Rare genetic disorder means this girl is always happy

As her mother Souzie Mackay explains, Kimia is a “happy baby”, suffering from a rare genetic disorder called the Happy Puppet Syndrome. Also called the Angelman Syndrome, it is a chromosome defect that causes acute learning difficulties besides issues with speech, movement and coordination.

But on the occasion of International Angelman’s Day on February 15, the Mackays weren’t complaining of lack of awareness about their daughter’s disorder. Rather, they have been celebrating the baby steps she has been able to make in her school.

Last February, the family launched a campaign where Kimia donated her thick golden locks to charity just so that people become aware of Angelman Syndrome – Souzie said she knew only four other cases like Kimia in the emirates. But this time around, the focus is on inclusion and how it makes a difference.

As part of the new ‘Gratitude Stones’ campaign, students of the school were given small rocks to register their sense of gratitude. Souzie said, “It had a two-fold purpose: one, to show that every rock is different, but it’s still a solid rock; and two, you could write something close to your heart on the rock and feel grateful for it. In other words, each one of us is unique, but underneath it made up of the same stuff. Just like the gratitude stones.”

The students wrote many things on the stone, with one even “love for Kimia”, which deeply touched the Mackays. “Kimia loves putting a smile on other’s faces and is so kind,” said another student.

“Our child of determination is at last part of a community and establishing meaningful relationships with students and teachers alike. She is no longer just a tick on a register. We hope we will enable all our children and open a door to friendship, to better understand the differing challenges each of us must face, and progress toward a happy and fulfilling life. We are grateful for finding a truly wonderful form teacher in Julie Hoyland,” said Souzie.

“It’s really important that we have an environment of inclusivity in the school,” said Hoyland, pointing to how the students at Aquila had learnt a lot from Kimia, how to deal with people of determination like her, besides communicating with different types of people, including those who cannot speak.

Our child of determination is at last part of a community and establishing meaningful relationships with students and teachers alike. She is not just a tick on a register.

- Souzie Mackay, Kimia’s mother

She said, “Kimia too gets to learn a lot from her peers and how to socialise with them. She’s made so many new genuine friends and children just love spending time with her.”

Kimia’s dad John Mackay said they realised Kimia, their second child, was slow when she was one. “When doctors diagnosed her with AS, it was a crushing discovery for us. But now, we feel so differently. We understand kids with AS are special with needs and feelings like other children,” he said.

What is Angelman Syndrome?

According to Dr Rajshekher Garikapathi, specialist neurology, Aster Hospital, Mankhool, Angelman Syndrome is a rare neurogenetic disorder that affects chromosome 15, resulting in intellectual and developmental delay. It causes acute learning difficulties besides poor motor milestones and language development. He said, people with this condition are always happy, friendly, loving and sociable because of the genetic disorder. “Depending on the mutation, the severity of the condition varies. In extreme cases, the patient may not pick up verbal language. In some cases, they may present a bigger-than-usual skull size with wide open eyes. They may also suffer from episodes of epilepsy for which they may have to go on medication. There is no cure for Angelman Syndrome but those with the condition are known to survive long.”

He said Angelman Syndrome is said to affect one in 15,000-20,000 people.

International Angelman Day (IAD) is observed on February 15 every year to raise awareness about Angelman Syndrome.