Poor diagnosis leaving many girls short on height

Surabhi (not her real name) was way shorter than girls of her age. A doctor who examined her told her father: “Just feed her enough and she will grow.”

Years passed, but no amount of food or fluids would help. A doctor then suggested she do skipping every day. Another physician recommended swimming and eating well to ensure weight gain. A third physician said the usual diet wouldn’t work and put her on a high protein diet.

Her family went into overdrive to feed her. One day, she was fed so much that she would not stop vomiting. “I was gasping for breath as I had stuffed myself so much,” Surabhi, now 14, recalled.

But nothing seemed to work. In a desperate attempt, the family decided to shift from West Bengal to Bengaluru for treatment. And it was in the city that Surabhi was finally diagnosed with having Turner Syndrome. Turner Syndrome is a chromosomal condition that affects girl children. Its most common feature is short stature.

Surabhi and her father attended the Turner Syndrome Conference organised by the Magic Foundation, India, here on Sunday.

“We consulted six doctors and spent over Rs 1.5 lakh before coming here. The protein shake that the doctor gave costs Rs 580 for 200 grams,” said her father, a farmer.

The family has rented a house in the city for Rs 250 a day and spends another Rs 1,100 for each injection per day.

Dr Santhosh Olety, an endocrinologist at the Karnataka Institute of Endocrinology and Research, said an element of gender bias existed in the treatment since Turner Syndrome affected only girl children.

“While short height is a clear sign, many parents do not bother about the treatment. The alarm bells start ringing only the girl does not reach puberty,” he explained.

According to Dr Olety, Turner Syndrome affects one in 2,000 girls but few are diagnosed early.

Dr Olety said that no government scheme covered the Turner Syndrome. “If the patient belongs to the SC/ST or the BPL, free medication is given. Even then, not all diagnostic tests are covered. If the family says they cannot afford the growth hormone, we just put them on fertility treatment,” he said. A monthly dosage of growth hormone costs Rs 20,000 to Rs 30,000.

Symptoms

Stunting

Low weight

Small or swollen toes

Arms turned outward

Webbed neck

Multiple moles

As she grows

Thyroid abnormality

Infertility

No puberty

High risk of diabetes or heart problems

Bowel disorders

Bringing focus on Turner Syndrome

Ishani, a 20-year-old US citizen of Indian origin, won a cash prize for a college project on Turner Syndrome. When she posted details of her project on Facebook, she was flooded with calls from Indian mothers who reported about their daughters suffering from the same condition and sought her advice on treatment.

“They messaged me that their daughters are young and that they didn’t talk to anyone about the condition. There were varying levels of concerns and people actually did not know where to go for treatment,” Ishani told DH. She then decided to spend her prize money on creating awareness about Turner Syndrome.