Silvana Berti

Why I'm doing 3 Peaks Adventure

Firstly, it has given me an amazing opportunity I never thought I would get to experience. Imagine walking the 3 peaks of Mt Kosiosko (it's always been a dream of mine, but I never thought I could make it a reality). 

Secondly, and most importantly, raising awareness and funds for the great work being done by the Children's Medical Research Institute (CMRI).

This fundraiser is very personal to me. My son Aiden aged 12 has a rare, life-threatening condition called Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency. LCHAD is a long-chain fatty acid oxidation disorder. It is a metabolic disease caused by a missing enzyme complex needed to convert fat into energy. The result of this one little missing enzyme is a huge adjustment to Aiden's life. In addition to having to eat at scheduled times, Aiden's diet can only consist of foods of less than 3 percent fat, or his body could go into a metabolic crisis, which he is especially vulnerable to when sick. This means he constantly has to worry about what he's consuming and his energy levels. Aiden was the first child diagnosed through newborn screening and the 10th child in Australia with this condition. At the time I didn't know or even understand what this meant. All I knew was that, with such few diagnoses made, I was completely alone. Through the years of adapting and learning how to manage Aiden's condition, we've become more aware and informed of the impact this condition will have on him in the long term, as well as his life expectancy.  CMRI is our only hope of finding a cure for him. Currently, the gene transfer therapy being developed by CMRI to cure kids with cancer also has the potential to cure Aiden's condition in the same way. 

There are so many families out there that would benefit from the work that CMRI is doing, my husband's cousin is another who has a daughter with CDKL5 deficiency disorder, you see 

1 in 20 kids face a birth defect or genetic disease.

With over 6,000 different known genetic diseases – most of which are poorly understood and have no specific treatments or cures – research is more important than ever

So please help me hit my target and help to eliminate these genetic diseases that are harming our children!

All the money raised from this fundraiser will go directly to the Children's Medical Research Institute (CMRI). 

With every step I take and every dollar I raise, I will be supporting the Children’s Medical Research Institute ( CRMI ) complete world-leading research to find cures for children's genetic diseases.

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