Jonah's Whale

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Why we're doing Jeans for Genes

Hello Everyone! Yet again this year we are fundraising for Jeans for Genes Day in the hope of raising some money for the amazing scientists at the CMRI and also to raise awareness of the condition Jonah has.

Alot of our family and friends know of Jonah's condition and the journey our boy has been on in his 4 years of life so far. We are amazed at the resilience of Jonah and the way he has coped with the downfalls of having his condition, Congenital Myasthenic Syndrome. He is currently on medication which controls his muscle weakness most of the time, and enough for him to get through each day. He still struggles with weakness, especially if he's had a big day or been very active. We spent alot of time in and out of the Royal Children's Hospital's ICU and Neurology ward in the first 2 years of his life, and almost lost our boy a few times. We are blessed to still have him in our lives.

Congenital Myasthenic Syndrome falls under the umbrella of Muscular Dystrophy and is a diverse disease caused by genetic defects affecting neuromuscular transmission. individuals affected have muscle weakness (myasthenia) that worsens with physical exertion. There are at least 32 different genes that can cause CMS and each gene can mean different things to the individuals effected.

The most commonly affected muscles are the facial muscles, including muscles that control the eyelids, move the eyes and for chewing and swallowing. All of the muscles used for movement (skeletal muscles) are affected also. CMS is quite rare and so the long-term outcome is not well known.

Many people affected with this condition have developmental delays, and episodes of breathing problems (which will vary in severity and usually result in hospitalisation, especially when it is related to a fever or infection).

The exact number of people with Congenital Myasthenic Syndromes is unknown. Some studies suggest that between 2-12 people per 1,000,000 may have CMS. With 14% of them being caused by the RAPSYN gene. 

So please, continue to help us raise money for this amazing cause and help scientists continue to create medications and possibly cures, that can help children like Jonah to live a normal and happy life! 

Thank you. 

Thank you to our Sponsors



A BIG thank you for all your work these past 2 years in SEI!


Joanne Bottin

Our tough little warrior Jonah, we are so very proud of you xx


Stephanie Levy

Go get ‘em Jonah!! X


Sue And John Dobson

We love you, our little champion xx


Louise Shapter

Love u crazy boy 😊 x


Taren Ashcroft