Every year on the second Saturday of May we bring awareness to a rare condition, Cornelia de Lange Syndrome or CdLS. This year it falls on May 13th and we will celebrate by hosting a booth at the Inclusion Festival in Petaluma, California. We will have information on this rare disease as well as purple crafts, a purple heart bean bag toss, & “swag” from the CdLS Foundation. All of this purple preparation is important for me and my family because of our Aisley!
Aisley was born on February 14th, 2019 at only 34 weeks. At the time we didn’t know why she was not growing in utero. We planned for her to be in the NICU for some time but were not expecting a life-changing diagnosis. Although Aisley was born just over 3 lb and perfectly symmetrical with a tiny head (microcephaly), tiny hands, and feet we were blinded by our adoration for our precious baby girl. A geneticist met us in the NICU beside Aisley’s isolate to share that her simian line on her hand, her thick long eyelashes, and a few other characteristics, that I now know are the typical characteristics of CdLS, were signs of a genetic condition. When Aisley was 12 days old the results from the genetics blood test returned negative. This was a big sigh of relief, but it wouldn’t last long. That evening the resident doctor shared with us that the geneticist wanted to meet. We were guided into an empty NICU room where we sat in dim light with the geneticist, genetic counselor, med student, resident doctor, social worker, and nicu nurse. As my partner and I listened to the description of my daughter’s clinical diagnosis of Cornelia de Lange Syndrome I bawled while attempting to comprehend it all. Looking back I find it interesting that the one question I asked was “will she be in a special education classroom?”. Perhaps being an educator this is how I could understand the severity of this diagnosis and how it will impact Aisley’s life.
It has been a journey since that first day we learned our daughter had a rare genetic syndrome. Emily Kingsley’s “Welcome to Holland” poem which often resonates with families when receiving a diagnosis rang true to me as well. Adjusting to this life was hard and there are still days of grief but Aisley has given me a new strength and reason to help make the world a kinder place. The early days brought feelings of isolation with minimal time between exclusively pumping to provide Aisley breastmilk and her slow feeds through her feeding pump. Aisley had terrible reflux and an airway disorder, Laryngomalacia. We had many moments on the side of the road trying to soothe Aisley as she struggled to breath. I am glad those days are behind us. Although reflux and feeding through her g-tube still can be a struggle, Aisley is healthy overall. We feel extremely lucky. CdLS is a spectrum like many disorders. Aisley is non-verbal, feeds through a g-tube, and does not walk yet but she is thriving in her own little way. Aisley is four years old now and the size of an 18 month old. She attends an incredible preschool for children with disabilities. She crawls and cruises along walls and furniture, climbs stairs like she’s on a mission, loves music, and will turn the pages as we read books together. I didn’t expect this life but I cannot imagine my world without my precious girl. I’m lucky to be Aisley’s mama!