July 29, 2019
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!
