Young Couple Campaign for Pre-Pregnancy Screening of SMA

Young parents Rachael and Jonathan were understandably over the moon after their daughter Mackenzie’s birth but a routine check-up at 10 weeks showed that their little girl was showing signs of floppiness and further testing was required.

MORE: Five treatments to help manage SMA 

The couple from Sydney, Australia was devastated to discover that their beautiful little girl had severe spinal muscular atrophy (SMA), a progressive genetic condition where the muscles in the body waste away.

There is no cure for SMA and with severe forms (type 1), babies develop respiratory and swallowing difficulties and often die before their second birthday.

Knowing they don’t have much time left with their daughter, Rachael and Jonathan are determined to make the most of Mackenzie’s young life and create as many happy family memories as they can. They’re also working hard to raise awareness of the condition, since few people know about it.  So far, the family has visited zoos and their local aquarium and had a family holiday courtesy of the charity Starlight Foundation, according to a report on sun.co.uk.

Whenever Mackenzie is awake, she is the sole focus for her parents who want to savor each precious minute. However, when she sleeps, the couple is also campaigning for a screening process that would allow parents to make informed decisions about their future family plans.

MORE: Cure SMA releases its 2017 SMA drug pipeline

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.