We have all seen the myriad of ads for various awareness days and ribbons and fundraisers for diseases. But what happens when no one has heard of the disease you or your child is diagnosed with?
Abby has something called Rhombencephalosynpasis. This (and I am oversimplifying a little) means that where her cerebellum should be two separate lobes it is instead fused together with no vermis. She also has hydrocephalus, enlarged 3rd and 4th ventricles and partial agenesis (fusing) of her corpus callosum.
When I was pregnant with her the doctors told us that she would be very unlikely to survive pregnancy and birth and that if she did the chances of her walking, talking or thinking about be minimal. We decided to take our chances and have some hope. I'm glad we did.
Despite the doctors being SO WRONG she still struggles. With everything from balance, to fine motor skills to her social interactions with peers... she struggles.
When your child has a diagnosis that people can understand they are (sometimes) sympathetic. People are willing to raise money and wear ribbons and do walk a thons. When they cannot pronounce the condition your child has you get a lot of blank stares and stupid questions. That part is hard. There is no where to send a check so that future generations of children with RS can have it a little better. There is very little research being conducted. VERY few doctors have a clue what it is.
So today is Rare Disease Day. It's a day for families like ours to display our ribbons. I'm not personally trying to raise money, just a little awareness. (Although you can donate to the Rare Disease Cause HERE.) My daughter doesn't have cancer or downs syndrome or cystic fibrosis but she deserves as much awareness as any "known" disorder. She deserves to have people try to understand what she deals with.
Today is her day.