In the spring of 1988, my two-year-old son, Timmy was diagnosed with mosaic Down syndrome. Those first two years of his life were very difficult for him and for me. It seemed that every milestone that other babies had no trouble meeting, were painstakingly more difficult for Timmy to accomplish. By his first birthday I was so discouraged with the slowness of his development that I began asking questions to the doctors in charge of his health. No one seemed to have the answers that I so desperately needed. I knew something was wrong, but didn’t know who to turn to to help us!

By the time Timmy was two and a half years old, his speech was so delayed that I insisted something be done to find out why my baby was not developing normally. A blood test was done and after six long weeks of waiting I was told that Timmy had mosaic Down syndrome. “We know nothing about this disorder” I was told. I was sent home with no information and no support and no hope.

I searched in vain for some kind of support. “Surely there were other families who had children with this rare disorder!” I thought. But, no matter how far I searched, I was unable to find anyone. Finally, I gave up my search and decided that I would just raise my son the best way I knew how. I never felt more alone in my life.

Little did I know that my son was ill with a thyroid disease that is common among those with mosaic Down syndrome. Because of this disease, Timmy went many years without growing at all. By the time he was twelve, he began having mild seizures because of the lack of health care for this disease. But, because there was so little known about mosaic Down syndrome, no one knew that he should be checked for this regularly. I again felt so alone because there was no information on mosaic Down syndrome and no one to turn to for support.

Finally, in 1999 the Internet was booming and most every household in America was logging on. I typed in mosaic Down syndrome in my search engine not expecting to really find anything and was very surprised to find a new email support group for families of children with mosaic Down syndrome! Finally, I was able to speak with other families who knew what I was dealing with! Finally, I was not alone! But, I quickly found out that these families knew little more than I did about this rare disorder. And, because my son was older, they were full of questions for me!

A little more than a year passed and I realized that the only way to find information and provide support to these families was to design an organization specific to mosaic Down syndrome. So, with the help of many families International Mosaic Down Syndrome Association was born! Since its conception we have reached over 500 families throughout the world touched by this rare disorder. We have spoken to countless doctors, researchers, and educators: all wanting more information on this disorder to help more individuals with mosaic Down syndrome. We have discovered many aspects of mosaic Down syndrome through research, but we still have a far way to go. We have learned through trial and error what works and what doesn’t for our children and young adults when it comes to education and their futures. And, we have become a very close knit family of 500+, because we really are all we have when it comes to the information and support for our children. Our family rejoices together when a new family comes to us and says, “Finally, I am not alone!” And they all say that when they come…because they truly did think they were alone, just as I did before I found this tiny email support group. 500+ families may sound like a lot, but that is just a tiny portion of the families touched by mosaic Down syndrome. It is estimated that over 12,000 individuals with mosaic Down syndrome are in America alone and that number is raising each day.

We are not looking for a cure. We just want information to help our loved ones affected by this rare disorder. We want doctors to know how to treat their patients with mosaic Down syndrome. We want therapists to know what the best therapy is for the young child who is developmentally delayed. We want educators to know how to best teach a child with mosaic Down syndrome. We want the public to know about this disorder, so when they meet someone with mosaic Down syndrome they will understand and they will treat the person with the dignity and respect they deserve. And, most importantly, we want families to know that they are not alone.

Kristy Colvin IMDSA
President
Mom to Tim