Maybe it starts out like any other flu you’ve had, except that you notice you get the flu so much more than those around you. You’re always reminded of your parents who said you used to always get sick as a child. You go to a doctor who repeatedly tests you but can’t find out why. After an extensive panel you find out why- you have one the rare diseases genetic in origin, called cystic fibrosis. Can I take a pill? Undergo surgery? Your doctor tells you that this isn’t that kind of disease. You got a faulty version of a gene in your body, that will make you sick all your life, and you’ll always need an expert to treat your condition. The symptoms can be treated, not the disease. You worry, thinking about what you’ve heard. Will it ever be possible to live a normal life?
Rare diseases, also sometimes called orphan diseases, are those diseases that affect a very small percentage of the population. There are many types of rare diseases genetic being one of the main categories. In genetic disease the patient inherits a faulty or unusual gene or genes. Because genes hold the information for making proteins in the body, protein production is impaired, or absent. If the faulty gene holds the information for an enzyme that helps your body’s immune system fight off disease you will get infections quite often, as happens in Myeloperoxidase deficiency. There are indeed many difficulties for people who are afflicted with rare diseases. Most rare diseases genetic in particular cause death early in life, and even when patients survive beyond these early years the diseases can often be very difficult to diagnose, requiring expensive and advanced testing by experts. Once the diagnosis is established there may yet be more difficulties. Because so few people get such diseases, pharmaceutical companies may feel the investment in producing treatments will not be profitable. Even when treatments exist they often require very specialized doctors to administer them. Even more importantly, patients and their loved ones may have difficulty coming to terms with their unique situation; but there is yet hope for those with rare diseases genetic or other, to overcome their affliction and to lead full, productive, and normal lives. The first step is to talk to your doctor, and understand as much as you can about your disease, its symptoms, prognosis, and how you can stay healthy. This may require special diets, exercise regimens, testing, even moving to special areas or climates. You should also get a second opinion and visit a doctor who specializes in your disease. A good step may also be to have your family members tested because genetic diseases can run in families.
Next continue getting information from credible sources online. An excellent starting point is the National Institutes of Health (NIH) websites maintained by the US Federal government. Many patients and their loved ones with rare diseases often find it difficult to come to grips and adjust with their conditions. In this regard an excellent resource are online forums, where groups of caregivers and patients often interact, sharing their experiences, information, wisdom, and tips or organizing meets, support groups, and events for patients. They may also have lists of resources or special hospitals, doctors, products, or schools where the special need of patients can be fulfilled. Most impertinently, they can provide an empathetic ear to those undergoing similar experiences. Amongst patients with rare diseases genetic diseases in particular have large support forums which can be found online.
Tips and comments
Often such forums may also be a part of local or national bodies which help and represent patients with such diseases. It is a good idea to get in touch with these national or local bodies and actively participate in their activities. If you or your loved one suffers from a rare genetic diseases follow the tips outlined above and set yourself on a path to a full and healthy life today.
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