At that time, Aqilah was already hospitalised to treat the hole in her heart. She was less than two months old.

“The doctor also initially suspected she had Turner Syndrome based on her facial features,” the 38-year-old housewife from Bukit Beruntung, Selangor told FMT. This is a genetic condition where a female is partially or completely missing the X chromosome.

Instead, a subsequent genetic test revealed that it was Noonan Syndrome – a genetic disorder that can cause a range of distinctive features and health problems such as restricted growth and congenital heart disease.

It was the last thing that Azneena expected to hear. She fell into a depression, exacerbated by the fact that her mother had just passed away. “At first, I went into denial, and I just didn’t know what to do,” she recalled.

Special, small, and mighty

However, encouragement from her family members gave her the strength to accept the situation. She also looked for patient support groups in Malaysia but was unable to find any, so she started researching about the disease.

Today, Aqilah is a beautiful eight-year-old, although one may initially think she is younger due to her smaller frame – she only weighs 11kg.

According to Azneena, she enjoys going to school, where she attends a special class under the “Program Pendidikan Khas Integrasi”.

Although she has not mastered the alphabet yet, she likes to draw, including simple sketches of her mother. To build her confidence, Azneena encourages her and celebrates every milestone.

A good natured and naturally friendly girl, she gets along well with her friends and siblings – an older brother and younger sister who are 13 and six years old, respectively.

“If she knows that I am going out, she helps to prepare my ‘tudung’ and shoes,” Azneena said, adding that Aqilah enjoys helping her mother in any way she can.

The little one is also remarkably observant of her surroundings. “For example, if I lose my keys, she knows exactly where I put them,” the proud mother said.

However, the journey has not been smooth sailing for Aqilah. In 2020, she underwent surgery to close the hole in her heart at the National Heart Institute (IJN) in Kuala Lumpur.

According to Azneena, she falls sick easily and in July last year, she developed tuberculosis, although the rest of the family tested negative.

Currently, the doctor is monitoring her progress before starting her on hormone growth medication. She goes for check-ups once every six months at the University Malaya Medical Centre (PPUM) as well as annual check-ups at IJN.

She has also attended one occupational therapy session. “When the pandemic hit, her follow-up appointment was postponed. I was then advised that it is not urgent because she seemed to be doing okay.”

Thankfully, Azneena had earlier accepted the doctor’s advice to register Aqilah as a Person with Disability (OKU) to help reduce their financial burden.

“Although I was initially reluctant because it meant that my daughter would be classified as a disabled person, the OKU card has been really helpful,” she said, adding that her husband runs a small construction business.

For example, she shared, she is not required to pay for the check-ups at PPUM. Additionally, she receives a discount for Aqilah’s heart surgery and financial assistance through zakat aid.

Admittedly, it has not been an easy journey for Azneena either, but she finds the motivation when she sees her daughter’s tenacity to live.

“At the end of the day, I just want her to be healthy. And I want her to believe that she is capable of achieving anything, even though she is small in size.”

Better implementation

FMT spoke with Dr Ngu Lock Hock, consultant clinical geneticist and head of the Department of Genetics with HKL, for his insights into improvements that can be made for patients with rare diseases, namely those with Noonan Syndrome.

“With proper simulation, training, rehabilitation and education, [patients] can be functional and fairly independent,” said Ngu, who is part of the national rare disease committee set up by the Ministry of Health.

According to Ngu, the “early intervention programme” at “Pusat Pemulihan Dalam Komuniti” (PDK) is a good initiative by the welfare department.

“It’s a community-based rehabilitation programme for the disabled. However, in my opinion, the number of these centres are not enough, and they also need to be closer to the communities,” the 51-year-old shared.

The programme is free and activities like sports, motor skills, and vocational training are regularly held.

“Although the system and policy are good, the implementation can be improved. With a higher budget allocation, there can also be more staff and equipment [at these centres]. This would be very beneficial to rare disease patients.”

For now, Aqilah is living life with gusto, grateful for her family and everything else that life has to offer her.