Revolution

This awareness month, Army of Us has been all about Revolution. We’ve shared awareness images with our take on famous propaganda posters, created profile flags and made timeline posters. But what do we mean when we talk about revolution in the context of all of us living with Rett syndrome? A revolution often happens when people demand change, when there is a tipping point and the status quo is no longer acceptable to the majority. Rett syndrome is obviously a big part of what we face and how we feel, so it is easy to say that our revolution is

Read More »

Still water

 Your child is not “retarded”. This is very close to my heart, every day I read comments from families about the intelligence (or lack thereof) of people living with Rett syndrome. I feel I need to rectify what is being said. I know it’s not their fault, families (and friends) get their information from people & organisations who represent Rett syndrome. They are the root of all information that is distributed about the disorder, which is why I feel it is so vital for them to get the proper message out. I hate using the word “retarded”, I am VERY

Read More »

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 in how our body interacts with our brain.  [The second brain in our stomachs – BBC News] New studies have shown that tummy health helps mind health. We have identified that gut health is even responsible for our behaviour.  [Anxiety and depression caused by stress

Read More »

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 improvements over a longer period of time. This will be the purpose of a phase 3 trial. What is Trofinetide? Trofinetide is designed to improve nerve connections in the brain. It modifies Rett biology which means it tackles more than one symptom at a time. I

Read More »

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 diagnosis is based on medical signs and patient-reported symptoms, rather than diagnostic tests. It is not a genetic test; genetic tests only confirm mutation/deletion on the MeCP2 gene. This also means the boys have to present the clinical symptoms that identify Rett from the revised diagnostic

Read More »

How to tell a family their daughter has a Rett Syndrome diagnosis: A message to all doctors and genetic counselors

It is Down Syndrome Awareness month and I read a brilliant post about “How to Deliver A Down Syndrome Diagnosis the right way”  – which, by the way, I encourage everyone to read. However, this got me thinking … maybe a letter also needs to be written on “How to tell a family that their daughter has Rett Syndrome” or at the very least – how NOT to tell a family. In MOST Down Syndrome diagnosis’, the news comes immediately at birth or shorty after, mainly because there are physical features that allow a diagnosis to be made, or at least

Read More »