Originally posted May 7, 2015.
When my son was born and diagnosed with Cri du chat, pronounced [kree doo shah], syndrome of course I Googled it as soon as I could get my fingers on my phone. The information I found was overwhelming and scary and not much different for what my geneticist was giving me. It was no good news.
But any mom of a child with a rare condition will tell you that no one can tell you what your child will and won’t do. Often the outcome is better than you imagined at the outset. Everything that I was reading was telling me what these kids weren’t doing. I wanted to know what they were doing. For me to find hope in other stories I had to go digging.
I scoured the internet for special needs blogs. I quickly learned of blogs where moms would only “vent” and talk about how awful it was to have a special needs child. I had to stay away from reading those stories. There were however, a handful of moms blogging about having a special needs child who were hopeful and encouraging. They were uncovering blessing in something that looked so awful from the outside. They were listing what they were thankful for and celebrating small victories. I would go back to those sites everyday desperate for more of their encouraging words.
From the beginning I’ve wanted to focus on who Nathan is as an individual not stereotype him as a diagnosis. Because no diagnosis can account for temperament, talents, environment, and the work and grace of God in a person’s life. There are however, some interesting things about Cri du chat syndrome that have been helpful for me to learn. And since it’s Cri du chat Awareness Week I thought I’d share some of them with you. Ultimately the best resources I’m finding are other parents who also desire to have a healthy, balanced approach of being both realistic and hopeful in light of their child’s disability.
What is Cri du Chat Syndrome?
Cri du chat Syndrome (also known as 5p-) is a genetic deletion syndrome which occurs in about 1 in about 50,000 babies. It is defined as the absence of genetic material on the 5th chromosome. The break in genetic material most commonly happens spontaneously at conception. The syndrome was discovered in 1963 by French physician, Jerome Lejeune, the very same doctor who identified Down syndrome.
Cri du chat is French for “cry of the cat.” Often the cries of a baby with Cri du chat syndrome resemble those of a cat which is why my husband, who is a PA, kept asking me hours after our son was born if his cry sounded like a cat. He knew something was off from the first day.
Some experts will say that the severity of the case can be linked to where the break occurred along the short arm of the 5th chromosome. (Nathan’s is very severe.) However, anecdotal stories will tell you something completely different. Some kids thought to be on the severe end of the spectrum are functioning beyond what was ever expected of them. There are kids with Cri du chat syndrome who end up walking, communicating, even having jobs and living independently. The early intervention therapies available today offer so much help, and hope, for the challenges these children face.
We don’t bury our heads in the sand and expect that Nathan will live a completely typical life. However, we do look expectantly towards what God will do through his life and spirit. We wait, and pray, and do lots of therapy. Lots. I am slowly beginning to see that Nathan is not just a special kiddo who requires a lot of from us. He also has a gift for us to receive from him. He has already taught us so much about what is truly important – unconditional love and eternal life.
This video will give you a bit more of a picture of life with Cri du chat syndrome.
I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well.” -Psalm 139:14
My book, Beauty in Broken Dreams: A Hopeful Handbook for the Early Years as a Special Needs Parent, is now available on Amazon!
Also be sure to check out my list of Favorite Books on Disability!