“Giving up isn’t an option” Read how Ng’s children overcame a rare genetic disorder

Have you heard of Tyrosine Hydroxylase Deficiency before? According to the US-based National Organization for Rare Disorders (NORD), it is a genetic disorder that is characterized by a broad spectrum of symptoms, ranging from mild movement disabilities to life-threatening neurological dysfunction.

As for Ng’s children, they suffer from hypotonia, a condition that renders them unable to control their movements, resulting in a limp body posture due to low muscle tone. Ng’s son, who was born in February 2013, was the first to exhibit signs of this disease, which crushed the hopes and dreams he and his wife had for their child. “When we realised that he wouldn’t be able to achieve the “milestones” like other babies do (walking, crawling, etc.), we were devastated,” he said.

Wanting to find out the reason behind his son’s condition, Ng sent him to the Selayang Hospital in October to undergo an MRI scan and chromosome test. However, he was given a clean bill of health, much to Ng’s astonishment.

---

---

“Even though the results did not detect anything amiss, we were referred to Hospital Universiti Kebangsaan Malaysia’s (HUKM) Paediatric Neurology Department for further tests.”

“That was when everything went downhill.”

After Ng, his wife, and son underwent a series of blood and nerve conduction velocity (NCV) tests, the doctor broke them the news they never thought they would hear in August 2014 – their son had, at best, only two months left to live.

“The news shook us to the core. I could not concentrate on my work and found it hard to give it my best. After some painful deliberation, I decided to quit my job to stay with my son and take care of him in his remaining years.”

Although Ng was comforted with the arrival of his daughter in November 2014, he and his wife soon realised that their worst fears were becoming a reality as she was showing the very same symptoms her brother had.

Fearing that their daughter would suffer the same prognosis as her brother, the couple decided against consulting the doctor at HUKM and instead sent them for daily physiotherapy sessions.

“Every day, we prayed that a miracle would happen in our children’s lives. And it finally came in the form of a friend, who was a doctor himself,” said Ng.

“He told us that the possibility of a genetic disorder being the reason for our children’s condition was rather high and advised us to consult Dr Ngu Lock Hock of General Hospital KL (GHKL).”

Ng also praised Dr Ngu’s professionalism in explaining his children’s condition and laying out the prerequisites of a genome test, which would help in providing a more precise diagnosis. Ng and his wife immediately agreed for the test to be done, knowing that it could be their best shot in giving the children a better life.

---

---

“July 23, 2018. It will be the one date that will forever be seared in my mind. It was also the start of my children’s journey to recovery,” recalled Ng.

Ng’s children were formally diagnosed with Tyrosine Hydroxylase Deficiency, a disease caused by the lack of dopamine, a neurotransmitter that is naturally produced by the body to regulate body movements.

“According to Dr Ngu, my children had a good chance of overcoming this disorder as long as they take their medication regularly and undergo consistent physiotherapy treatment. This news brought much relief to my wife and me.”

Two and a half years later, Ng is happy to report that his children’s condition has improved significantly since the official diagnosis, wowing many physiotherapists at the Cheras Rehabilitation Centre.

“My son can now sit and claw well, whereas my daughter can walk steadily but still has slight trouble speaking. She has also started attending kindergarten classes.”

Furthermore, Ng can finally focus on being a tax consultant, the job that he had to walk away from a few years ago.

Ng also paid tribute to Dr Ngu and his team for providing much-needed guidance and care for his children.

“We couldn’t have come this far without their help. We also believe that no matter the circumstance, giving up is not an option.”

Do you want to lend your support to families like Ng’s who are suffering from rare diseases? You can do so by joining PBCUM’s “Buy Happiness” Donation Drive! It ends on June 15 2021, and all funds received will be used to provide aid for the rare disease community.

Check out their Facebook to know more!

---

WeirdKaya is having a giveaway!

---

Sources: Committees of PBCUM35

Editor: Raymond Chen
Proofreader: Sarah Yeoh