Fifteen-year-old Sai Teja from Hyderabad was surrounded by a battery of journalists at Hyderabad Press Club, Somajiguda and for a moment, he would pass off as some celebrity.
Alas! He wasn't.
His attendant/relative Sukya Naik was taking questions on behalf Sai Teja - a survivor of a rare disease called muscular dystrophy - on the sidelines of an event to mark the World Rare Diseases Day-2019 organised by 'Indian Organisation for Rare Diseases (IORD)', a not-for-profit organisation based out of US and India.
Questions flooded and it turned out that Sukya Naik had spent several lakhs for Sai Teja's treatment and faced several discriminations too along the way.
I added one: What type of muscular dystrophy is he suffering from?
"I don't know but it is there in his medical papers," he replied.
I was curious and followed him to the cafeteria to find out if he could tell me exactly more about Sai Teja's muscular dystrophy but he could not.
This isn't surprising as very few parents of rare disease survivors try to go deeper to find out everything about it.
When I came back from the event, my first query on Google Search was to look for all the types of muscular dystrophy.
I discovered there are nine major types of muscular dystrophy with each having its own onset period, symptoms, lifespan. These types include Becker, Congenital, Duchenne, Emery-Dreifuss, Distal,
Facioscapulohumeral, Limb-Girdle, Myotonic and Oculopharyngeal.
It is likely that Sai Teja's muscular dystrophy could fit the descriptions listed out for the first four types but which one is still not clear to me.
While illiteracy is one reason, there aren't enough organisations like IORD to provide complete information.
Even there are no doctors specialising in one of the 7000 identified rare diseases in the world despite the fact that India is said to be home to an estimated 8-9 crore rare disease patients.
Problems are aplenty that rare disease survivors battle every day but the solution must start somewhere.
Expecting pharma companies to roll out what's called 'Orphan Drug' for treating rare diseases is living in a Utopian world.
Even the case for a registry is futile as expecting hospitals to report them voluntarily is a foregone conclusion.
Reason: Despite legal obligation in reporting communicable diseases like leprosy or swine flu, hospitals rare report the diseases to authorities. A registry will fail for other reasons such as the need for a sophisticated genetics department.
How many hospitals have a full-fledged genetics department?
Solution: Work at the Roots
1. Restructure curriculum
Human genes, their structure, behaviour and causes for variations have to be studied deeper for doctors to understand rare diseases. Unfortunately, you find MSc Genetics course but these subjects aren't taught in depth in medical college. The study of genetics in MBBS/ PG curriculum requires a policy change that the Medical Council of India can do.
Doctors are the first point of contact. If they aren't aware of these 7000 rare diseases, the diagnosis will be a forgotten chapter.
2. Compulsory genetic screening at birth:
Like universal immunisation programme, compulsory genetic screening of newborns must be included in state and national health programs. In the US, 90% of babies born till 2007, at least had a provision that required compulsory screening for 21 genetic disorders. The point is: Can India have it too? There is also an option for prenatal diagnosis of genetic disorders that calls for more research to ensure the cost is borne by the government rather than the patients in India.
3. Ban consanguineous marriages
It is a fact that consanguineous marriage is has a potentially high-risk factor for congenital malformations. It adds up to the list of rare disease survivors in India. Even Sai Teja case is linked to consanguineous marriage. In case couples still want to go for it voluntarily despite knowing the consequences, there should be a law making them undergo genetic compatibility screening with a rider that government sector hospitals will take no responsibility for their offspring.
4. Need to mainstream rare diseases
It is necessary to sensitise media to give rare diseases the same importance it gives to other issues like LGBT as rare disease survivors face discrimination and ridicule at every step from society. The government must support documentaries/ ads/short-films on rare diseases and screen them for creating awareness.
5. Fully sustainable support groups
Like women self-help groups, the government needs to encourage rare disease survivor groups based on their class and type of diseases so that they can benefit from ongoing government schemes.
In fact, Ramaiah Muthyala, the founder of Indian Organization for Rare Diseases (IORD) claims that in India, support groups for rare diseases is confined to only 0.02% only.
6. Focus on 400
It is estimated that 98% of rare disease patients/survivors in the world suffer from one of the 400 rare diseases. Hence, it needs to be the top priority for all the rare disease stakeholders. Though India has done away with mandatory clinical trials in case of 'Orphan Drugs', there are no takers even for these 400 top priority diseases as they don't see a profit.
7. Compulsory CSR funding:
In 2013, India amended the Indian Companies Act directing profit-making companies to mandatorily spend 2% of average net profits on some public or social cause. The government must ration this CSR spending so that there is some visible spending on rare disease cause.
8. Unity is Strength
If all the 7000 rare disease survivors speak up individually, it may not cut ice as no one wants to listen to the unorganised voice. "No doubt, your son or daughter cause is important but unless we speak as one voice, this battle can't be won," said Ramaiah Muthyala.
.
Alas! He wasn't.
 |
| Rare disease survivor Sai Teja |
Questions flooded and it turned out that Sukya Naik had spent several lakhs for Sai Teja's treatment and faced several discriminations too along the way.
I added one: What type of muscular dystrophy is he suffering from?
"I don't know but it is there in his medical papers," he replied.
I was curious and followed him to the cafeteria to find out if he could tell me exactly more about Sai Teja's muscular dystrophy but he could not.
This isn't surprising as very few parents of rare disease survivors try to go deeper to find out everything about it.
When I came back from the event, my first query on Google Search was to look for all the types of muscular dystrophy.
I discovered there are nine major types of muscular dystrophy with each having its own onset period, symptoms, lifespan. These types include Becker, Congenital, Duchenne, Emery-Dreifuss, Distal,
Facioscapulohumeral, Limb-Girdle, Myotonic and Oculopharyngeal.
It is likely that Sai Teja's muscular dystrophy could fit the descriptions listed out for the first four types but which one is still not clear to me.
While illiteracy is one reason, there aren't enough organisations like IORD to provide complete information.
Even there are no doctors specialising in one of the 7000 identified rare diseases in the world despite the fact that India is said to be home to an estimated 8-9 crore rare disease patients.
Problems are aplenty that rare disease survivors battle every day but the solution must start somewhere.
Expecting pharma companies to roll out what's called 'Orphan Drug' for treating rare diseases is living in a Utopian world.
Even the case for a registry is futile as expecting hospitals to report them voluntarily is a foregone conclusion.
Reason: Despite legal obligation in reporting communicable diseases like leprosy or swine flu, hospitals rare report the diseases to authorities. A registry will fail for other reasons such as the need for a sophisticated genetics department.
How many hospitals have a full-fledged genetics department?
 |
| A Rare Disease Survivor with her family at World Rare Disease Day-2019 at Press Club, Hyderabad |
Solution: Work at the Roots
1. Restructure curriculum
Human genes, their structure, behaviour and causes for variations have to be studied deeper for doctors to understand rare diseases. Unfortunately, you find MSc Genetics course but these subjects aren't taught in depth in medical college. The study of genetics in MBBS/ PG curriculum requires a policy change that the Medical Council of India can do.
Doctors are the first point of contact. If they aren't aware of these 7000 rare diseases, the diagnosis will be a forgotten chapter.
2. Compulsory genetic screening at birth:
Like universal immunisation programme, compulsory genetic screening of newborns must be included in state and national health programs. In the US, 90% of babies born till 2007, at least had a provision that required compulsory screening for 21 genetic disorders. The point is: Can India have it too? There is also an option for prenatal diagnosis of genetic disorders that calls for more research to ensure the cost is borne by the government rather than the patients in India.
3. Ban consanguineous marriages
It is a fact that consanguineous marriage is has a potentially high-risk factor for congenital malformations. It adds up to the list of rare disease survivors in India. Even Sai Teja case is linked to consanguineous marriage. In case couples still want to go for it voluntarily despite knowing the consequences, there should be a law making them undergo genetic compatibility screening with a rider that government sector hospitals will take no responsibility for their offspring.
4. Need to mainstream rare diseases
It is necessary to sensitise media to give rare diseases the same importance it gives to other issues like LGBT as rare disease survivors face discrimination and ridicule at every step from society. The government must support documentaries/ ads/short-films on rare diseases and screen them for creating awareness.
5. Fully sustainable support groups
Like women self-help groups, the government needs to encourage rare disease survivor groups based on their class and type of diseases so that they can benefit from ongoing government schemes.
In fact, Ramaiah Muthyala, the founder of Indian Organization for Rare Diseases (IORD) claims that in India, support groups for rare diseases is confined to only 0.02% only.
6. Focus on 400
It is estimated that 98% of rare disease patients/survivors in the world suffer from one of the 400 rare diseases. Hence, it needs to be the top priority for all the rare disease stakeholders. Though India has done away with mandatory clinical trials in case of 'Orphan Drugs', there are no takers even for these 400 top priority diseases as they don't see a profit.
 |
| Ramaiah Muthyala, IORD founder |
7. Compulsory CSR funding:
In 2013, India amended the Indian Companies Act directing profit-making companies to mandatorily spend 2% of average net profits on some public or social cause. The government must ration this CSR spending so that there is some visible spending on rare disease cause.
8. Unity is Strength
If all the 7000 rare disease survivors speak up individually, it may not cut ice as no one wants to listen to the unorganised voice. "No doubt, your son or daughter cause is important but unless we speak as one voice, this battle can't be won," said Ramaiah Muthyala.
.
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