Family trip to the RTS Conference
Hello Family and Friends,
As many of you know, our daughter, Cecilia, has been clinically diagnosed with Rubinstein Taybi Syndrome (RTS). While Cecilia is developing into a sassy, social, curious little toddler it has definitely been a difficult few years.
In the early months Cecilia had difficultly nursing, trouble with her bowels, respiratory illnesses and cried a lot. We were told it was collic at first but with persistence we were referred to a paediatrician who set us on the genetic testing path. Dr. Ford Jones has been fantastic, advocating with us for genetic counselling at McMaster. While we are grateful for him, and for finally getting the genetic testing underway we are left feeling like there isn’t enough support here. In Ontario, and even in Canada there are no specialists for RTS. It seems all the doctors and therapists are learning right alongside us.
We have joined a support group online and have been advised by so many families that attending thisRTS Conference in Cincinnati will be so beneficial, not only for Cecilia but for our family as a whole.
Cincinnati Children’s Hospital has a team dedicated to RTS. This conference comes at a time when weare searching for the best therapies and specialistsfor Cecilia without overloading her. I truly believe we will learn a lot here from the doctors, speakers and almost more importantly, from the hundreds of other families attending.
Currently what we know medically about C is that she has an Atrial Septum Deficit and murmur in her heart, a slightly enlarged kidney, microcephaly, and chronic constipation. She is developmentally delayed, has difficulty drinking and is currently non verbal.
Beyond that C is a social butterfly, loves music, books, eating, and chasing her sister. She is extremelydetermined and is mastering one skill at a time. She is crawling all over the place right now. Her genuine love of her family melts my heart.
We are asking for help to attend this conference. Unfortunately taking the extended time off work and general life costs mean we don’t have the funds to make a trip like this. If we could do this in a few years we’d be ok, but the conference is this year, and the importance of early intervention outweighs my pride. So, if you have a few dollars to spare we would forever be grateful and promise to use it to help Cecilia, as well as Evelyn, Mike and myself to move forward in a positive direction with a few more answers and some guidance backing us up.
Thank you all so much for all your love and support
Rhiannon, Mike, Evelyn and Cecilia
Below are a few links for RTS and the conference
RTS conference