CF – A rare disease? May be not..


CF – A rare disease? May be not..

I am not buying the notion that Cystic Fibrosis is rare in India. I can leave it with a tag of “under diagnosed” , but certainly not attribute it, the rarity its lurking in. CF in Indian immigrants is diagnosed both in US and UK with incidence of one in 28,000 and 40,000 respectively. CF World wide studies reveal that 1 in 10000 Indians is a CF manifest.    Oh boy! that is 3000 CF babies a year and that definitely makes India the largest country with CF .  Now what is rare with CF in India is, that it being diagnosed properly. Only this explains my child’s Double delta 508 with me and my spouse not even close to being related but also that we come from two different states.  This  incident certainly cannot happen with rare diseases( unless there is a supernatural element involved ).
Why is it so hard to diagnose CF? With India hosting mal nutrition from long long time, the newly added problem of pollution, I guess keeps doctors guessing off the mark. To top these woes, diagnosis tests are hardly accessible or pocket friendly.  Only the top cities have the sweat test facility and  genetic tests are offered by a couple of big hospitals. A hefty amount of 30000 ₹ has to be shelled out for a genetic screening of 50 odd mutations. That’s bad enough.
Doctors on seeing a kid with under or mal nourishment and respiratory problems in India do not zero in on CF immediately cause they still think CF to be non existent in India. I literally went through 6-7 doctors hinting them that my sons problem could be more than a coincidence. All of them assured me that it is not CF. A geneticist whom we consulted even wrote a note back to my pediatrician that my child can not be a CF and never went forward with the genetic tests she is supposed to forward to a laboratory in Delhi. We had to go to a different geneticist to send the blood samples to Delhi where it came positive for double delta 508. So strange was my sons diagnosis. We only got him tested for dd508 cause we were by then sure that I was a carrier as my sister US is diagnosed to be one. Thankfully my son’s doctor did not wait for the test results to put him on creon . Soon after my kid had a rectal prolapse, he confirmed us the most dreaded news and started him on pancreatic enzymes.
If educated middle class parents go through this much confusion, god knows what uneducated and poorer class parents would be going through.

It is high time government/hospitals spread awareness amongst citizens of India about CF and slash down the unbelievable prices attached to the diagnosis and most importantly get the medicines to India.

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