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This Gap In Our Healthcare System Prevents Me From Seeking Treatment For A Rare Disorder

Zia1Eight years ago, when I was 16, I was diagnosed with a rare neurological disorder. The condition is known as spinocerebellar ataxia (SCA), which is one among a group of genetic disorders characterised by a progressively slow and uncoordinated gait – often with poor coordination of hands, speech and eye movements.

As you can imagine, this makes everyday living pretty hard for me. Spinocerebellar ataxia affects my gait to such an extent that I cannot balance myself, and need a support to walk and move around. However, I am fortunate enough to have people around me who are always willing to help me with everyday tasks which most people take for granted.

I also struggle with episodes of recurring depression, anxiety, panic attacks, bursts of anger and the occasional mood swings. To make matters more difficult, I appear inebriated (ataxic gait is also known as the ‘drunken sailor gait’) to most people. In fact, only few people are aware that I am dealing with a serious medical condition.

There are about 30 types of ataxia, many of which are difficult to diagnose even with the latest medical technology. Although eight years have passed since my diagnosis, the doctors are yet to confirm the type of SCA I suffer from. I have visited a number of hospitals across India – only to find that none of them maintain a register of ataxia patients.

However, there are a few organisations working towards maintaining a registry of rare diseases. Once this is complete, I believe hospitals could use such registries to identify patients and conduct clinical trials to find appropriate treatments. Such registries will make contacting patients far easier than it is today. Additionally, private companies, NGOs and health professionals are actively trying to increase awareness about rare diseases in the country.

Today, I am 23 years old with a BSc degree and an MSc degree in zoology. After acing a state-wide government exam, I was appointed as an assistant professor in the zoology department at my college in Chennai. I have also completed a bachelor’s course in psychology, which I pursued through correspondence. Currently, I am pursuing an MPhil in zoology, after which I plan to do my PhD in genetics. I also hope to enrol in a clinical trial for my condition, and I’m currently looking for opportunities to pursue my studies in a country where such trials are available. This will help me focus on my career as well as my health.

The sad reality is that it is the patient who tries to know about breakthroughs in the diagnosis and treatment of a particular disease, instead of being informed by the medical and research communities. No wonder that given the lack of direction and guidance, patients and their families eventually run out of hope and often give up on finding medical assistance for their conditions. For instance, I came to know of only a few drug trials for Friedreich’s ataxia and limited news on the ongoing clinical research on spinocerebellar ataxia type 12. Apart from this, there is very little clinical research on this group of rare diseases, both globally and in India. Because my type of SCA is still unknown, I cannot participate in these studies.

When I was diagnosed in 2009, there was hardly any information available about such forms of rare diseases, leave alone any clinical research conducted in these areas. In India, the clinical research scenario may not be very conducive or patient-friendly, yet. However, in recent years, there has been some improvement. I am optimistic that this will change for the better in the near future. I also wish that more patients with conditions like mine will have the chance for treatment and can hope to lead healthy lives.

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