What a rare and orphan disease?

Regularly, I am asked what is an orphan disease? what is the difference between “rare” and “orphan disease”? And some believe that orphan disease is only a disease for which there is no diagnostic or name. I will answer those questions.

First, what is a rare disease?

A rare disease is a disease that has a prevalence (frequency) low in the population. The most common definition of a rare disease is as follows: a disease that affects less than 1 in 2000 people in a population (the United States, a disease for which there are fewer than 200,000 people in the population is said) . Examples of rare diseases: cystic fibrosis, Duchenne muscular dystrophy, Huntington’s disease, myasthenia gravis, Angelman syndrome, etc.. About 7,000 rare diseases have been identified worldwide.

Finally, a rare disease is a disease that has no name. Indeed, an individual may suffer from a disease that doctors are unable to identify. In general, an undiagnosed disease is a rare disease. These diseases are unknown because much of rare diseases.

Quebec’s population is about 7.8 million in 2010, so this means that according to the definition above, a particular rare disease is a disease that affects fewer than 3,900 people in the Quebec population. This number (3,900) is the maximum, because the vast majority of rare diseases have a frequency of less than 1/100, 000 person with the population (fewer than 78 individuals in Quebec).

What is an orphan disease?

The term “orphan” appeared in the early 1980s in the United States in connection with the treatment of rare diseases. Thus, they said that was an orphan disease if there was no treatment for this disease other than treating the symptoms. Companies and researchers were reluctant to develop a drug for a rare disease, because it is not economically profitable. The United States, Europe and some other countries have laws or regulations that allow companies to obtain tax and other advantages to develop a treatment for a rare disease. The experimental drug then obtained the designation of “orphan”.

Rare disease vs. orphan disease

The term “orphan disease” was widespread and often we confuse “rare” and “orphan disease” because the vast majority of rare diseases are neglected in many ways: lack of information about the disease, delay in diagnosis, little information on the medical care, little or no research and no treatment (there are approximately 350 orphan drugs for rare diseases around 7000).

There are rare orphan diseases that are less than others, for example, cystic fibrosis or certain muscle diseases. Either they are the most common or rare, for some reason, they were more “adopted” as other diseases (eg, cystic fibrosis is one of the first major hereditary diseases for which we found the causative gene in the 1980s and which is relatively more research on other rare diseases). But cystic fibrosis is still an orphan treatment that would cure this disease.

Conversely, there are some common diseases that can be considered “orphan”, such as celiac disease, which affects about 1 in 133 people in Canada, but that is still little known and long time to diagnose. Other common orphan diseases are infectious tropical diseases that are more prevalent in developing countries (eg parasites such as roundworms, Chagas disease, leishmaniasis on, etc..). These diseases called “neglected diseases”.

In short

A rare disease is generally defined as a disease with a frequency of less than 1 in 2000 people in the population. An orphan disease is not only an undiagnosed or unknown, but a disease that has a name disease. In general, we can say that “rare disease” equals “orphan disease” because due to their rarity, rare diseases are not adopted by researchers and the pharmaceutical industry and little known in the field of health and population in general. Hoping that one day we no longer rare diseases called orphan diseases


Tips to Find Affordable Health Policy

It is really a matter of financial challenge for one to meet all the cost of medical attention, especially when you have limited resources. But you wouldn’t you have to worry about it at all if you have a proper health policy to cover for all of your medical needs that can arise anytime. So you have to have a health policy. But then the challenge becomes which medical care insurance you should pick and how to pick an affordable one that will provide all the coverage you need. This article will provide you four tips to sort out this daunting task.
•    The familiarity of the health insurance company is significant. A well known insurance company is always preferable. You should look for references to find out whether they are trustworthy or not and Make sure that they creditable enough. An universal truth is that the longer they are in this industry the better they are and they are also more reliable than others. Run an extensive research before you pick one, because it is health that you are trading with them.
•    Once you pick an insurance provider you trust, ask a health insurance policy that you can afford. You might think about making a list of preferences and giving them the list so that they can come up with a policy that would cover most of your preferences. You must read the policy carefully before you make any decision and make sure that they don’t trick you into any trap.
•    Try to know all the benefits they promise to offer. Check whether this policy will suit you or not. Make sure that your policy will cover most of your preferences. You want your policy to be affordable but if it does not cover the basic needs then what is the benefit of getting one.
•    Take all the time you need before you sign the contract. A good insurance company would not force you to sign the contract as they would understand your anxiety. Remember once you sign the contract there is no way back So make your decision wisely.


The Importance of Home Health Services

The popularity of these services is continually growing because more and more trained medical personnel is wanted in order to cover people’s needs for attention and care. Anyone who has left the hospital but still needs medical attention can benefit from these home health services; the patient’s home becomes a sort of hospital extension, providing the same attention, care, support and expertise.

Professional services are one such example and they include several types of medical assistance: regular nursing attention and care, speech, occupational and physical therapy provided by health aides, social workers or caregivers. Due to the fact that it all happens in the patient’s home, the latter has one more advantage; all the professionals mentioned above will furnish precious information to the patient regarding the illness, which, in the end, means understanding the disease and often recovering sooner and better.

It is important to mention that the medical personnel sent to the patient’s home is always well-trained, knowing all the necessary details about the treatment of the illness that particular patient is recovering from; this is the difference between regular care giving services and home health services.

Another manner in which home health services can be provided is represented by pharmaceuticals and infusion therapy. The medical personnel furnishing this type of services can be of great help when pain management or antibiotic care is concerned, but also in case of transfusions or chemotherapy. Such expertise is always provided by trained medical personnel and any reputable agency is capable to provide it.

Those with terminal conditions are not forgotten as they can benefit from home health services, too. The medical personnel are there to provide any medical help plus compassion and understanding towards the patient and his family.

For those suffering form respiratory illnesses, agencies can offer respiratory care, another home health service which is rendered by certified therapists who are ready to furnish therapeutic procedures with utmost expertise and care.

Last but not least, chronic diseases such as coronary failure, cystic fibrosis, diabetes, pulmonary diseases and other such illnesses can be supervised at home by especially trained personnel, capable to understand the meanders of the disease and ready to administer the right treatment when needed. When it comes to this type of health services, patient attention is crucial.

All in all, home health services mean a lot for patients who have the chance to receive proper medical attention in the comfort of their own home, speeding their recovery.