• What is Pompe Disease?
    • I don’t know all the scientific terms, but Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. Researchers have identified up to 300 different mutations that cause the symptoms of Pompe disease, which can vary widely in terms of age of onset and severity (think the difference between Patrick and me). The severity of the disease and the age of onset are related to the degree of enzyme deficiency. My symptoms begin in the first months of life, with feeding problems, muscle weakness, floppiness, and head lag. Respiratory difficulties are often complicated by lung infections (that is what landing me in the hospital for 6 weeks when I was 20 months). My heart was enormous. A diagnosis of Pompe disease can be confirmed by a simple blood test.
  • Treatments?
    • Enzyme replacement therapy has been developed that has shown, in clinical trials with infantile patients, to decrease heart size, improve muscle function, tone, and strength, and reduce glycogen accumulation. A drug called Myozyme (Lumizyme) is an FDA-approved drug for the treatment of people with Pompe disease.
  • Prognosis?
    • Without enzyme replacement therapy, the hearts of babies with infantile-onset Pompe disease progressively thicken and enlarge. These babies die before the age of five years from either cardiorespiratory failure or respiratory infection. For people who have late-onset Pompe disease, the prognosis is dependent upon the age of them. In general, the later the age of diagnosis, the slower the progression of the disease. Ultimately, the prognosis is dependent upon the extent of respiratory muscle involvement.


  • Terminology I Might Use:
    • Vent:ltv-1150-ventilator_H_RC_0312-0010.png
      • A machine designed to move air in and out of the lungs, to provide breathing for a patient who is physically unable to breathe.50K and feeding tube awareness 193.JPG
    • G-tube:
      • A tube inserted through the abdomen that delivers food/water/medicine directly to the stomach.
    • Trach:thumb-60SN035.jpg
      • Allows air to pass into the upper trachea and larynx so the patient can cough and speak normally, it connects to the vent.ambu-bag-ventilation-resuscitation-26350569.jpg
    • Ambu:
      • Used for an artificial respiration device consisting of a bag that is squeezed by hand


    •  MediPort:
      • A small medical appliance that is installed beneath the skin, a catheter connects the port to a vein–used for my infusions/blood drawradiology-picc-line-cmplx-illus-lrg_0.png
    • PICC Line:
      • A thin, soft, long catheter that is inserted into a vein in your arm. The tip of the catheter is positioned in a large vein that carries blood into the heart. It is used for long-term intravenous (IV) antibiotics, nutrition or medications, and for blood draws.