Little boy's battle with rare illness in Joburg

A little boy in Johannesburg is living with one of the rarest conditions in the world.

He is highly prone to cancer‚ battles to walk‚ has a thickened left ventricle wall in his heart and a super-fast metabolism that once saw him wake up shortly after a general anaesthetic had been administered.

Eight-year-old Aidan is living with Costello Syndrome (CS)‚ one of three known cases in South Africa and only about 300 worldwide. He was diagnosed when he was 18 months old.

The genetic disorder affects many parts of the body‚ has no cure and is regarded as “life-limiting”. It is characterised by delayed development and mental progression‚ distinctive facial features‚ unusually flexible joints‚ and loose folds of extra skin‚ especially on the hands and feet.

Raising Aidan has become a full-time job for his mother‚ Melissa Botha. She is baking her way to keeping him alive by selling a patented cupcake mix and ready-baked cupcakes through the Raising Aidan Foundation.

Aidan’s monthly medical and related costs‚ including attending a school for children with special needs‚ amount to around R35‚000.

“He is very prone to cancer‚ so I scan his tummy every three months for tumours. When he is older‚ the risk of bladder cancer increases‚” she said.

He has a thickened left ventricle wall in his heart. Costello Syndrome kids also tend not to produce their own growth hormone. This affects their entire system‚ especially sleep.

“His metabolism‚ we suspect‚ works about 50% faster. Because of this‚ he’s woken up during anaesthetic before with an MRI‚ medication has been quite useless at times‚ and he eats enough to feed an elephant most days‚” Botha said.

In his short life span Aidan has undergone 14 general anaesthetics‚ three MRI scans and had Botox injections in his feet in an attempt to lengthen his tendons and had surgery to his spine.

“It’s been an emotional rollercoaster that comes with a special needs child. You grieve with the diagnosis ... and then it comes in waves as you are confronted with each medical challenge. But we take it one step at a time‚” his mum said.

“I tend to get into action mode when disaster strikes‚ and deal with the emotion and grief later. So I threw myself into manufacturing and distributing the cake mix formulated by my mum. I knew we would be able to raise the necessary funds through this model.”

Kelly du Plessis‚ head of Rare Diseases South Africa‚ said there were approximately 300 patients diagnosed across the globe with Costello Syndrome.

“It’s very rare. CS suffers generally have cardiac issues and are very prone to stomach cancer. Aidan has quite a few bone deformities‚ his hands‚ feet and hips. It’s quite an obvious condition and it’s obviously life-limiting.

“He won’t live through an average lifespan. It’s about a 60% reduction on his life‚ so he is only likely to make it to middle adulthood. Aidan is like a show filly‚ he has an absolutely amazing personality.”

Du Plessis said Botha‚ by using her baking to keep her child as healthy as possible‚ showed signs “of a mum needing to do what she has to do for the benefit of her child.”

“The reality is that she can’t hold down a full-time (job) because of his needs. He does need special assistance. He’s got huge medical bills. It’s really a case of her taking the skills that she has and using it to better a relatively difficult situation.” Fast facts about Costello Syndrome:

• Problems with the heart are common.
• Individuals with CS have a 15% lifetime risk of developing malignant tumours‚ with the highest risk occurring during childhood.
• It has a prevalence of approximately 1 in 381‚000 so it is an ultra rare disorder. Since 2005‚ when a diagnostic test was created‚ around 200 people have been reported in world literature.

Source: Costello Syndrome Family Network