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Rolling for Ariella
24 hour Bowlathon Fundraiser
Who is Ariella ?
Ariella is a bubbly 8 year old Harvey girl who has a rare genetic condition called TBC1D24. The condition is named after the gene that causes it, essentially Ariella has a gene mutation on a gene called TBC1D24. She is about 1 of only 100 cases worldwide, so it is extremely rare.
Whilst most people affected from this condition have similar symptoms, they vary in their severity and not all cases are the same.
For Ariella in particular her symptoms include epilepsy, global development delay, hypotonia (low muscle tone), lowered immune system and periods of paralysis. Her periods of paralysis as this is her greatest challenge and currently have no known treatment.
Ariella can completely lose her muscle tone on any day, for a few hours or a whole day. What this means is that when she is having an episode she is unable to walk, talk, eat or drink.
She may wake in the morning with full muscle tone and then completely lose it by lunch time. These periods generally happen 2-3 times a week where she is not able to move for an extended period, but almost daily, at the end of the day when she is tired.
The only way to manage these is to try and manage her triggers which are heat, fatigue and overstimulation.
Despite her challenges, Ariella always has a smile on her face and approaches everything in her day with an amazing strength and determination.
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What is TBC1D24 ?
This rare epilepsy is caused by a mutation in the Tbc1d24 gene. For a person to be affected with this disorder, two mutated copies are needed. One from each parent. It is inherited in Auto Recessive fashion, meaning each pregnancy will have a 1 in 4 chance of being affected. While we do not know exactly what the Tbc1d24 gene does, we do know that it is responsible for various neuronal functions throughout many organs in the body. It is a fairly new gene, only having been discovered in 2011. There are approximately 120 people in the world affected with this disorder. There are likely many more, but are undiagnosed.
Tbc1d24 gene mutation comprises a wide spectrum of disorders. Some children are mildly affected, have controllable seizures, and have mildly delayed intellect. Others are severely affected, completely disabled, and have epilepsy that is drug resistant. Some features of this disorder can include tremors, various seizure types, low muscle tone, a distinct seizure scream, unsteady gait, and autistic-like features. The most serious comorbidities are status epilepticus and hypotonia. Hyptonia, if severe can lead to pneumonias and respiratory insufficiency.
The stress on parents, siblings and the extended families of affected children is intense and unrelenting. Support is needed in many forms, including emotional, physical and financial. The Harvey community is close-knit and it's common for us to all band to together to help each other, so let's spread the news about this fundraiser far and wide and raise as much as we can to help a local family by donating to the TBC1D24 Foundation to help all families affected by this condition.
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1pm 25th January through to 1pm 26th January 2023
Kitchen open for dinner on Tuesday 25th January
BBQ fired up for lunch on Australia Day 26th January
Bar open; Bowling Coaches on hand
Silent Auctions and much more at the
Harvey Bowling Club
Donations can be made to Bridging Communities
BSB 066-000 Acc 11575490 (Ref Ariella)
where 100% of donations go to the cause