Back to the bathroom floor day, I was done with waiting. My internet search led me to the newly founded Rett Syndrome Research Trust, led by none other than Monica Coenraads. I wanted to find out what was happening in the research and why it was all taking so long. I knew if anyone had the answer, Monica did.
Following the merger between US family organisation IRSA and RSRF in 2008, Monica started the Rett Syndrome Research Trust (RSRT) to exclusively work to bring about treatments and a cure for Rett Syndrome. RSRT is the world’s leading Rett Syndrome research organisation. They fund the most Rett Syndrome research worldwide dollar for dollar. They are financially super-efficient and economical. They have an all at once common sense and sophisticated approach to driving the science forward with not a moment or cent wasted, but most importantly, their approach to driving the science forward is urgent and razor sharp in focus.
That day, when I read about the research projects RSRT was funding and their wider strategic approach to making treatments and a cure for Rett Syndrome happen, I wanted to find a way, any way I could, to help. I didn’t want to start an organisation. I was a single parent at the time, barely scraping by. I didn’t have any money; I didn’t even know anyone with any money but what I did have was time, in the day, when the children were at school. And whilst I only knew one other parent who had a child with Rett Syndrome in the UK, I knew there were more out there and that out there, there would be people who felt like me and that together, we might somehow create a window for people to help drive the science forward via RSRT from the UK.
Of course, it isn’t uncommon for parents of affected children to set up disease-specific organisations. Most of the time, these organisations are founded and subsequently operate on a geographical basis. In the first instance these organisations are often validated by doctors and researchers in their country who may have come into personal contact with the founders. These clinicians and researchers are often then funded by the organisation, sometimes for their entire career.
With localised spending happening across many countries and a lack of a central drive, disease-groups often experience different scientists in different countries, replicating the same research, wasting time and money with no central impetus bringing the different projects together and ensuring the field moves forward cohesively. It is a brilliant thing to start a patient organisation but it’s key to know what your goal is from the start. When the focus is on geography, or more accurately, national identity, and not on the overall trajectory of the field, with an uncommon disease like Rett Syndrome, there is only one loser; the patient.
The first time I emailed Monica, she asked me if we could set up a time to speak on the phone. I was horrified. I had seen her speak at a conference a couple of years earlier and had lately been doing a lot of listening to her Youtube videos whilst doing jobs around the house in order to better understand the research. I didn’t want to actually have to speak to her in real life. I didn’t know who she thought I was, or what I could do….I didn’t have any money to donate; I didn’t even have a phone. But I remembered my face wet against the hard tile of the bathroom floor and went to the store, bought a phone, plugged it in and the rest is history. It only took one call to realise that Monica wasn’t all that different from me—she wanted treatments and a cure for her own daughter and all girls and women with Rett. She just had years of experience working with scientists so she knew the leading researchers very well. It took two calls to realise that we’d need our own UK organisation so we could raise funds and distribute them to RSRT to make the biggest impact on moving the whole Rett research field forward.
Six years on, Reverse Rett has now delivered over $5 million to RSRT. It isn’t enough. Amber is 20 now and can no longer stand up. She has to be hoisted into and out of bed, never mind the bath. Every minute that she is awake, she struggles with breathing difficulties and tremoring and dystonia. Whilst other 20-year old girls are living it up at college or lying in the park on a sunny day with a boyfriend, this beautiful young woman is stuck in her wheelchair or sat on her bed, doing physio stretches, being tube fed, trying her best to control a computer to make the most basic of choices with her eyes.
The research moves forward. Since we launched Reverse Rett, we’ve seen and supported the gene therapy reversal of 2013, research which has given scientists the first tangible way to reverse Rett in people. We’ve seen and supported four clinical trials of potential therapeutics that we hope will help ameliorate some of the many difficult symptoms our girls deal with every day. We’ve seen and supported the clinical development of an entirely new compound that almost completely corrects the breathing dysfunction in mice.
RSRT continues to set and execute the research agenda, supported by Reverse Rett all the way. And so, the research moves forward and with it, the potential for a better future continues to unfold, for Amber and my step-daughter, Beth, and for all girls and women with Rett Syndrome worldwide. Waiting is overrated. Nothing feels better than taking action to build a better life for the girls we love.