Of interest:
Thought rare, cystic fibrosis now rising in India
Issue Date: May 1, 2006 issue, Posted On: 5/4/2006
By Paul Imbesi
Cystic fibrosis, an incurable, fatal genetic disease, was once believed to be extremely rare in India, but new research shows that the country may have the most cystic fibrosis patients in the world.
That’s according to Cystic Fibrosis Worldwide’s program director, Christine Noke, who cited studies of Indian cystic fibrosis patients living in the United States and the United Kingdom. She said one in 40,000 Indians in the United States has cystic fibrosis, and one in 28,000 suffers from it in the United Kingdom.
“So if that’s the case, you’re looking at possibly 100,000 patients in India,” she said.
Currently, there are 100,000 diagnosed patients across the globe, according to Cystic Fibrosis Worldwide. Thirty thousand people with cystic fibrosis live in the United States.
Cystic fibrosis is a genetic disease that causes a person’s body to create unusually thick mucus, which clogs lungs and may also leave a person susceptible to lung infections. This mucus also affects the pancreas by blocking digestive enzymes, which are needed to break down and absorb food, from getting to the intestines.
Cystic Fibrosis Worldwide is an international nonprofit organization that helps people with cystic fibrosis in developing countries and also works with the World Health Organization. Cystic Fibrosis Worldwide works to help those affected by the disease improve the longevity and quality of their life.
Cystic Fibrosis Worldwide was founded in 2003 after the merger between two other organizations — the International Association of Cystic Fibrosis Adults and the International Cystic Fibrosis Association. Cystic Fibrosis Worldwide has headquarters in Worcester, Mass., and the Netherlands.
According to Cystic Fibrosis Worldwide, there are 1,000 mutations of the cystic fibrosis gene, and for a baby to get the disease both parents must be carriers of the defective cystic fibrosis gene. The organization said there are millions of people worldwide who are unknowing carriers of cystic fibrosis. Each time two carriers conceive there is a 25 percent chance that their child will be born with cystic fibrosis, and a 50 percent chance the child will be a cystic fibrosis carrier.
The life expectancy of a person with cystic fibrosis varies. Noke said that for a person born with the disease in 1995 and after, the average life expectancy is 40 years. For anyone born beyond that, the life expectancy average lowers to about 35 years.
Noke said that the average life expectancy in India right now is below six years.
She said it was important to her organization to improve care in India and begin funding cystic fibrosis research in the subcontinent. Cystic Fibrosis Worldwide recently received a $65,000 grant from the Chiron Foundation, an organization that gives grants to medical and health groups, for its work in India. The Chiron Foundation is based in Emeryville, Calif.
Cystic fibrosis is primarily found amongst Caucasians, which is why it was believed to be extremely rare in people of Indian origin.
“Now over one decade, overall, people have realized that it is not so rare or not extremely rare in the Indian subcontinent or in other races,” said Dr. Sushil Kabra, who is working with Cystic Fibrosis Worldwide in New Delhi, India. Kabra was given a grant by the organization 10 years ago.
Kabra, a professor in the Department of Pediatrics at the All India Institute of Medical Sciences, said the first case of the disease was seen at his institute in 1993. He said that he has been researching cystic fibrosis for 12 years.
During this period, Kabra said he has seen over 200 cases of cystic fibrosis, and more cases are popping up.
Kabra said that the cystic fibrosis patients he was seeing were all children with respiratory problems — similar to what he had read about in Western medical textbooks. Then he found out Indian immigrants were being diagnosed with cystic fibrosis and he started to change his thinking: cystic fibrosis may not be rare amongst Indians after all.
“The frequency of cystic fibrosis in the Caucasian population varies from 1 in 2,000 to 1 in 2,500 children, which is very, very high. But in India, we do not know what is the frequency,” he said.
Since Cystic Fibrosis Worldwide began working with Kabra 10 years ago, he has been working with other doctors interested in cystic fibrosis in several Indian cities such as Mumbai, Chennai and Kolkata.
Dr. Raju Khubchandani, a pediatrician with a specialty in lung disease at the Jaslok Hospital in Mumbai, thought that cystic fibrosis was non-existent amongst Indians until about eight years ago. Now he said he has about eight diagnosed patients with the disease and believes that Indian doctors are slow to diagnose it.
“It’s kind of a vicious cycle. What your mind does not know, your eye does not see,” said Khubchandani, who also works with Kabra on cystic fibrosis research in India.
Khubchandani said he believes that the British brought the disease to India, where “cross-pollination” occurred.
Now in Mumbai — a city of 20 million people — Khubchandani said there is only one center that diagnoses cystic fibrosis.
According to Noke, there are multiple barriers that are preventing cystic fibrosis from being properly diagnosed. These barriers are malnutrition, lack of medical care, poverty and the fact that if cystic fibrosis is not detected early in these children, they could die within a year after birth, she said. She added that since many Indian doctors do not know to look for cystic fibrosis, they are sending these babies back home where they could suffer from an intestinal block and die.
Cystic Fibrosis Worldwide is trying to end this by funding Kabra’s research, who is working with Khubchandani and other doctors to find out how prevalent cystic fibrosis is in India.
Kabra said that the first priority is to establish a cystic fibrosis diagnostic test in India. He said he hopes to popularize these tests and make them available across other Indian centers. These tests would result in a database of cystic fibrosis patients across the country.
Kabra’s next step is to identify other doctors interested in cystic fibrosis and train them so they would be able to diagnose cystic fibrosis early and save more lives.
The final step of Kabra’s plan is creating an epidemiological study. Kabra said this study, which would take samples from a person’s skin, would uncover how many people are truly afflicted with cystic fibrosis in India.
“We are very hopeful that, if we can identify more and more persons, then probably it may be helpful in getting out many research activities which may not only be helpful for the Indian subcontinent, but for worldwide — all the patients of cystic fibrosis.”
Noke said that the epidemiological study is important because it provides evidence that there is a problem.
“You can’t lobby a government or actually fundraise for something [unless] you can say, ‘Look, there is a hundred thousand patients being born in this country with this disease. It is a disease that you need to pay attention to,’” she said.
“The big question mark on the genome mapping is India because [cystic fibrosis] is not found in Asia and it’s not found in Africa,” Noke said.
Kabra said his three-step plan for cystic fibrosis will not be as sophisticated, or as costly, as those in the West. But it will be sustainable.
However, Kabra is facing several challenges in his goals. He said cystic fibrosis is not a priority for the Indian government, so funding for projects comes from non-governmental organizations, like Cystic Fibrosis Worldwide.
Kabra added that training Indian doctors is also a challenge, since there are currently so few doctors who are knowledgeable about the disease.
“I can count [the doctors] on my fingers and it is maybe not more than 10 people who are really interested and they have some confidence in dealing with cystic fibrosis,” he said.
However, other doctors are receiving training. Khubchandani and some of the other Indian doctors researching cystic fibrosis went to Southampton, England last December (through the funding provided by Cystic Fibrosis Worldwide) for a week where they were exposed to different kinds of treatments for the disease, as well as how to train their colleagues in India.
Now Khubchandani is preparing for a meeting this June in Mumbai with other Indian researchers to find out what progress has been made since the last time they met in February 2005.
Khubchandani said the June meeting is a chance for the doctors to get together before they meet with the respiratory chapter of the Indian Academy of Pediatrics this November in Delhi. At this meeting, Khubchandani and his fellow doctors will have to convince this academy about cystic fibrosis’ prevalence in India so they can spread their message throughout the country.
One of the issues that they will go over at the June and November meetings is identifying cystic fibrosis “hotspots,” according to Khubchandani.
For example, he said that if two people are found to have cystic fibrosis in one town, that town is identified as a hotspot. Then they can educate and train doctors in that town about cystic fibrosis and keep a database of cystic fibrosis patients.
He said this is important not only for their cystic fibrosis research, but it also prioritizes their resources since they cannot reach everyone right now.
Another issue for cystic fibrosis patients in India is the cost and availability of pharmaceutical drugs.
Kabra said it takes a lot of money to keep cystic fibrosis patients alive, and these drugs are also expensive. Noke had a similar problem with drugs when she was in Delhi, India, last summer.
While she was there, Noke said that a six-year-old boy with cystic fibrosis died, and the drug that could have kept him alive would have been easily available in the United States, for example.
“It could’ve — maybe not extended his life a long period — but it would have given him another year or helped him,” she said.
Kabra and the other doctors are getting a hand from Solvay Pharmaceuticals, a Germany-based drug company that has worked with cystic fibrosis groups around the world.
“Our goal is to establish [cystic fibrosis] as a disease in India which needs early diagnosis and treatment. [Cystic fibrosis] patients suffer and have a poor quality of life,” Susheel Sule, the general manager for Solvay Pharma India Ltd., said in an e-mail. “Our aim is to help diagnose [cystic fibrosis] and then help them to treat these patients and improve their quality of life.”
Sule said Solvay Pharma India funds diagnostic machines that are used for the epidemiological tests for cystic fibrosis. She added that her company is also marketing the product, Creon, which targets the pancreas.
On the optimistic side of all of this, if India does have 100,000 cystic fibrosis patients, they will become an untouched group for clinical drug trials, Noke said.
She said that new drug trials on cystic fibrosis patients in India could lead to new discoveries and eventual eradication of the disease around the world.
She added that cystic fibrosis patients in the United States and the United Kingdom are already using antibiotics, and they have actually built up a resistance to many drugs.
But many Indian patients have never taken any drugs and doctors could get “clear results” from patients to find out which drugs are successful. Noke added that this raises the possibility of not only curing cystic fibrosis patients in India, but around the world.
Noke’s goal with cystic fibrosis research is to find out if India possibly holds the largest number of cystic fibrosis patients in the world. She said other parts of South Asia — Pakistan, Bangladesh and Sri Lanka — are still a question mark in the human genetics department.
“We don’t know what exists there. We could be looking at the largest population in the world sitting there and nobody knows it. So is it important to find out? Yeah,” she said.
Not surprising at all CF was overlooked in India ~ it used to be overlooked in the US and Europe. In fact, it wasn't until the 1930s before they could distinguish between CF and Coeliac.
The Vedic hymns record the name of an enemy people who lived on the Russian steppe in the age before the Vedic speakers migrated and, eventually, descended on India in their primitive chariots. The enemy people were called danawo, and they may have been the Proto-Greek danawoi', who became first Homer's Danaan Greeks (who were the people who actually brought the Greek language to Greece and fought beneath the walls of Troy), and then the Danuna whose likenesses the Egyptians recorded on their monumental friezes celebrating Egypt's existential victories over the Sea Peoples under Merenptah and Ramesses III; and finally, after they settled in the Levant under Egyptian pacification and proselytized to the Jews and their religion, the Biblical Tribe of Dan.
No people has ever had such an amazingly long career arc through the great and sacred literature and monuments of antiquity, and no fewer than four great civilizations.