Find Them Pty(Ltd)

 The Gaucher Society of South Africa is a registered Non-Profit Organisation
which focuses on all Lysosomal Storage Diseases across South Africa.

Pedalling4Pompe is a charity organization involved with the treatment and long-term care of patients and families affected by Pompe Disease.

What is Pompe Disease?

Pompe disease is a genetic condition and neuromuscular disorder which affects primarily the heart and skeletal muscles. It affects individuals at all ages right from birth to as late as the sixth decade of life. It is caused by the deficiency of an enzyme which is called acid alpha-glucosidase. This enzyme helps breakdown glycogen. When this enzyme is deficient, glycogen builds up in the various muscle tissues of the body including cardiac and skeletal muscle.

Pompe disease is a continuum of disease spectrum. At one extreme is the infantile presentation where babies are extremely hypotonic, have significant cardiomyopathy and typically die within the first year of life without any intervening therapy. The cause of death is usually cardiorespiratory failure. It is a lethal disease.For patients who have the later onset forms of Pompe disease, survival is increased, but there is still significant morbidity and early mortality even with adults with Pompe disease.

What is the treatment for Pompe? Continous Enzyme replacement therapy is the only form of available treatment available to date. ERT is very expensive costing approcaimately R2.5million per patient per annum. various therapy?s such as Physio, occupational and speech therapy are also very necessary to facilitate muscle stimulation in Pompe patients.

How will Pedalling 4 Pompe make a difference?

All funds raised will be used for the following purposes:

  1) Assist suspected patients with initial diagnostic costs.

  2) Facilitate newly diagnoses patients getting onto treatment without delay.

  3) Assist patients with medical insurance premiums

  4) Provide support to newly diagnosed, as well as patients on treatment.

  5) Create awareness of Pompe.

  6) Fund on-going local research on Pompe.