I am more than Rett syndrome but Rett syndrome is more than me

Why Rett syndrome is not rare

Let me explain my thinking.

Technically, because Rett syndrome affects fewer than 1 in 2000 it is listed as a rare disease.

I’ve been making collages of people affected by Rett syndrome and although I have a load of girls (and boys) in these collages, it’s not even a micro-speck of the real numbers of people affected by Rett syndrome.

It’s important to me to [em]separate the girl from Rett syndrome[/em] but also to show that Rett syndrome affects so many people.

She is a unique and amazing individual, she doesn’t need a disease to define her as rare.

We often talk about Rett syndrome being a rare disease, but what does rare mean?

We have two stories we tell, we tell our friends and family what Rett syndrome is and how it affects our child, the child they know and love and have exposure to. Through social networks me meet and see other children, but for many, bar parents, contact remains limited.

The other story is getting people to understand that thousands, worldwide, are affected by this disorder.

Poster factsRett syndrome is bigger than people think and I think we do damage to our need by calling it rare.

By saying this thing is rare, we create the impressions that there are other more “common” things that need to be addressed before Rett syndrome. It’s how, as humans, we try to prioritise. If something affects more people, we “prioritise” and say lets go sort this more common occurrence out first.

Applying the rare label to Rett syndrome creates a priority in the minds of people who have no connection to Rett syndrome. I’m not calling them cold, I’m not calling them callous. Their priorities are built on the perception of need.

We need to find another way to prioritise their thought process, of how we can move a “rare” disease up the chain of priority.

We are making some headway in this regard with things like the Defense Appropriations Bill which will potentially have a huge impact on our Rett syndrome studies in future. The strength of funding will bring more doctors and researchers to the field of traumatic brain injury. I would love to see more effort made in aligning ourselves with studies like this.

Let’s talk about rare.

Let’s break Rett syndrome down, Rett syndrome is considered rare, when 17 children every day are born with it. Figures now estimate that 1 in 10 000 people are affected by Rett syndrome. I’ve extrapolated this before in my Rare Disease Day posts, but based on the statistics there could be around 700 000 people in the world that are affected by Rett syndrome.

You might think that’s small according to population statistics (I don’t think 700 000 people should be classified as rare), but let’s consider what makes up Rett syndrome.
Among other symptoms, Rett syndrome includes :

  • Loss of speech (not rare)
  • Loss of motor control (not rare)
  • Scoliosis and fragile bones (not rare)
  • Seizures – including Rett episodes (not rare)
  • Compulsive hand movement (not rare)
  • Irregular breathing (not rare)
  • Apraxia or Dyspraxia (not rare)
  • Extreme anxiety (not rare)
  • Gastrointestinal issues (not rare)
  • Impaired circulatory and cardiac function (not rare)
  • Parkinsonian tremors (not rare)

Do you see what I’m getting at?

While Rett is considered a rare disorder, the symptoms of Rett are most definitely not.

  • 1 in 26 people have epilepsy
  • 3 in 100 have scoliosis
  • 6.3 million people have Parkinson’s

I can’t even begin to get the numbers of gastro issues and irregular breathing.

That means that hope for Rett syndrome does not only come from our field of research, it comes from others too. While our scientists tackle a “cure” and also try to treat other symptoms, other areas of research will and are having an impact on Rett syndrome. Just as Rett syndrome will have an impact on other disorders and treatments.

8 years ago (in 2007) Sir Adrian Bird reversed Rett syndrome in the Lab. 16 years ago (in 1999) Huda Zoghbi discovered the gene responsible for Rett syndrome.

As a community we need to be smart, we need to be collective, working together towards the only meaningful goal, and that is progress.

With all this in mind, I’ve been working posters that people can use to explain Rett syndrome. They will be available for sharing on Facebook, but I’ve also been making sure they are available for you to download and take to your favourite printer.

I will make sure there is a version that has space for you to add your own information, to raise for your daughters needs, or your favourite charity. The choice is yours.

I will link the big download poster once I am totally sure I have no duplicated pictures and also once I’m happy that I have all the girls (and boys) included.

Please message me if I you sent me a picture and I haven’t included it.

Also, I can make more posters, so if you never saw the initial request and you want your daughter to be included. Send me her picture for followup posters.

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More

Neuro-habilitation is a young field; its roots are found in the Neuroplasticity. We are constantly discovering more neuroplastic programmes that are having an effect on Traumatic Brain Injuries and also possibly on Neurodevelopment Disorders like Rett syndrome.

There are habilitation and rehabilitation programmes that will have an effect right now and in future.
Two techniques spring to mind, Feldenkrais and CME, both of which are used to reset neurology in patients, both of which have shown some incredible results in the field of Neuro-habilitation.

I’m going to blog about both of these in the next few weeks, as well as the importance of PT.

I am more than Rett syndrome but Rett syndrome is more than me