It is so hard to believe that it has been a year since I first heard those words: “Elle has tested positive for Rett Syndrome”. I remember the moment clearly, the room seemed to go silent, the doctor was talking but I could no longer hear his words, the tears ran down my face as I knew that this moment would change my life forever…..
The last year has been a bit of a whirl wind for me. Returning back to work after a 14 month maternity leave, trying to juggle the continued multiple appointments for Elle, managing the on-going debilitating seizures that plague and leave her without the ability to walk for hours and sometimes days following, and trying our hardest to live as “normal” a life as possible. Watching our girls grow is the single most fulfilling and rewarding part of my life, however seeing Paige catch up to Elle in her development reminds me of the struggles Elle will always face. Rett Syndrome has become a part of my every waking minute and as much as I want to forget that it exists, it has a habit of reminding me that, at least for now, it will never go away.
The grief and loss that I felt upon hearing the diagnosis has changed over the past year. The “why Elle” has changed to “don’t” – Don’t let her have more seizures. Don’t let her lose her ability to walk. Don’t let her lose her ability to talk. Don’t let her lose her ability to eat. Don’t let her develop scoliosis. Don’t let her die suddenly in her sleep as do so many girls with Rett. Don’t let anything happen to Kevin or I because we have to be able to take care of her. Don’t let her die young because I can’t bear to lose her, but don’t let her outlive me, because who will take care of her when I am gone?
It is because of these “don’ts” that both my husband and I are determined to continue to both raise awareness and funds to support on-going research. And it is for that reason that I reach out to you today on the anniversary of our diagnosis. Ref4Rett 2012/13 was able to raise over $48,000 in support of the Ontario Rett Syndrome Association (O.R.S.A), all of which was dedicated to research, specifically towards the development of a National Rett Syndrome Registry. The establishment of the registry is important to families across Canada because future drug trials can only be implemented in Canada through an approved registry. Exciting research is happening daily and scientists at the Toronto Western Research Institute at the University Health Network have revealed restored function in the Rett syndrome mouse model across a broad range of symptoms. The study was led by Dr. James H. Eubanks, PhD and recently published in Human Molecular Genetics (http://www.ncbi.nlm.nih.gov/pubmed/24009314). These remarkable findings provide further evidence that a treatment or cure for Rett syndrome is within reach.
Join us as we continue on our journey towards making Rett Syndrome a thing of the past!