When you have children, you open the door to a new chapter of your life. With each birth comes excitement, hope, dreams, and more and more love. But when your child/ren begin to have delays, these focuses start to shift, and you begin to take on new wishes with sprinkles of worry. When Lucas was born, we knew that there may be some concerns ahead because of a traumatic birth. However, he was a social baby, engaging and happy. But he struggled with meeting his developmental milestones. 26 months later, Lara arrived. Our hearts grew larger, our dreams expanded. But she also started to show some developmental delays and the search began. After 2.5 years of searching with attending countless doctor appointments and performing numerous tests, on January 22, 2015, both Lucas and Lara were diagnosed with Cockayne Syndrome, an extremely rare genetic progressive terminal disease. Our worlds were rocked, why us, why our children?
But after we digested the disease and the dust settled, we chose to look for the positives. Always looking for things they could do, instead of the countless things they needed help with or couldn’t do. Taking cognitive impairments, extreme sun sensitivities, speech delays, mobility challenges, hearing aids/cochlear implants, gastrostomy tubes all in stride to help them develop and grow to be the best that they could be. It’s been 8 years since our diagnosis and the children have grown and changed since that day back in 2015, but the one thing remains- They give the best hugs, they know how to thaw the coldest heart, they see no boundaries in themselves, or others and they are full of pure love. They always work hard and are relentless with their perseverance.
We have taken this diagnosis of Cockayne Syndrome and embraced it. We can’t change it, no matter how much we would like, so we take it in stride. Our family has grown one more with the addition of their brother Leyton, who completes our family.
We have taken this diagnosis to help spread awareness for both Cockayne Syndrome, and also for abilities of people with unique needs. We created a public Facebook page called Marini Bucket List, to highlight all the things that the children can do and experience. So that one day we will look back and know that we lived a full life, not one of fear and sadness but rather one of hope and adventure.
We are humbled to have been selected by the Shannon Daley Memorial Fund and are excited to continue to let our light shine during such an amazing event.