‘With research, the possibilities are limitless.’ Rare Disease Day 28th February 2017

Have you ever had the frustration of being misdiagnosed? Your symptoms don’t fade regardless of taking what your physician claims to be the ‘right medication’ for your condition? And when you finally do get diagnosed and have a prognosis plan, the relief you experience? Well, this is what life is like for a person with a rare disease. Except that there is no relief of diagnosis or a right prescription that would wipe out the disease symptoms. A survey conducted in 2010 showed that nearly half of the people with rare diseases are misdiagnosed. Rare Disease Day which falls on the 28th of February is organized by Rare Disease Europe (Eurodis). To commemorate this day we should ask ourselves: when is a disease classified as rare?

Many organizations around the world categorize a disease as ‘rare’ in their respective countries or continent if it affects less than 1 in 2000 people. According to Eurodis, an organization for rare disease in Europe, there are over 6000 rare diseases that have been identified. Most of them are of genetic origin that last a lifetime. Others are a result of infections (bacterial and viral), allergies or environmental causes. In Europe alone over 30 million people could be suffering from one of these 6000 rare diseases, out of which 50% are children. The demographics are catching up with us. But what are the research efforts being put forward for the treatment of rare diseases?

We are not strangers to taking to Google, typing our symptoms on the search engine and clicking on a link that claims you have something as baffling as cancer. But what if there was a search engine solely dedicated to diagnosing your symptoms? As part of a research project, a search engine called FindZebra was developed only for medical professionals. But if we’re being honest, anyone would be compelled to give it a try.

As for research that is not Google-based, in 2015 an article about a potential study called the 100,000 Genomes Project states the project recruited 75,000 participants who have a rare disease to map out their genomes and have their genetic codes sequenced by scientists. Conducted at the New Castle’s Centre for Life, this project will run for 3 years and would, quote ‘open doors for new treatments for future generations with rare diseases.’

Let’s divulge into the details of a rare disease, particularly Systemic Lupus Erythematosus (SLE). More commonly known as Lupus, it is a rare disease that made headlines in 2015 when young popstar Selena Gomez was diagnosed with it. This is not too surprising considering the fact that 90% of young women develop the first symptoms of lupus between the ages 15 and 44, and that it particularly discriminates against people of African American, Latina and Native American descent.
Lupus is an autoimmune disease in which the body’s immune system mistakenly starts attacking healthy body tissue. Lupus is not called the ‘great imitator’ for nothing. The symptoms are starkly similar to other diseases and can also happen all at once causing a ‘flare’ (fever, painful swollen joints, chest pain, sensitivity to sunlight, pale or purple fingers). Apart from these common symptoms a very obvious symptom of lupus diagnosis is a butterfly-shaped rash across your nose and cheeks. Lupus patients are also advised to take good care of their health by doing regular exercise, eating healthy, not smoking and limited exposure to sunlight.

There’s no cure for Lupus but there are medications prescribed to calm the immune system, reduce the occurrence of symptoms and flares, and to protect organs from damage. But don’t lose hope. In 2010 a ‘drug gold mine’ for lupus was developed by Human Genome Sciences’ called Benlysta (belimumab). Belimumab is also an antibody that inhibits a protein that prompts the production of antibody-producing cells called B lymphocytes which Lupus patients have in excess. After promising results were obtained in 2 final-stage trials involving lupus patients the drug was awarded approval in 2011 by the FDA to treat the disease. Benlysta was the first drug that hit the market for the treatment of lupus and also one of the first drugs to come out of genomics.

1 in 2000 people deserve more research efforts into their uniquely rare diseases because too many health professionals are unaware of many rare diseases. Misdiagnosis can be costly or dangerous affecting the patients’ quality of life. Rare disease research could help in the development of personalized medicine because of the close attention paid to an individual’s genetic information and tailor-making treatments for their individual needs. Research on rare disease has also been beneficial in other research efforts into more common and prevalent diseases. A position paper by Eurodis in October 2010 says research on rare diseases has ‘proven to be very useful to better understand the mechanism of common conditions such as obesity and diabetes, as they often represent a model of dysfunction of a single biological pathway,’

As the saying goes ‘‘alone we can do so little, together we can do so much’ the victims of rare disease should not isolate themselves and would greatly assist researchers by doing their bit and contributing to a disease that could potentially be eliminated in future generations.

Written By: Sadiya Badurdeen