By Al Wood
August marks the first anniversary of Emilia’s diagnosis with Rett Syndrome. During the last year we have had to come to terms with the fact that Emilia will live a very different life than the one we had hoped to offer her.
It’s been a year filled with much heartache, frustration, worry and often a reluctance to look to the future.
Emilia’s page was set up to raise awareness of what living with Rett Syndrome is like. It’s not an easy thing to share aspects of your private life, but we know it’s necessary if we are to use it as a tool to help Emilia and others with Rett.
One of the things we have struggled with is being as open about the negative aspects of living with Rett, as we wanted the page to be more positive than just listening to us complain about how hard things are. In doing this we have glossed over some of the reality that living with Rett brings.
Emilia has such a wonderful personality and makes us smile every day. She is now 3 and should be having the time of her life driving us nuts, running around exploring the world around her. Instead she is completely dependent on others for everything she needs. For every time she wants to move position, every sip of juice and every spoon of carefully sized food, she is dependent on others. This will continue to be her life until a treatment is found. There are no positives to Rett, it’s a heartbreaking life sentence that affects almost everything, even something as simple as breathing.
July was an especially tough time for us as Emilia had her first hospital admission. In actual fact she spent her third birthday in hospital. We are still waiting for results but expect that the seizures were due to breath holding and hyperventilation. Emilia is not “better” from this, it’s now just another burden she has to live with. Emilia will sometimes breath hold and hypervenitlate for hours at a time. This is distressing and exhausting both for Emilia and for us.
During the last year we have been fortunate to have many friends and family raise money for Reverse Rett in Emilia’s name. We have supported each one of them but have held back from our own fundraising as there was so much else going on.
We have decided that the anniversary of Emilia being diagnosed is a good time for us to hold an annual facebook fundraiser. The aim being to support Reverse Rett in their goal of finding a treatment as soon as possible. In all the negatives that surround Rett, the dedication and hard work of those families that have been working for the last 10 years to find a treatment has been one of the very few positives that we have had to keep us going.
This year has already seen a similar condition to Rett (SMA) have an approved treatment available for the first time ever. This is very encouraging for everyone with Rett and their families, but until a treatment is available to offer Emilia and others a better quality of life, we need to keep supporting their efforts as they are the only hope of a better future.
We have felt very uneasy about asking people for support because there are so many other causes and fundraisers for people to support. All of them worthy in their own right and often with a more instant effect for the donation. That is one of the difficulties that Reverse Rett faces. It’s the fact that there is no guarantee or instant fix available as a result of fundraising. Although there is no treatment available, the amount of research being done and the progress being made will one day provide a significant treatment for Rett as it has recently with other genetic conditions. Our aim is to support them in making this treatment available as soon as possible so that Emilia and all the others with this terrible condition can have the best possible future, hopefully regaining some of the abilities that most of us can take for granted.
So for everyone who has taken some pleasure in seeing what Emilia is getting up to (and her cheeky smile) and everyone who thinks she deserves a brighter future, we ask if you can help us support Reverse Rett in making this a reality. Any donation, even a few pounds, will all help them in making a treatment available sooner. For those that can’t manage a donation but would still like to help, please like and share this.
Although Rett Syndrome is currently a life sentence, it doesn’t need to be. Science has proven it can be reversed. With all our help, Emilia and all the others with this condition can have a better future.