#RareDiseases Campaign – Stories of everyday champions & organisations behind them

Over 70 million people across India are affected with rare diseases and there is no clear government policy they can rely on. Nor is there awareness even among many in the medical fraternity, all of which means that patients and family members spend decades groping in the dark for help Our July campaign #RareDiseases highlighted some of their stories as well as people and organisations fighting to change this picture.

Fragile X Syndrome involves multidisciplinary medical expertise, something many patients in India struggle for. If one takes into account all the associated conditions, there are as many as over 40 lakh Indians with this condition, yet it was only this year that guidelines were launched. Our story looked at the efforts being made to spread more awareness as well as how parents/caregivers cope with looking after their loved ones.

It started off as Facebook group and has today grown into a powerful platform for patients with Spinal Muscular Atrophy. The story of
Cure SMA Foundation of India is an example of how effective parent support groups can be.

What do you say about a child who refuses to let Duchenne Muscular Dystrophy (DMD), a severely debilitating condition, come in the way of a consistently brilliant academic performance? Take a bow
Karan Singh Anand!

Karan’s condition led his dad Ravdeep Singh Anand to open India’s first research lab on rare diseases. Called Dystrophy Annihilation Research Trust (DART), the team of scientists have developed a genetic intervention procedure for people with DMD.

We also had the privilege of featuring
Rushabh Desai, an independent financial advisor, who has GNE myopathy, also known as Hereditary Inclusion Body Myopathy (HIBM), a neuromuscular disorder. In My Take, Rushabh talked about his journey coping with the diagnosis and how he changed his life around.

Stigma, misinformation and poor support are some of the major barriers people with rare diseases come up against. When it’s a condition like Rett Syndrome, that mostly affects girls, the walls are that much higher, something that the Indian Rett Syndrome Foundation is fighting.

If there’s one organisation that is attempting to speak for all patients with rare diseases, it’s the Organisation for Rare Diseases in India (ORDIndia). Over the years, it is playing an important role bringing the community together and changing larger attitudes.

From lack of awareness to stigma, patients with, Ataxia, a degenerative disease face challenges on many fronts. We had parents as well as patients share some valuable coping tips.

Pondicherry parent Geetha Narayanswamy wrote in to NewzHook to share her experiences caring for her son Vinayak, who has a rare condition called Sturge Weber syndrome (SWS). So rare that it took 10 days for the Narayanswamys to get a diagnosis in Delhi!

And finally we had another young warrior Zoyeb Zia sharing his experiences leading a fulfilling life with a condition like ataxia.

There are links to specific support groups for each rare disease, so do read and share!

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