Living with any chronic health condition can be demanding but rare diseases come with a unique set of challenges for patients and their care providers. Rare diseases by definition are those which affect only a small number of people. These diseases are chronic and progressive and have major impact on the quality of life of patients afflicted by them. They lead to a wide range of physical and emotional limitations thereby impacting daily activities. Diagnostic difficulties, lack of knowledge, unavailability of medical services and many other issues add to the burden.
While this is a sad situation, the good news is that with timely diagnosis and appropriate treatment, rare disease patients can get some relief and lead better lives.
20-year-old Lavanya is the fitting example of courage of conviction despite suffering from a debilitating rare disease. She is one such patient who has beaten the odds and whose life has changed after receiving treatment. Lavanya was 1.5 years old when she started getting frequent bouts of common cold, fever and breathing problems. All these symptoms had her parents worried and they showed her to their family doctor for treatment. However, the underlying cause of her problems could not be found out. Overtime she started developing further health issues. She was then taken to another doctor for a detailed check-up wherein X-rays of her hands and fingers and scan of her abdomen was done.
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The results revealed that Lavanya was suffering from a disorder called MPS I (Mucopolysaccharidosis I)- a rare disease that affects various body systems and causes organ damage. The doctor informed her parents that there is no treatment for MPS I and hence, they started giving her homeopathy treatment.
The homeopathy treatment, too, could not improve her condition much. With all these events, her parents had reconciled to the fact that Lavanya would not be able to lead a normal life. When 10 years old, a relative recommended her to another doctor for check-up who informed her and her parents that enzyme therapy is available for treatment of MPS I. But the treatment for rare diseases is extremely expensive, and thus, providing treatment for Lavanya was a far-fetched dream for his parents.
Fortunately, in 2008, she was selected under compassionate access program of one of the pharmaceutical companies and started getting Enzyme Replacement Therapy (ERT).
This was a huge relief for Lavanya as well as her parents who could not have afforded the treatment otherwise.
It has been 9 years now that Lavanya is getting treated for MPS I and her life is completely different. Today, she has finished her schooling and is pursuing Civil Engineering. She is healthy now and has a keen interest in fashion and loves dressing up. Moreover, she also has a passion for cooking and cooks various delicacies for her family. The treatment which she is receiving has not only benefited her immensely but has also given her parents a reason to smile.
Lavanya is a clear example of how treatment can change the course of life of a patient. Thus, it is imperative that the treatment for rare diseases be affordable and accessible to more and more patients. It is critical that rare disease patient organisations come together to create awareness about rare diseases and influence the government to focus on providing afforadable treatment. The need of the hour is for national and state policy interventions which can ease access to treatment and diagnosis for such patients.
Written by Mr. Prasanna Shirol, President, Organisation for Rare Diseases India (ORDI).