To Hannah – the night before Christmas

By |January 2nd, 2015|

Eight years ago this Christmas, when I was six months pregnant with you, my first born child, my sister (your aunty) gave me a blank book. She had had her own first child 7 months earlier, and in the front of the book she wrote that it was a journal for us to record those special early moments, as we […]

For your Eyes only

By |January 2nd, 2015|

Mostly, when I write about Hannah (as distinct from Rett Syndrome), I write about her cheeky smile, her wicked giggle, her sparkling eyes and her mischievous personality which captivate most of those who meet her. The regular reader will recognise these phrases and references, the friend will recognise the little girl I describe.

But this is not the full story. Of […]

Milestones

By |January 2nd, 2015|

I sit across the other side of the room to my husband. We take it in turns to hold out our arms and call her name in high-pitched voices, smiling, trying to entice her to take those few fragile steps in our direction. When she gathers the courage to begin, we speak soft encouraging words, anxious not to distract but […]

The Development of New Clinical Trials in the UK

By |March 2nd, 2014|

In February 2015, Reverse Rett announced that they had “committed seed funding to Dr Paramala Santosh and his research team at King’s College London for an innovative new clinical research project which seeks to establish comprehensive and effective, patient-orientated behavioural and physiological outcome measures for patients with Rett Syndrome.”

To read more  about what these trials entail, and what they mean for […]

Improving Symptoms

By |March 2nd, 2014|

Rett Syndrome comes with a whole host of difficult symptoms which affect daily life. Alleviating even one of these symptoms can significantly improve the quality of life for the girls and their families. There are several different approaches to this research, none of which I will go into at length here as it’s highly scientific and complex, but if you […]

Bypassing MeCP2

By |March 2nd, 2014|

Again, this is rather a complex scientific notion for most of us (well, me!), but in short the idea is to identify other genes which, when mutated, somehow protect an individual from a MeCP2 mutation.

There are people who have common MECP2 mutations and normal X chromosome inactivation who do not have Rett Syndrome. Identifying which genes protect some people from […]