Strong moms spearhead Fragile battle

For the first few minutes you wouldn’t even notice. Siddharth Lele plays Grand Theft Auto on his laptop like a mean racer, makes precariously stunning card castles and cooks authentic poha at his Pune house.

But as the 18-year-old opens up, you pick up the first signs of a problem from his scrambled speech. Siddharth suffers from the Fragile X (FX) Syndrome, the most common cause for inherited mental impairment like autism and retardation the world over. That is the bad news.

The good news is that Siddharth’s mother Sunita is one of a handful of mothers who have initiated an extraordinarily gritty campaign against a largely unknown but potent enemy which cripples one in 2,500 males and one in 5,000 females worldwide.

After she found out about her son’s condition, Sunita Lele stepped out of her homemaker boundaries, took up a special education course at SNDT five years ago, and went on to set up her own school for children with learning disabilities in Pune.

“FX children need individual attention. IQs and behavioural patterns differ from child to child and thus each one has to be handled differently,” she says.

Life is not easy for the FX children or their families. Extreme behaviour and hypersensitivity taint their everyday life. The whistle of the pressure cooker might be a roaring thunderstorm to their ears or warm water might burn like hot oil. Sheetal Kapadia (name changed) is the other affected mother who is working against the abysmally low awareness in India about Fragile X. Her son Vivek was fortunately diagnosed for FX at 18 months. So he can now speak crisp English, swim and go through most other activities fairly easily.

“When I discovered my child had FX, I found that there was little information available. I contacted the National Fragile X Foundation in the US and got some material. I became their resource head,” says Kapadia. Today, Sheetal heads the Society of Fragile X in India. She coordinates workshops and helps families deal with FX children. She is organising a three-day conference in January 2007 on Fragile X for the first time in India with professionals from the Medical Investigation of Neurodevelopmental Disorders (Mind) Institute. They are the global pioneers for Fragile X.

But a lack of awareness and facilities have ensured that FX children have suffered enough. There are cases of children who are 12 and still don’t speak. And people awareness apart, the greater obstacle is awareness among doctors.

Dr Vibha Krishnamurthy, developmental pediatrician at Jaslok Hospital says, “Peoples’ mindset is like a black hole. Greater awareness is needed. Fragile X syndrome is a growing concern. Despite typical symptoms and a genetic history, a boy was diagnosed for the first time with Fragile X by me at 18. I alone have 10-15 cases of Fragile X and I’m sure other pediatricians too have cases. The problem is that no one looks for Fragile X. What the mind does not know, the eye does not see.”

Kalpesh Patel from Baroda bears the burden of ignorant doctors. Both his 13-year-old daughter and 11-year-old son are Fragile X children. He laments, “Within eight months of my son’s birth we realised something was wrong. The same happened with my daughter, but doctors here couldn’t diagnose it. They said my children were mentally retarded. Here in Gujarat, there is no awareness, even the doctors don’t know of Fragile X. Only children who have gone to Mumbai or Delhi for examination have been diagnosed correctly.” They now study in a regular school where there is only one class which caters to children with any sort of learning disability.

Fragile X can be determined in the womb. But the test is strangely not prescribed by gynaecologists, even to those who have a history of mental illness in the family. Even if the syndrome is detected soon after birth, appropriate steps can be taken to rear the child. “Early detection in a child opens up a lot of options. They can lead relatively independent lives and can be trained in a vocation even. Though the test shouldn’t be compulsory for all pregnant women, it is necessary to consider family history and get the test done,” says Krishnamurthy.

There are not more than 10 known testing centres in India which can confirm Fragile X. Ironically, this test can be done free at the city’s Jaslok Hospital as part of a research programme, but few know about the facility.

Families of Fragile X children need counselling. Though both men and women can be carriers, it is predominantly the mothers who pass on the syndrome. This makes Krishnamurthy more cautious. “There is a lot of blame and guilt involved. Most times the family blames the mother or the woman spontaneously suffers from guilt. We have to be careful about the way we put it across to families and ensure that they are counselled to accept and deal with FX.”