BFM 89.9

HIGHLIGHTS 
Podcast  >  Bigger Picture  >  Health & Living  >  Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist | Yap Sook Yee, Parent and SMA Advocate

21-Aug-24 16:00

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

For a family of a child with spinal muscular atrophy (SMA), life could be divided into moments of Before and After. Before refers to the period when the parents were expecting their child and before he/she came to be diagnosed with this genetic condition. After, of course, heralds how life changed following the diagnosis. In both periods, families have very little knowledge, information and guidance related to SMA, whether in terms of prevention through genetic screening, or navigating the journey of lifelong support and interventions. In conjunction with August being SMA Awareness Month, we speak to Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist and Yap Sook Yee, Parent and SMA Advocate, on the realities of screening, diagnosis and preparing for the journey ahead. 


Image credit: ap Sook Yee & Edmund Lim

Produced by: Tee Shiao Eek

Presented by: Tee Shiao Eek


This and more than 60,000 other podcasts in your hand. Download the all new BFM mobile app.

Categories:  wellnessmanaging diseasemedical advances

Tags:  orphan drugthe bigger picturehealth and livingspinal muscular atrophyrare diseasedisabilitygenetic diseasegenetic testing





Play / Pause

Listen now : Talkback Thursday: What was a moment that made you first realise you...

Today’s Shows



6:00 AM

The 6AM Stretch

Thought-provoking discussions on ideas, people and events shaping our lives.

7:00 AM

World Market Watch

Tony Nash, CEO, Complete Intelligence tells us where international markets are heading.

7:15 AM

Morning Brief

We recap global and local headlines from today's papers and portals.

7:30 AM

Morning Brief

Michael Chang, Head of Investments, Eastspring Investments Bhd gives us an outlook on Asian equities.

7:45 AM

Morning Brief

Delren Douglas, President of AGECOPE talks about the new Elderly Action Plan 2026–2030.

8:00 AM

The Breakfast Grille

Tan Sri Nazir Razak, Chairman of the ASEAN Business Advisory Council 2025 shares his views on navigating Southeast Asia’s economic uncertainty.

8:30 AM

Morning Brief

Andrew Chan of the Malaysia Semiconductor Industry Association discusses Budget 2026 expectations.

8:45 AM

Morning Brief

Dr. Benjamin Barton of the University of Nottingham Malaysia discusses UK-India bilateral relations.

9:00 AM

Opening Bell

(REPEAT) Tony Nash, CEO, Complete Intelligence tells us where international markets are heading.

9:15 AM

Opening Bell

(REPEAT) We take a look at the FBM KLCI as well as regional capital markets.

9:35 AM

Ringgit & Sense

Siew Yuen Tuck, co-founder of Ringgitplus talks about some findings from RMFLS 2025.

10:05 AM

Open For Business

Umar Abdul Aziz, Co-Founder, Mokky’s Pizza, shares his journey from a humble roadside stall to five thriving outlets in just three years.

11:00 AM

Tech Talk

Jan Wong, Founder, Open Minds, on Malaysia’s Martech Digital Edge.

12:00 PM

Enterprise Explores

Dr Sivapalan Vivekarajah & Ng Sai Kit share expectations/wishlist from tech startup & semicon ecosystem ahead of Budget 2026.

1:00 PM

The Breakfast Grille Repeat

Our flagship show, we feature both game-changers and groundbreakers in the hot seat.

2:05 PM

Discovery Hour

An eclectic selection of BBC shows, curated with variety in mind.

3:05 PM

Beyond the Ballot Box

We speak to Dr Lee Hwok-Aun from the ISEAS-Yusof Ishak Institute about the good, the bad and the ugly of the government’s Budi95 fuel plan.

4:05 PM

Health & Living

Caring for patients with serious or terminal illnesses is not an easy feat. We speak to a palliative care nurse about her profession and why the role of nurses is vital in palliative care.

5:00 PM

Top 5 at 5

6:00 PM

Talkback Thursday

What was a moment that made you first realise you were getting older? And how do you feel about ageing?

8:00 PM

BBC World Service

Why are some animals black and white in colour? This episode of Crowd Science dives deep to find the answers.