By Marisa Tompkins
Marisa is a dedicated supporter of Down syndrome research, “actively” showing her support through the LuMind RDS Runners program. She also advocated for LuMind RDS to be the beneficiary of her company’s charity fun run in January.
I’m often asked what it means to have a child with Down syndrome. My daughter Emily, who just turned two, was diagnosed at 13 weeks prenatally. I was initially devastated by this diagnosis thinking my life as I knew it was over. I was so wrong. Emily has changed my life in the most profoundly positive way. My life as I knew it then is over and in its place is a much richer life of greater awareness, appreciation, perspective, and empathy.
Emily had a very challenging start in life. She surprised us and came 12 weeks early, born at only two pounds, one ounce. She was in the NICU for 57 days and although there were hard days and a few scares, she was incredibly strong throughout. She is truly a miracle!
Emily has multiple therapies a week to help her with eating, speech, gross and fine motor development and cognitive development. It’s a lot of work, but so worth it. We’ve seen tremendous gains even in the last 6 months. It’s hard work and our whole family helps with Emily’s weekly therapies, but we are also taking steps now to preserve her future. We support LuMind Research Down Syndrome Foundation because of their focus on improving cognition and fending off the losses from Alzheimer’s disease. Its heart breaking for me to think that all the hard work Emily is doing now could be erased as she ages.
What we know about DS is that a very high percentage of people with it develop Alzheimer’s-like symptoms at a rate three to five times greater than that of the general population and at much younger age. Alzheimer’s disease characteristics develop in more than 98% of people with DS over the age of 40 with up to 80% developing dementia over the age of 60.
Our hope behind the research LuMind RDS funds is two-fold; developing treatments to intervene and stop Alzheimer’s disease progression; as well as treatments that could improve cognitive functioning and allow people with DS to live more independent lives with greater inclusion in schools and communities.
Emily is the most joyful and sweetest child I have ever met and of course I’m totally biased. Her two brothers, Hayden and Wyatt, completely adore her and they don’t see Down syndrome, they just see their sweet, perfect baby sister. I feel like I am the lucky one, having Emily has completely humbled me and has taught me how to slow down and appreciate the smallest moments and celebrate milestones in this life.
I love Emily with all my heart, just the way she is. However, cognition research provides hope for a future of unlimited possibilities and opportunities. I will spend my life fighting for Emily and my greatest hope is that she is accepted, respected, valued, and loved just like anyone else. No one is perfect; everyone has flaws, gifts, and something to offer. People with differing abilities just need to be given a chance, including the ability to retain their gifts and skills throughout their lives.