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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


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  • I couldn’t access the link but I am having some technical issues at the moment.
    I would be interested to know the average age of the children when diagnosed.

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  • Very interesting! Thanks so much for sharing this!

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  • Oh no scarey times! I never knew anything about this until I read this. Thank you for sharing and baking us more aware of it

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  • storys are nice

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  • I’d near hear of 15q before either. Good on you for doing something about it.

    Reply

  • I have never heard of this either, it just makes you sit and think about all the different kinds of illnesses that are out there and until you read or know someone with it you would never know about it.

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  • i have never heard of it before and would assume that their are alot more like me and I think it is great that she has now become the source of information about this for other people out there who have been or will be looking for the same type of answers and information on this rare disease. Good on her for doing this and for finding out what she can about it and being someone others can reach out to who have found them selves in her shoes. I hope she can get her word out far and wide and to enlighten even those who need answers as well us those who are lucky enough to have not been touched by this disease.

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  • Good on you, I hope you get some great connections to help each other

    Reply

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