According to the National Institute of Health (NIH), rare diseases are those which only affect fewer than 2,00,000 per year people globally. There are close to 7,000 such diseases and 80% have a genetic cause behind them. Often, the relative obscurity of these diseases means that doctors can miss out on diagnosing the same. As a result, patients with rare diseases symptoms often have an extremely trying time. After all, the rareness of the disease does not affect the misery that a patient goes through. Thus, it’s time to arm yourself with essential facts about these diseases.
Essential Facts about Rare Diseases:
As rare diseases do not affect a large number of people, they pose many different challenges to both, doctors and patients. One of the biggest challenges is the lack of research and funding that is poured into studying these diseases, which ultimately means that there are very few known cures on the table. The following are some facts about rare diseases that patients should come to terms with:
- It can take many years to diagnose the disease: the general lack of awareness about rare diseases in India and the world means that it takes doctors far longer to diagnose the problem. Often, the symptoms of rare diseases mimic those associated with other diseases. Due to this, patients are more likely to end up with incorrect diagnosis and treatments than the correct one. Patients must not lose hope in the face of such conditions.
- Genetic testing can sometimes help eliminate these diseases: Genetic testing can help identify the causes of the rare disease in question, which can help doctors narrow down their rare diseases list and symptoms significantly. This form of testing helps in 25-30% of the cases, making it a viable route to take for patients who present with ‘untreatable’ symptoms.
- There are FDA approved treatments for only 5% of rare diseases: As stated earlier, a rare disease receives lesser research funding. As a result only 5% of these diseases have known, approved cures. More often than not, doctors use a combination of treatments to eliminate symptoms of the disease. Sometimes this works, sometimes it only halts the progression. This is why it is essential for governing bodies to pour money in finding cures for this diseases.
- Infant screening is recommended for all parents: Infant screening have help parents identify whether their child will be born with a rare disease like cystic fibrosis or sickle cell anemia. This can be extremely beneficial as early detection can help with quick treatments and prevention of death or disability. While different hospitals have different screening capabilities, it is essential for parents to screen their babies.
- Rare diseases can be quite expensive: On average, it takes 7 different doctors to diagnose a rare disease. Multiple doctor’s visits and diagnostic tests can really take a toll on a patient financially. Furthermore, the treatment of rare diseases can also be very costly. Health insurance may not cover the disease and this can lead to more financial drain for the patient.
- Prenatal screening is also very helpful: Prenatal screening is a type of testing that checks for diseases in unborn children. Many rare diseases such as Trisomy 18, Trisomy 13 and Edward’s disease can be identified during prenatal screening. Generally the test occurs during the 10th week of pregnancy and occurs in the form of a blood test. Remember that many rare diseases in children in hereditary which is why screening can be extremely helpful.
- Certain types of cancers qualify as rare diseases: When we think of rare diseases, we often think of obscure ones. However, there are certain variants of cancer that fall under this bracket too. Oral cavity cancer and esophageal cancer are rare. Tongue cancer is extremely rare and so is testicular cancer.
- Support groups can go a long way in improving outlook: When you have a rare disease, it helps to talk to someone who is in a similar boat. Finding a good support group can help you do so. This is true for patients as well as their caregivers, who also need some support and emotional encouragement. Dealing with a rare disease can be quite hard and maintaining a positive outlook is highly essential. Patients suffering from rare diseases rely on the internet the most for information. However, in spite of that, it is quite difficult to come across a comprehensive rare diseases list by prevalence that helps patients identify solutions to their problems. This is why a support group can be extremely helpful.
Rare disease day is on February 29, a fitting date that is just as rare! Of course, it is moved to February 28 on non-leap years as it is essential to spread awareness about these diseases, irrespective of the year!