A Day with Acadia- Part 2: Assurance

One thing Bill Keller said that really resonated with me because of the sincerity and sense of duty that he said it with- (paraphrasing here) “I met Steve Kaminsky and he told me that since this drug (Trofinetide) existed it was our responsibility to get it to families.”

Rett syndrome Awareness Month 

Hi Im Carys

Why it’s important. The only way we will truly disrupt socially, is when we all share the exact same thing. This is a hefty read, here’s a summary. I will talk about : Inclusion, it’s more than just people living with Rett How going viral made a charity $50 Million New Diagnoses Bad information Good […]

My Rett journey

Don;t be their voice, amplify it

I wish that I knew what I know now. When I was younger. Rett syndrome is a better diagnosis now than it was a decade ago. I’ve been on this Rett trip for a while now, and my outlook has changed considerably throughout this journey. Volumes of studies, research and hard work from a fantastic […]

Rett syndrome nutrition & the big second brain (your tummy)

Good nutrition is the building block of a healthy brain. New research is telling us really important stuff about the gut and Rett syndrome nutrition. How it is now seen as our second brain and also as a window to our brain health. Our guts are incredible things; they’re also one of the most important cogs […]

The Trofinetide trial is important to Rett syndrome.

We now know what Rett is, what causes it, where it’s located. We have proven it’s reversible and for the very first time, we potentially have a treatment that could profoundly impact the disorder. Crucially, improvements were shown after less than 2 months. Because of the way Trofinitide works, we could expect to see continued […]

Boys with Rett syndrome

Boys with Rett syndrome have 1 of 2 other disorders which allow for a Rett syndrome diagnosis Klinefelter syndrome (Also known as 47 or XXY) Somatic mosaicism This is because Rett syndrome is a clinical diagnosis and a clinical diagnosis for boys can only be given if 1 of these conditions is met. A clinical […]

More about the #REALLIFERETT Campaign

Trish and I discussed the #realliferett campaign for some time, even after she had finished the blog post she was worried that it might be too raw, too emotional. What she has done is incredibly honest and brave. I think most parents dealing with Rett syndrome are brave, but society doesn’t like them to be […]

A worn path

Why walking and standing therapy is important. Humans are designed to stand, walk and run; it is a primary function of our physiology and why we are built the way we are. Our ability to stand upright differentiates us from so many other animals; it also means it’s vital for our natural state of growth. […]

Birthday cards, graphics and all things that we make

I love the fact that I get to make all these fantastic things for these beautiful girls (women) and boys (men) and I will keep doing it as long as I am able. I don’t think I need a reason to make someone’s day a little brighter but this is what I can give. With […]

Rett Syndrome Awareness Month & Army of Us

I know that Awareness Month is tough. It’s a constant barrage of everything Rett syndrome which can suck the life out of you and the people connected to you. You’re under pressure to do more, say more, share more and be a bigger part of Awareness Month. Why is Awareness Month so important though? Awareness […]