Rett Syndrome Pakistan: For a condition that isolates a child, one mother starts reaching out

Girls with the condition can’t walk or talk in many cases.

Express October 16, 2011

ISLAMABAD: Four-year-old Ayza, with her two ponytails and neatly ironed bright red dress, sat calmly in her aunt’s lap. But for this little girl, the calm demeanour wasn’t optional - it was a compulsion of sorts. She has Rett Syndrome, a genetic condition which imprisons the young mind in the body, leaving the child unable to walk or talk.

The condition, which is linked to the MECP2 X-chromosome, affects mostly young girls but boys can be born with it too. There is a higher probability for girls, simply because they come into this world with two X-chromosomes, instead of one as in boys. It can sometimes be misdiagnosed as autism or cerebral palsy.

Rett, a neuro-development one on the Autism spectrum, is one of over 7,000 genetic conditions and there is no cure for it. But Ayza’s doctors are hopeful that before she turns 10, there may just be a breakthrough that thousands of parents are praying for worldwide. Clinical trials for a treatment have begun in the United States and the Rett Syndrome Research Trust has been working aggressively, performing tests and studies on thousands of girls, including Ayza.

Ayza and her mother Sana Kashif, the founder of Rett Syndrome Pakistan (RSP), are thus not alone in a fight to spread knowledge of the condition that is found in one in 10,000 girls. In fact, according to RSP, every two hours, a girl is born with it. That means 19 girls every day.

“It’s like living your life bound and gagged,” said Sana, last week at the first ever Blue Sky Girls seminar to spread the word.

Sana discovered her child had Rett when she was one year old. “Ayza wouldn’t walk or babble like other children her age and I started to get worried. Many people told me that I was paranoid but I went from paediatrician to paediatrician who gave me a list of conditions but I wasn’t convinced.”

As an MBA from a reputable institution in Karachi, Sana put her skills to work by doing some research on her own. The power of Google, is how she put it. “I read up on many disorders, then, when I began researching on disorders branching from Autism, I came across Rett Syndrome,” she said. “I prayed to God that wouldn’t be what Ayza had.” Around the same, a doctor also proposed a similar diagnosis and from that day began Sana’s struggle to help her daughter and thousands of others like her have the information they need to know.

“Many parents do not know or realise what is wrong,” explained Dr Bushra Afroz, a consultant paediatrician and clinical geneticist at the Aga Khan University Hospital. “But this isn’t necessarily the parents’ fault. There are some things that we have learnt about the disorder but there also remain dark areas which we have yet to discover.”

From what doctors do know is that in many cases of classical Rett Syndrome, the child’s linear growth starts declining by two years of age. By four years, their head’s circumference tends to fall two sizes smaller than the standard. Later, height also falls by two sizes.

A child with Rett will mostly communicate through their only window to the outside world, their eyes. They will most likely have intense hand movements, screaming spells and disrupted sleep patterns. Sana has been through it all, still she remains hopeful.

“I can only pray for a cure but even otherwise, I know Ayza was brought into my life for a reason,” said her mother proudly. “Other parents need to learn the tolerance, love and patience these children bring out in us.

Four clinical stages of classical Rett Syndrome

Stage 1

Onset: six months to 1.5 years

Duration: weeks to months

Developmental delay, postural and motor delay

Disassociate / disordered development

Bottom shufflers (tend to move around using hips rather than crawling or walking)

Stage 2: Rapid developmental regression

Onset: one to four years

Duration: weeks to months

Loss of acquired skills: fin-finger movements, babbles/words, active playing

Mental deficiency, preserved eye contact

Modest breathing problems

Occasionally in another world

Seizures in 15 per cent of the cases

Stage 3: Pseudo-stationary period

Onset: after passing stage 2

Duration: years to decades

Preserved walking ability...non ambulating

Sterotype hand movements

Slow neuro motor regression

‘Wake up’ period (after being aloof suddenly they are more alert)

Stage 4: Late motor deterioration

Onset after cessation of stage 3

Duration: decades

IVA: previous walkers... non ambulating

Source: Dr Bushra Afroz, Clinical geneticist, AKUH

Published in The Express Tribune, October 17th, 2011.


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