Facing up to genetic disorders

YOU'RE a parent and your ten-year-old daughter seems to be struggling to hear, almost as if she's going deaf in one ear. A month later, she seems to be having problems with her balance too. You've brought her to doctors and they can't seem to figure out what's going on.

According to University Malaya Medical Centre consultant paediatrician and clinical geneticist Prof Dr Thong Meow Keong, it could be time to consider a genetic disorder.

I met him at a World Neurofibromatosis (NF) Day event organized  last Sunday by Works of Gratitude, a non-profit foundation aimed at supporting people living with the three forms of the genetic disorder, NF1, NF2 and Schwannamatosis, and he had some words of advice.

Basically, Dr. Thong said that if we or someone we know is experiencing a medical condition where the diagnosis given by the doctors is not clear, a genetic disorder should be considered.

He used NF, which is a neurological disorder as an example.

"A condition such as NF can attack the brain, the eyes, the ears and so on. When you have something causing effects in multiple systems in the body, then you should get a second opinion to see what is happening," said Dr. Thong.

Dr. Thong added that if the patient is seeing a general practitioner they should discuss their symptoms with their doctor, and if their doctor is unsure, they should get a referral to see a genetics specialist to get a second opinion - and that Universiti Malaya Medical Centre and Hospital Kuala Lumpur had such specialists.

He added that a genetics specialist would be able to provide the right diagnosis and link a patient up with the right medical specialists for the genetic disorder.

And from my experience assisting someone living with NF2, I can attest to that personally as my partner relied on a diverse team through her life ranging from physiotherapists to neurologists and neurosurgeons, right up to palliative care specialists to address the various challenges her genetic disorder threw her way.

And in parting, Dr. Thong had some advice for me - and indeed my peers in the media.

"The role the media can play is to focus on factual information when reporting on people with genetic disorders. Many in the media like to sensationalise or enhance the story to sell it. There needs to be public awareness," he said.

He pointed out that some TV stations like to focus on members of the family crying.

"The media should try to get away from this negative sensationalisation and give hope to those living with genetic disorders - that there is something that can be done. They don't need to stay at home, left alone to fend for themselves," he said.

The need for awareness was also impressed upon me by Malaysian Rare Disorders Society (MRDS) president Datuk Hatijah Ayob.

She said this was beneficial for both patients and doctors.

"When it comes to rare disorders, there are many in the medical community who have not seen these disorders, so they may miss out on the diagnosis. If patients are wrongly diagnosed, more problems will be created for them, including more disabilities. This is what we hope to present," she said.

And this is why I'm on board when it comes to supporting those living with genetic disorders, and this is why I'm putting forward their call for support this week. Because at the end of the day - they're people too. They don't need our pity. They need our respect and mutual support.


> The views expressed are entirely the writer's own.

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