A city girl has rare syndrome called MYH9 (myosin heavy chain 9) which is a genetic condition caused by mutants in MYH9 gene, and is observed for the first time in India, according to doctors at CMC, Vellore.
There are four varieties in MYH9 syndrome and Aishwarya Menon from the Birla junction area has Epstein variety syndrome. This syndrome causes deafness since childhood, leads to severe kidney problem and heavy drop in platelets count while the platelets size is large.
Her acute problem was noticed when she had heavy bleeding and became anaemic during July last, her mother Geetha Menon said. Different types of treatments were given and during an acupuncture session the therapist urged Aishwarya’s parents to consult a doctor about clots on her hands and later blood test revealed a high-level of keratin, low count of platelets and high BP. Treatment given here for platelet count saw it dropping further and she was rushed to CMC where tests revealed the rare syndrome. She was prepared to undergo dialysis which she does regularly on her own. Her mother would donate one of her kidneys and the surgery would be performed at CMC later this month.
The doctors would follow the plasma phorisis process (filtering plasma from blood) and equipment is being ordered exclusively for the surgery.
At three-and-a-half years of her age her parents found that she cannot hear properly, by the time she entered 10th class she has to use hearing aids and became totally deaf in her left ear and since July she is on dialysis, thrice a day and she does it on her own.
Topper in studies
In spite of all these physical problems, the 19-year-old Aishwarya Menon has been class topper since first standard. She completed her BBM from GITAM School of Management and shows her acumen in handicrafts also by preparing beautiful artificial ornaments.
“She doesn’t like to be No. 2 in the class. She faced some problems while in BBM but her classmates helped her out. Internet and facebook are really of a great help to her. I always tell her that technology keeps improving and a solution would be found for her problems,” Ms. Geetha said.
Mr. Girish, an executive with a fisheries firm, and Ms. Geetha, who runs a beauty clinic, would take care of Aishwarya’s hearing problem after her kidney problem is solved.
With donation of kidney by her mother, the girl will undergo surgery at CMC
