Given a year to live, Swathi has just turned five

 

MALAYSIANSKINI | Service delivery manager K Sivasangaran was blessed with his second child in 2017, a baby girl named Swathi Nisha Nair.

Swathi progressed relatively normal for a baby her age, said Sivasangaran, although he did notice little quirks of hers such as her floppy muscles and her tongue sticking out often.

However, it was not until she was infected with pneumonia at the age of six months that doctors noticed something different about her.

“Any normal child gets pneumonia, really, but Swathi’s was prolonged for almost 10 days. All kinds of treatments in the hospital didn’t work for her.

“It was then a doctor suggested that an X-ray be conducted,” he said during an interview with Malaysiakini.

It was through this X-ray that they discovered Swathi’s heart was abnormally large for someone of her size, and an echocardiogram showed that her heart was only functioning at 25 percent.

It was later uncovered that Swathi had infantile Pompe disease, a rare inherited disorder caused by the buildup of glycogen in body cells.

The accumulation of glycogen in certain organs and tissues, especially muscles, impairs a person ability to function normally.

Symptoms of infantile-onset Pompe disease are typically muscle weakness, an enlarged liver, heart defects, failure to gain weight and breathing difficulties.

Typically genetic, it occurs in one in four children whose parents are carriers of a mutated acid alpha-glucosidase (GAA) gene.

Every birthday a milestone

Following Swathi’s diagnosis, a doctor told Sivasangaran and his wife that their daughter would not make it past a year old.

However, Swathi defied all odds, having celebrated her fifth birthday just a few weeks ago.

“Every birthday is a milestone for us. She has recently begun preschool, so we celebrated her birthday with her friends there. Of course, with Covid-19 we were cautious about it, but to our benefit, the preschool principal agreed to it.

“Swathi really enjoyed her birthday. She may not be exactly aware of everything that happens around us, but she’s smart and understands instructions.

“I definitely think she enjoyed herself, surrounded by her friends. The little princess surprises us every day,” he said.

Sivasangaran said his daughter was diagnosed relatively late for someone with infantile Pompe disease, as it went undetected for the first six months of her life.

“Whatever damage that happened to her body is non-repairable nor recoverable. We do not even know which part of the body has been damaged.

“What we do know is that her heart has been impacted. She also has delayed development and is nonverbal, which we highly suspect is due to the muscle weakness in her body.

“Maybe the damage could have been much less had she been diagnosed at birth. This is exactly why we strive to create awareness about rare diseases, within the medical community and the public.

“Testing immediately after birth will allow for earlier treatment,” he said.

Ever since she was a year old, Swathi has been sent to physiotherapy, occupational therapy, aqua therapy, and speech therapy.

“Initially (she) wasn't able to even sit properly but throughout all these therapy sessions, she has been able to walk. She does have slightly delayed milestones but she's an active and happy child - we see her moving around the house all the time.

“Almost two, three days a week she is being treated but she still goes to preschool. We are glad that a preschool close to our house actually accepted her despite knowing that she has to go to these treatments and therapy often,” he said.

Advocating for govt support

Sivasangaran said treatment for Pompe disease can amount to half a million on a yearly basis.

Currently, Swathi’s treatment is fully funded by the government, however, that was not always the case.

“Initially, she was only partially funded due to a lack of budget. Towards the end of 2017, we were in limbo as the cost of medicine was too expensive.

“However, a non-governmental organisation (NGO) that supports the cause of Pompe disease loaned us the money to begin Swathi’s treatment immediately, which we would then pay back in instalments.

“In the tabling of the 2022 budget, the allocation for rare diseases was increased. However, the budget allocation will always need to increase as each year passes, as the treatment costs for the current recipients will also increase.

“Treatment for rare diseases in children is always expensive, and there are a lot of people on the waiting list. Unfortunately, some have even passed away before they have begun treatment,” Sivasangaran said.

It was the same NGO that loaned him the money for Swathi’s treatment bills that kickstarted his journey into the advocacy of rare diseases.

“My first public advocacy for rare diseases was in 2018 when I climbed Mount Kinabalu, raising funds for the non-governmental organisation that helped my daughter.

“Initially, we targeted about RM20,000 to RM30,000, however, we managed to meet then Health Minister Dzulkefly Ahmad who donated to the cause, which doubled the target amount.

“Personally from experience, I find there is always a way to elevate awareness for rare diseases and it has to be cross-cultural across the bases and with no boundaries.

“This led to the creation of rarediseasemalaysia.com, a website to elevate awareness about rare diseases in the country,” he said, adding that the website is available in English, Malay, Mandarin, and Tamil.

In February 2021, Sivasangaran conducted a mini fundraiser among friends and family, in honour of Swathi, to give back to the community.

A portion of the funds raised was given to a father of a rare disease child, who owned a food catering business.

He catered meals for 100 people to be distributed to the homeless, refugee communities, old folks, and frontliners within the Klang Valley area.

Another portion of the money was used to give back to three lawmakers who helped raised the issue of rare diseases in Parliament, namely Senator Ras Adiba Radzi, Rasah MP Cha Kee Chin, and Batu Gajah MP V Sivakumar.

“In Batu Gajah, we hired a small business owner in the B40 community to cook and serve meals to the orphanages and the old folks' homes.

“In Rasah, we donated groceries in a children’s care centre. We also contributed to a programme for disabled persons which was championed by Ras Adiba.

“It was only after we carried this out that I informed the MPs and Senator of it, as a way of saying thank you to them,” he said.

Caring for the caretakers

Sivasangaran said there are many challenges in raising a child with a rare disease, but the ultimate struggle was taking care of himself.

"It's like how in aeroplanes, if oxygen masks drop, you are supposed to put it on yourself before putting it on your children. The same applies to us, self care and mental health are important.

"I personally involve myself in sports. I was actually obese for many years, but in November 2021 I decided to change my lifestyle. Since then, I have lost about 30kg.

"I realised that I wasn't paying attention to my health. I don't think it is fair to blame Swathi's condition, but it was a contributing factor as I had to focus on her rather than myself.

"However, things have become more manageable now, so I have been trying to find time to focus better on myself," he said.

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