BENEFITING: DUP 15Q ALLIANCE
Sophie is our little angel with a rare chromosome mutation. They have been working hard to fund research to help the lives of children with this disorder, and we thought it was our turn to do our part. Dup15q is the organization we are raising money for and every penny helps tremendously.
During the holiday season many people look for causes to donate their hard-earned money towards. I work so hard to give my Sophie a better life every day, but there is such a bigger picture that she is a large part of. I thought this year, and maybe every year, I could take a little extra time and try to not only bring awareness, but a little help to her "cause".
Dup15q Alliance is an organization set up for families like mine. We have a child with Isodicentric Chromosome 15. It is a rare gene mutation, not passed on from the parents but an act of God. And she is a little Angel. She is funny and happy and loving and a challenge. "They" said she might never talk or walk... and she loves to prove "them" wrong! She is starting to talk with routine words. She is walking... well, running most of the time. She loves us... and her dog. She is really beautiful, but her life is a struggle. Eating is difficult as her tongue doesn't move in symmetry and her core is too weak to hold her up. She wakes 6-7 times a night and needs to be held tightly to fall back asleep as her muscles are spasming for an unknown reason. She wants to be held most of the time as her muscles are just not strong enough to hold her up all the time and it is a lot of work for her. She had seizures - infantile spasms, that essentially made her comatose from 6 months to a year and a half where she couldn't eat and barely could open her eyes. She loves us so much. She is funny and really just beautiful.
There are others like her, spread throughout the world, but there is no giant population to bring awareness, or large walks, silent auctions, or telethons. Currently there are 716 registered with this chromosome abnormality and from the registry it gives us an idea of what to expect, or commonalities between them. There are some in their early adulthood, and life is fairly difficult to navigate for most to all of them and not one lives without 24 hour assistance.
This organization is doing amazing things to not only bring the families support and together… but more importantly, they are funding research to discover more about what this mutation does and how we can maybe better treat it in the future. They have done some pretty amazing things so far and there is so much more they can do… if they can get the support. Like I said, there is no major telethon or giant money maker. So I figured this was one way to help my Sophie out a little more… and hopefully help the generations to follow.
So I started Sophie’s Challenge… So if you have an extra dollar or two, I would just ask you to consider this holiday season donating it to Dup15q Alliance. It is so greatly appreciated! And if you are a little tight for funds, thank you for your consideration, and please continue to send Sophie prayers, and tell your friends!