular Dystrophy Association (MDA) or with a Lysosomal Storage Disease (LSD) clinic. MDA clinics can be found at www.mda.org. If you have Pompe disease and have a case manager from Sanofi Genzyme, your case manager can give you the contact information for LSD or MDA clinics as well (www.sanofi.com). Below is a small list of LSD clinics that follow patients with Pompe disease.
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What specialist doctors should I see with Pompe disease?
In addition to enzyme replacement therapy for Pompe disease, it is important to follow up regularly with several different medical specialists to manage different symptoms or possible symptoms of Pompe. First, it is recommended that everyone with Pompe disease be followed by a doctor who is knowledgeable about lysosomal storage diseases and/or Pompe disease. This may be a medical geneticist (genetics doctor), a neurologist (nerve doctor) in a Muscular Dystrophy Association clinic, or other doctor who has followed similar patients. Anyone with Pompe disease should follow regularly with a cardiologist (heart doctor) who may recommend an echocardiogram (ultrasound of the heart) and/or electrocardiogram (ECG; study of the heartbeat). A pulmonologist (lung/breathing doctor), gastroenterologist (GI; doctor for eating and swallowing issues), or an orthopedic surgeon (bone doctor) may also be needed depending on the symptoms. Regular physical, occupational, and speech therapy can be very helpful in helping to keep the muscles working longer.
- Case LE Kishnani PS. Physical therapy management of Pompe disease. Genet Med. 2006 May; 8(5):318-27.
- Pompe Recommended Schedule of Assessments
If I have Pompe disease, what should my doctor know about managing the disease?
There are many considerations when managing someone with Pompe disease. First, there are two forms of Pompe disease, an infantile or early onset and a late onset form. Babies with infantile Pompe disease (IOPD) are at risk for having severe heart problems (left ventricular hypertrophy, where one of the four chambers of the heart gets too big and cardiomyopathy, where the heart muscle is weak) as well as breathing problems and swallowing issues. Some children with IOPD need feeding tubes because they cannot swallow well and tracheostomies (trachs; an opening through the neck directly to the windpipe) to help them breathe through a tube. Because babies with IOPD are very weak, they do not move very much and can develop contractures (limited joint mobility), scoliosis (curved spine), and low bone density. Even though the heart reduces in size to normal with treatment with enzyme replacement therapy (ERT), kids with IOPD may still be at risk for heartbeat issues like supraventricular tachycardia (SVT).
In late onset Pompe disease (LOPD), the heart usually doesn't get too large but people may still have heartbeat issues such as conduction blocks and should be seen regularly by a cardiologist (heart doctor). They can have breathing problems and swallowing issues and should be followed by a pulmonologist (breathing/lung doctor) with regular pulmonary function tests and a gastroenterologist (doctor for eating/digestion) with swallow studies. Both patients with IOPD and LOPD should have regular physical therapy. The only available treatment involves an infusion with a man-made enzyme through ERT every two weeks. Case managers at Sanofi Genzyme (www.genzyme.com) can help coordinate authorization through a person's health insurance and location of infusions.