Aussie mum's emotional journey to help son with rare disease diagnosis

Image/Supplied
Image/Supplied 

When he was 10, Raewyn and Lionel Armstrong's son, Jacob, was diagnosed with a rare Spinal Muscular Atrophy and told his life expectancy was short.

"The doctor said 'he'll be in a wheelchair in his 20s and it will be amazing if he lasts until his 30s or 40s," Mrs Armstrong tells Essential Kids of the moment their lives changed forever. 

According to SMA Australia, Spinal Muscular Atrophy (SMA) is a condition affecting the muscles involved in movement, which progressively weaken and become wasted (atrophy) over time.

Image/Supplied
Image/Supplied 

"This includes the muscles involved in general movement, swallowing and breathing. It is caused by the loss of specialised nerve cells called "motor neurons", which are controlled by the brain and allow for muscle movement."

Mrs Armstrong, who is the mother of four boys, says signs of the rare condition started early.
"He was just a bit different," she recalls of Jacob, who is now 26-years-old. "But the doctors kept saying he was just clumsy." Jacob was slower to walk than his brothers and would often fall over when the "active" family were out and about.

It wasn't until the Perth mum was herself diagnosed with Hodgkin lymphoma, after consulting with numerous doctors, that she realised she needed to push harder to find out what was happening with Jacob.

"I was determined," she said. "I thought, I'm not going to let his go anymore. Something's not right."

When a muscle biopsy came back positive for SMA (Type 3), Mrs Armstrong says she was in disbelief. "I thought, I don't know if this is right? Maybe I was in shock."

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She and her husband Lionel were told the condition was so rare there were only around 10 others in Australia with the same diagnosis. It was around this time Julie Cini started SMA Australia which was Mrs Armstrong's first contact point thanks to the internet.

"Even now there's still a lot of conditions that doctors don't even know about," Mrs Armstrong says.

For Jacob, coming to terms with the diagnosis and its impact on his life has been a challenge. 

"Everyone seems to be different and handles it in different ways," she explains. "My son went through a long stage of depression. He wasn't ready to talk about it. When he sees his other friends and can't do what they're doing ... it's hard."

And while he's relatively independent at the moment, Mrs Armstrong says Jacob suffers from constant fatigue and some mobility issues which have affected his ability to work and study. 

"He's recently found a neurologist he really likes and he's going off to do some further testing. When he was little we had him at the neurologist but they really didn't know how to help him at all. Jacob was really educating them about it."

Having walked the path alone for years, Mrs Armstrong is passionate about ensuring people have the information they need and spreading awareness around the condition.

She's now an ambassador for The Loop, a recently-launched Australian support network, which is dedicated to uniting Australia's neuromuscular community. Its aim is to help families, like Ms Armstrong's navigate the diagnosis and provide them with ongoing information and support. 

Mrs Armstrong believes the new community will be a game changer for those who find themselves facing a similar diagnosis, or parents caring for children who are affected. 

"When we found out with Jacob it was doom and gloom," she says, explaining that there was very limited information and support.

She also recalls one moment when she realised Jacob had been doing his own research. "We were sitting around as a family talking and he got so angry about us talking about the future. He said 'It's OK for you. I won't even live until I'm 40. He never shared that. He had been keeping it to himself."

Mrs Armstrong says the personal stories on The Loop with people living and thriving with the condition will also help others.  "Sixteen years ago we had nothing," she says.

The mum urges other parents grappling with the diagnosis to "be kind to yourself. Because it's genetic ... you do sometimes feel like you're to blame. Be kind to yourself."

Find more information about The Loop here