How One Central West Family Discovered Their Daughter Had A Rare Genetic Condition

How One Central West Family Discovered Their Daughter Had A Rare Genetic Condition

One local Mum, Sam Smith has shared her family story about her daughter’s experience with Tuberous Sclerosis Complex, a rare genetic condition affecting children.

What is Tuberous Sclerosis Complex (TSC)?

TSC is a rare genetic condition that causes tumours to grow in any organ of the body.  It commonly affects the brain, skin, heart, lungs and kidneys. TSC can cause epilepsy, developmental delay and autism. It is estimated more than 2,500 people in Australia are living with TSC in Australia. It is estimated that 1 child in every 6,000 births is affected by TSC. There is no known cure, but with appropriate support most people with TSC can live fulfilling lives.

When was your daughter diagnosed?

Almost four years ago, Sam Smith and her husband looked forward to all the milestones first time parents can expect to enjoy in the first year with their baby Isabel. However, their daughter’s life in the first twelve months was very different to what they were expecting. At the age of 6 months old, Isabel’s parents started to notice their beautiful daughter blinked alot for around 8-20 seconds, however family assured us it was normal and they just assumed she was tired and rarely slept. After a few weeks of noticing this was occurring frequently, Sam’s ‘Mum’ instincts kicked in and knew this wasn’t right. Immediately they were referred to a Paediatrician after visiting their GP, who said it was normal in 98% of children, however Isabel started to blink through the appointment and he also noticed a slight twitch in her mouth muscles so he referred them for further testing. Sam recounts, “Trying to get an 8 month old to sit still for the EEG cables to be placed all over her head was an incredibly challenging and stressful day.”

Just under six months later, Isabel was diagnosed with focal epilepsy. The doctors were unsure what was causing this, so they sent her for an MRI and her parents were referred to a neurologist. At this point in time, every phone call from doctors was daunting as they only called to arrange an emergency appointment which resulted in receiving negative news. Just before their daughter’s first birthday Isabel was diagnosed with Tuberous Sclerosis Complex (TSC), a rare genetic disease.

This news was shocking and even the Paediatrician commented he’d never heard of it before, and admitted he had to Google it. He advised Sam and her husband not to, as the articles were outdated and very distressing to read as most articles are based on severe cases; though he did say to go to the TSC Australia website as it provided more hope. From there they were referred to the wonderful team at Tuberous Sclerosis Australia (TSA) who are the only organisation for TSC in Australia, playing a critical role in delivering a wide variety of activities to improve the lives of individuals living with TSC and their families in Australia. This includes support and information services, education events and advocating for research as well as work towards a cure. Each year Sam and her family meet with multiple specialists who understand this rare genetic disease.

In about 30% of the cases, TSC is inherited from an affected parent. In approximately 70% of cases, the person with TSC is the first in the family with the condition. 

Isabel’s genetic condition was caused by a mutation post fertilisation and she is the first one in our family to have it. Sam says “It is unknown if TSC will cause any other neurological disorders for our daughter but we always believe she can achieve anything she wants to in life and her disability will not stop her.”


Each year TSA works with researchers and medical experts to ensure Australian sites continue to actively participate in international clinical trials for TSC treatment advancement to find a cure for this devastating disease. TSA currently have a plan to support an upcoming research project focusing on early intervention to improve outcomes for infants with TSC.

How Isabel is supported and why her family fundraises for TSC each year

Every year, the Smith family love to raise money for TSC as Tuberous Sclerosis Australia provides education, a nurse helpline, fund research and provide a lot of support to families living with TSC. Sam says “We love to garden as it is like our wellbeing therapy where we can bond and relax.

“We actually moved from the city last year as we wanted to raise our children in the country on a farm and fell in love with the central west after one visit.”

We asked for support on our Instagram page and are very grateful a lot of business were very generous and donated to our raffle.”  This raffle is for anyone who can pick up from Cowra, otherwise they do have a donation page where anyone in the community can be a hero for our daughter and help raise money for TSC.

Sam and her family have said “We thank everybody in advance as your support means the world to us. TSC receives no ongoing funding from the government and relies solely on everyone’s generosity. Our daughter will be four years old very soon so it’s been 3 years since Isabel was diagnosed. We hope we can help support as many families as possible who live with TSC.”

If you’d like to support Isabel’s family fundraise in our Central West community; hop onto either of these two links below.

Raffle link:

Donation link:


Reference: Tuberous Sclerosis Australia (TSA).

Amorette Zielinski

Amorette is a Mum of two boys who often keep her flying by the seat of her pants and a wife to a man who is so much fun to share life with; never dull! Friends often call her a ‘connector’ because she loves putting like minded people together curating experiences for them.

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