By: Maria Isberner, Parent Mentor, Penfield Children’s Center
Imagine being told that your child may never walk, she may never talk and that she will have significant developmental delays. That was what my husband and I were told about our daughter 7 years ago. I had been through many challenges in my life prior to hearing those words, but nothing compared to what I felt in that moment. I was scared, uncertain, upset, sad and quite honestly angry. I never thought I would become my child’s nurse, therapist, case manager and an advocate for her basic needs. Unknowingly to me at that time, that little girl and everything that came after her changed the trajectory of my life.
My daughter, Bree came suddenly and unexpectedly at 32 weeks. She spent the first month of her life in the NICU growing and getting stronger so we could bring her home. When we finally were able to bring her home, that’s when we started to see there was more going on than just her prematurity. She was having constant apneic episodes and was not thriving. There were many times when we had to call 9-1-1 because her episodes were so severe. She spent the first couple months of her life in and out of the hospital.
After many tests and procedures, we finally received her diagnosis. Bree was born with a rare genetic condition called Cri Du Chat Syndrome, also known as 5P-. In the United States, only 50-60 children are born with it every year. Cri Du Chat Syndrome occurs when a portion of chromosome number five is missing. This particular deletion is a spectrum disorder. It impacts a child’s overall development and can impact his/her health as well. There is no cure for this syndrome, however individuals with it benefit greatly from interventions early on in life.
My husband and I were given some outdated information about Cri Du Chat to read through after being given her diagnosis. Most of it was pretty grim but one thing that stood out was information on the 5P- Society. The 5P- Society is a support organization that brings families together from all over the world. Through the Society we were able to make connections with other families. We learned very quickly that Bree will determine her future, not some dated information from the Internet. We also learned that individuals with this syndrome are the most loving, friendly, funny and overall amazing people you will ever meet (and their families are pretty great too!) We have made lifelong friendships with some families and even assisted in putting together the annual 5P- Society Conference in 2017.
My family has faced many challenges and unique situations because of Cri Du Chat. Since Bree was about 5 months old, she has been receiving interventions like physical therapy, speech therapy, occupational therapy, special education, case management and much more to support her development. She is strictly tube fed and receives all of her nutrients through a G-tube. She is followed by many different specialists due to the impact of Cri Du Chat. As she is getting older, the gap in development compared to her peers is getting wider. Some days that thought brings me to tears and other days I feel like I can take on the world.
Although she has been through so much in such a short time, she is so resilient. I am beyond proud to say that Bree is walking, talking and is as sassy as any 7 year old I know. She is funny and brings so much light and joy to my family. The bond that her and my youngest daughter have is beyond anything I have ever seen. Their love for one another is unconditional. This journey wasn’t planned and it hasn’t been easy but it has pushed me to be a better person every single day!