Rare genetic disorders

Rare disorders are conditions that are prevalent in an extremely low proportion of the population and therefore are not extremely well known among the common public. Since there is little known about the condition, the specific conditions can result in a number of visits to the doctor to understand the implications of the condition. This takes a toll on the patient as well the family members since conditions like these are likely to involve lifestyle changes and more. Rare diseases are also sometimes called orphan diseases and these conditions are more likely than not genetic in nature. Since these are genetic, rare diseases are mostly diagnosed relatively early in the life of the patient.

Genetic disorders are those that are caused due to abnormalities in the gene structure or chromosome pattern. Since the condition is based on the specific genetic structure of the afflicted, the genetic disorders tend to be rare and therefore are called rare genetic disorders. These disorders can be single gene disorders, multifactorial or polygenic in nature. Even though these conditions are rare, there are more than 4000 diseases that are associated with a single gene disorder itself, let alone the conditions that are caused by multifactorial gene disorders.

Given the complexity that physicians are grapping with when it comes to such issues, the national organization for rare disorders was founded in 1983 by Abbey Meyers. The American non profit organization aims at supporting patients and families of those who need to face such rare skin disorders and other conditions. Meyers established this organization to help his son who suffered from Tourette Syndrome and while this condition is not a rare disease, it was an orphan drug (drugs that are also used for treatment of rare diseases) that ultimately helped his son recover.

Rare genetic disorder can be avoided by ensuring fetus screening for such issues. It is also important that a newborn be checked for these since early detection can make all the difference to the manner in which the treatment progresses. Since these are rare conditions, past cases that can be referred to are few and far between and therefore the physician needs to learn as he treats and there is a fair amount of trial and error that needs to be accepted by the patient and the family. Additionally since the medicines and treatment options are not available more commonly, there is a fair amount of interaction between physicians and those developing the medication. Pricing of such treatment options becomes an issue that all stakeholders need to grapple with.

There is now some support that Americans can expect to have from institutions that have been built around supporting those who have a rare condition. However, the support available is far lesser than that available for other conditions that are more common. For issues that are common, there are various centers for rehabilitation, family support, counseling and more. On the other hand, people with rare disorders still struggle to find adequate support form the medical fraternity.



For more information visit: National organization of rare diseases | Fit Health | Men’s Health