FOXG1 -A Rare Genetic Condition Affecting Children

FOXG1 -A Rare Genetic Condition Affecting Children

In conjunction with FOXG1 Awareness Month, A Rare Genetic Condition affecting children Vivek Singha originally from Shimla, Himachal Pradesh India, residing in Sydney (Glenwood) for the past 12 years, has setup the International FOXG1 Foundation Australia for his son Kush and all children
diagnosed with this condition.

“In March 2015, after 18 months of testing and investigation, we were told that Kush has a mutation on his FoxG1 gene. Kushagra has a unique mutation ( c.946 del ) which has not been reported previously in any database or literature. It is considered a single – point mutation that occurred spontaneously given that neither we (parents) nor his siblings exhibit the characteristics,” Vivek, the father of Kush said.
Kimberly-Clark Vivek’s employer are getting behind him to help find a cure so that Kush can live the greatest life possible. Kush is the first and only child diagnosed in Sydney. 8 children have been diagnosed to date in Australia and we know of fewer than 200 children worldwide suffering from this condition.
However many children around the world are also suffering from this
condition but have not yet been diagnosed.

WHAT IS FOXG1?

FOXG1 is a rare genetic condition which is profoundly debilitating.
Many children are unable to walk or talk or make purposeful movements.
The gene primarily affects brain development.
Because of the rarity of this condition, there is very little
awareness.

But there is hope:
Research is being done around FOXG1 with the aim of having a gene
replacement therapy available real soon. As this is a single gene
deletion, there’s hope that a there will be a cure for children with
FOXG1 in the next couple of years.
A cure will transform lives. However more importantly, awareness will make their journeys much easier.

US based Manolis Kellis, MIT Head of Computational Biology, is also
working closely with International FOXG1 Foundation Australia to accelerate research.
Early Identification:

All future parents can know at week 6-8 of their pregnancies of the likelihood of FOXG1. This is technically possible.

How can you help?

Vivek has set up the International FOXG1 Foundation Australia. The
foundation is still very much in its infancy, having only been in
existence for less than 3 months in Australia and its US counterpart for
just over 3 years.

The community can help the FOXG1 Foundation to drive research &
improve the quality of life for children with FOXG1 and their families
via donations and fundraising that will help finance critical research
programs.

Kush’s dad Vivek encourages everyone to go to www.foxg1.org.au and read Kush’s story, like and share the facebook page, and donate funds to support essential research for children like Kush and all future parents. You can contact Vivek or Monika at +61 430 383 826.

Together We Will Find A Cure!

kush1

Caption: The Singha family – Note Kush needs support

kush2

Caption: Kush and supporters at Glenwood Lake for awareness picnic

 

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