‘Don’t feel sorry for the patients — they need support, not pity’

Experts, parents of Rett patients join hands against society’s apathy towards the condition.

KARACHI: About four years ago, when Sana Kashif’s daughter was diagnosed with a rare genetic disorder called Rett Syndrome, her life came to a standstill. Fearing she would be dejected and scorned by society, Sana chose to live a secluded life for the first few months. As time passed, however, she realised there was more to her daughter than met the eye.

“I realised I could not punish my child for her condition by hiding her from the world,” she explained. Hence began an emotional journey of one mother who refused to give up on her ailing child. Using social media and the internet, she reached out to doctors across the world in an effort to find more information about her daughter’s condition.

The Ko-ordination Group, in collaboration with the Rett Syndrome Pakistan and the internationally recognised Blue Sky Girls project, organised a seminar at the National Museum on Thursday, aimed to educate doctors, paediatricians, medical practitioners and the general public regarding the condition.



Speaking at the occasion, Prof Dr Syed Ather Enam, a neuorosurgeon at the Aga Khan University Hospital (AKUH), revealed that Rett Syndrome was one of a group of disorders, called Pervasive Developmental Disorders (PDD). These disorders are known to be caused by the imbalance of chemicals in neurotransmitters - mainly serotonin and dopamine.

“Unfortunately, there is no known cure for these disorders yet. Studies, however, have shown promising results in mice which could be basis for future curative treatment,” said. Currently, the treatment for Rett Syndrome is based on four tiers - physiotherapy, diet and feeding tubes, speech therapy and anti-epileptic medications in case of seizures. These therapies, when applied successfully, can help with the symptoms and make life slightly more bearable for the patients, he said.

All is not lost

Rett Syndrome Pakistan’s founder and the mother of a patient, Kashif, presented a contrasting view of the disease. “Dr Ather explained to you what these children lack. I will share with you what they have,” she smiled. Kashif explained that the most important thing for these patients was to make them feel accepted. Studies have shown that neurons can be developed in these patients with progressive efforts. “The point is to make them feel inclusive. Don’t feel sorry for them. Get up and do your job as parents. Allah will take care of the rest,” she remarked.

The most remarkable feature about a Rett patient is her expressive eyes, according to Kashif. “Though they cannot speak verbally, you can understand what they are trying to communicate by looking into their eyes.” Speaking about her experiences as a mother, she lamented that Pakistani society lacked sensitivity and understanding and did not accord the respect children with disabilities deserved. “I have often wondered how we, as Muslims, can be so insensitive towards these children,” she lamented. She stressed that children with developmental disorders must not be rejected by society - rather they must be included in all activities and treated as normal children. “My child cannot speak but she can understand what you say,” she added emotionally.

She ended her presentation with a quote that summed up her feelings as a mother and her efforts: “I thought I would have to teach my daughter about the world. Turns out, I have to teach the world about my daughter. They see a girl who cannot speak. I see a miracle that needs no words.”

Dr Ghaffar Billoo, the head of paediatrics department at the AKUH, stressed for more understanding of these disorders, not just for paediatricians and medical practitioners, but also for society in general. “Children, in general, crave for attention and affection. Such feelings are all the more pronounced in disabled children, though they cannot communicate their feelings.”

What is Rett Syndrome?

Rett Syndrome is an X-linked neurological disorder, presenting similar symptoms to those characteristic of autism.

It almost exclusively affects girls and is found to be preavalent in about 1 in 10,000 girls. Though the condition is genetic, it is not hereditary, which means that parents may not know their child is suffering from the condition until the symptoms start revealing between six to 18 months of age. The patient plateaus in development or growth and may have limited mobility and breathing problems. The symptoms, although varying in severity from one patient to another, are so rigorous that around 99 per cent of Rett sufferers cannot speak, while at least 50 per cent of them will never walk.

Published in The Express Tribune, November 1^st, 2013.