Sanfilippo Children’s Foundation

We feel very fortunate to feature a newly founded not for profit organisation, called Sanfilippo Children’s Foundation, as we are so lucky to have come across such a wonderful organisation who are working tirelessly to help bring attention to a rare and fatal childhood disease.

The Sanfilippo Children’s Foundation was founded in 2013 following the shock diagnosis of siblings Isla and Jude Donnell. Sanfilippo is a serious condition delivering the most devastating outcome to patients and families. Currently there is no effective treatment or cure.

Sanfilippo Syndrome is like a ‘Trojan Horse’. Children appear healthy at birth but as the disease progresses it begins to reveal its devastation. It is known to cause extreme hyperactivity, sleeplessness, loss of speech and other bodily function, mental retardation, seizures, blindness, dementia and finally death.

Imagine seeing your child gradually lose the skills celebrated as they first learned them as a toddler—the ability to talk, walk, laugh, swallow and even chew.

The Sanfilippo Children’s Foundation enables access for Australian children to therapies and trials aimed at the effective treatment of MPSIII, and will drive the science towards a cure. There are approximately 40 children in Australia battling this catastrophic condition and more are born each year.

The disease progression path and speed vary significantly from one child to the next, making it particularly difficult to predict. The disease symptoms cover a wide spectrum and some children may experience some of them but not others.

The disease is often diagnosed when parents find their child missing development milestones and undertake formal assessment. Because of its rarity, the disease remains largely unknown for most medical practitioners and it may take several years before a correct diagnostic is made. It is not uncommon for families to have more than one child affected before finding out they have the disease.

The disease does not yet have a cure and only limited palliative treatment currently exists; Right now Isla and Jude are both doing well but both children are living on borrowed time. Life expectancy is around 15 years. Medical research has recently achieved promising break-throughs with real hopes for the future.

There has been significant clinical progress recently, and an effective treatment is within their reach. But they need our help. By simply sharing a story and speaking about this devastating disease, you can help this amazing not for profit with their tireless efforts of finding pioneering treatments and ultimately finding a cure and saving lives. For more information please read their factsheet here or visit their website. To share a kindness story which equals a donation to Sanfilippo Children’s Foundation, please visit our share a story page.

We thank you from the bottom of our hearts for helping such a worthy cause.

 

Family

Isla and Jude Donnell with their parents Megan and Al

 

 

 

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