Pedalling for Pompe 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 therapys suchas physio, occupational and speech therapy are also very necessary to facilitiate muscle stimulation in Pompe patients. How will Pedalling 4 Pompe make a difference. 1) P4P will assist patients in paying for the initial tests prior to diagnosis. We are currently working with all the doctors involves with Juan in terms of developing a team where all suspected cases can be referred. These tests include: AAG Blood test determine level of AAG in blood Muscle Biopsy/Heel test in infants determine level of AAG in muscle. ECG and Echo along with cardio consultation Lung-function testing along with Pulmonology consult Initial Physiotherapy/Occupation and Speech therpay assessments. Initial Baseline Bloodwork required. 2)P4P will facilitate getting patients onto treatment without delay. Examples are: Contributing towards surgery costs of insertion of Porto-cath for all infants and young children, as well as adults where necessary. This ensures that infusions are less painful and are able to run with relative ease. Entering negotiations with Genzyme (manufacturers of Myozyme) regarding ICAP (International Compassionate Assistance Programme) for immediate availability of medication whilst authorization etc. is handled with medical aid/State institutions. Contributions towards hospitalization for infusions whilst medical authorization is still being handled. 3) Due to the increased cost if the treatment, all diagnoses patients ideally will need to be on a comprehensive medical aid scheme. P4P plans to assist by: Paying towards/covering the full monthly cost of upgrading a patient initially on a basic medical scheme, dependant on the affordability of each specific patient. Assisting state patients with additional treatment costs not covered at state facilities ie: various therapies. Enrolling state patients who are declined treatment on a comprehensive medical aid and covering those monthly premiums partially/in full dependant on patients affordability.* *The first state patient has only recently been diagnosed and we are still unaware of the outcome of whether treatment will be funded by the Dept. of Health. 4)The challenges involved with dealing with such a disease are often very difficult. P4P aims to assist patients emotionally and ensure that there is always the required support available to all patients and there immediate families. 5)It is estimated that per South Africa’s capita, we should have more than 100 patients on treatment for Pompe disease. Currently, we only have 2 patients on treatment, and 2 newly diagnosed patients currently awaiting feedback on whether treatment will be available. That is a total of 4 out of a possible 100 patients countrywide. It is imperative that awareness is created for this rare condition. 6)P4P plans on working closely with Genzyme and other relative companies regarding constant on-going research as well as providing knowledge, reference material and information on Pompe. If you would like to join the Pedalling 4 Pompe cause you can assist by the following: Sign up to cycle the 94.7 with our team athttp://www.backabuddy.co.za/charity/profile/pedallingforpompe Sponsor a team member per kilometer: Contact Kelly on 072 623 6763 Sponsor the Pedalling for Pompe team: Contact Shevaun on 082 415 3893 Loan Cycling equipment for the “first-time” riders: Contact Frans on 082 397 6867 Make a donation at http://www.backabuddy.co.za/charity/profile/pedallingforpompe
