A Day with Acadia- Part 1: Awareness

This Blog is hosted on behalf of Mel Lancaster, whose original blog was silenced. I like to end this month on an up note and that presented itself when I was invited to speak at Acadia in San Diego. Bill Keller, Executive Director; Patient Advocacy and Industry Relations, of Acadia wanted to do a Rett syndrome Awareness […]

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 […]

What is Rett syndrome?

Rett syndrome is a disorder that mostly impacts girls. It affects many parts of the body, but because it influences development of the brain it is primarily seen as a brain disorder. It is currently estimated that around 1 in 10 000 girls have Rett syndrome. Rett syndrome is genetic, but it is not hereditary. It is […]

More about Trofinetide (NNZ 2566)

Trofinetide (NNZ 2566) increases the amount of connections in your brain that control thought and movement, more connections are good. Rett Biology People born with Rett syndrome have fewer synaptic connections. They also have overactive microglia, which are responsible for the maintenance of these “connective structures”. What we hope to change Trofinetide  does 2 things: Helps […]

Rett syndrome research – What’s happening

Rett syndrome (RTT) science is REALLY important to me, as are the people dedicated to finding cures and treatments for RTT . So much so I’m making it my mission to explain my stance on the subject of RTT science. Let me point out that I’m not a Scientist or a Doctor, I’m a just […]