Welcome to Remarkable – a podcast about the families all over the world, who love someone with Rett Syndrome.  

Rett Syndrome is a rare neurodevelopmental, genetic disorder that is caused by mutations on the X chromosome on a gene called MECP2. It causes problems in brain function, and that in turn effects every part of the body – from breathing, to walking, talking, digestion and beyond. There is no current cure for Rett Syndrome.

I will be working with some amazing Rett Syndrome families to bring you the rest of the podcast series closer to October 2019, so I hope you stick around – tell your friends – subscribe and keep in touch. Awareness is built by the community around us, so I thank you for listening and we will be back soon with stories about life with Rett Syndrome.

You can find out more about our family at www.teamjovie.com

Links related to this episode:

What is Rett Syndrome?

History of Rett
https://www.rettsyndrome.org/about-rett-syndrome/history-of-rett/

How Mutations in the MECP2 Gene Cause Rett Syndrome
https://www.youtube.com/watch?v=eTzfA5_CdXg

Newly Diagnosed?
http://www.graceforrett.com/newly-diagnosed/

The Boys of Rett
https://reverserett.org/the-boys-of-rett

Life Expectancy
https://www.rettsyndrome.org/about-rett-syndrome/faqs/

Roadmap to a Cure – Rett Syndrome Research Trust
https://reverserett.org/cure/
https://www.youtube.com/watch?v=AaF9AmXv9d4

Understanding the 2007 Reversal (MECP2/Rett Syndrome Reversal – Adrian Bird, Ph.D.)
https://www.youtube.com/watch?v=_3soCaY3CwM

DONATE – Where to fundraise?
Please consider these few places to help support the research and the families with Rett Syndrome

Rett Syndrome Research Trust – https://reverserett.org/donate/
Rett Syndrome Association of Australia Inc. – https://rettaustralia.org.au/donate/
Telethon Kids Institute Australia – https://rettsyndromeresearch.raisely.com/
Girl Power 2 Cure – https://www.girlpower2cure.org/donate/
Rettland Foundation – http://rettland.org/donate/
RettSyndrome.org – https://www.rettsyndrome.org/get-involved/donate/

Rett Clinics
https://www.rettaustralia.com/clinics
https://www.rettsyndrome.org/for-families/rett-syndrome-clinics

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