We received a great story from a Slidely user about her child who was diagnosed with a rare disease, 15q25.2 deletion and how it has affected their lives. This mum is trying to raise awareness and a place where people who know of someone who has been affected can go to for resources and more information. Here’s her story:
In March of 2010 I received a phone call that no mother could prepare herself for. My daughters test results were in and the UCLA Genetics Team needed us back asap to discuss their findings. My throat went into my stomach as I hung up and tried to grasp what I just heard. When my husband and I arrived in UCLA with our daughter Juliana, we tried to hide how scared we were by discussing dinner plans after we get back on the road to drive 2 hours home.
We head in to see the Doctor. I have never been more scared! The doctor enters and I immediately notice his smile and positive face that we saw on the last visit had turned into a straight face. He then asks us if we would like to excuse our daughter to the playroom while we speak. UUUUGH Definitely Not Good! As a nurse takes my daughter to the play area I assure her that we are just discussing boring things and she’d have way more fun in the playroom.
I’m shaking terribly as I step back into the office. The Doctor hands us a document with an official diagnosis, 15q25.2 deletion. 15Q What? The Doctor explains that Juliana has an Extremely Rare Genetic Disorder and to date there were only 4 other cases documented like hers worldwide! He continues to say that the only thing he could find to possibly help us was something he pulled up on the internet that was from the UK. We asked what to be concerned about and he said (I have to admit its hard to type this even now) your daughter is at high risk of developing Schizophrenia. He tells us we’ll need to monitor her behavior once she reaches her teen years and keep an eye out for signs.
MY HEART SANK! Did he really just say Schizophrenia? I spent the next 6 months battling anxiety, panic attacks and depression. I searched online for something… anything that could give me some insight or answers. But there was nothing. I felt so alone! It was then that I decided to take matters into my own hands – If there were no resources, then I’d become the resource! I started a Facebook Page under 15q deletion.
I began researching, gathering information and through networking I have now had dozens of families find me via this Facebook page all with children who have 15q deletion syndrome. Raising awareness for 15q Kids is now my passion! I recently stumbled across the Slidely website and saw it as a great opportunity to create an uplifting video of my 15q Kiddos and use it as a tool to raise awareness during the first ever “Rare Chromosome Disorder Awareness Week”. It was wonderful to be able to share the video on my page. Watching this video, hearing the music and seeing all those pictures put a smile on my face and made me feel, for that moment, that everything will be OK!
Spread the word and help Sarah create awareness for 15q deletion. The official 15q deletion Facebook page: https://www.facebook.com/15qDeletionOutreach
Sarah Yeaman has written a little about her situation and raising awareness campaign for us http://www.blog.slide.ly/15q-deletion/
Posted anonymously, 29th June 2014