Cri du Chat Syndrome

The Internet is outdated.

Sound strange? It does to me. I was a product of the late 70s and 80s. The Internet didn’t enter my world until I was in college. I had a hard time letting go of the library as a place for recent, reliable resources and the Encyclopedia Britannica for my research. Now I can’t imagine it any different.

When my son was born and diagnosed with Cri du chat, pronounced [kree doo shah], Syndrome of course I instantly Googled it. 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. And often it is way better than you thought 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 started to read mom blogs about my son’s syndrome. But then one day while finding more not good information I literally couldn’t pull myself together to care for my children. I had to call a friend to take my oldest child away from me for the afternoon. I spent the rest of the day OFF the computer and instead filling my mind with Truth and fighting for what was good and true and right.

I began to realize that those blogs where moms would only “vent” and talk about how awful it was to have a special needs child where not the same moms who I would be friends with in person. There were a handful of moms blogging about having a special needs child who were hopeful and encouraging. They were putting verses on their pages. 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.

Until now I haven’t spoken much about the specifics of N’s syndrome. I’ve wanted to focus on who he is as an individual not stereotype him as a diagnosis. However, there are some interesting things about the syndrome that have been helpful for me to learn. And since it’s it’s Cri du Chat Awareness Week I thought I’d share some of them with you. 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 disability.

What is Cri du Chat Syndrome? 

Most everyone is familiar with Down Syndrome. It has become the most recognized form of cognitive and developmental disability. Approximately 1 in every 700 babies are born with Down Syndrome.

Not many people are familiar with Cri du Chat Syndrome. Only 1 in about 50,000 babies are born with Cri du Chat (also known as 5p-). However, it is the most common deletion syndrome.

>Down Syndrome was characterized by John Langdon Down in 1862, however it was Jerome Lejeune who, in 1959, discovered that an extra copy of chromosome 21 as the cause. The new karyotype techniques of the 1950s led to this French physician also identifying Cri du Chat Syndrome as the absence of genetic material on the 5th chromosome in 1963. That’s not that long ago y’all.

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 has a medical background, kept asking me hours after our son was born if his cry sounded like a cat. He knew something was off.

The break of the 5th chromosome most commonly happens spontaneously at conception when part of the genetic material breaks off. In 10 to 15% of cases one parent is a carrier of the abnormality known as a translocation. It can be present in several generations of the same family without ever having any symptoms or being identified.

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. 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 – walking, communicating, even working. And with the early intervention therapies available today, there is so much more help, and hope, available for the challenges these children face.

To learn more about the characteristics someone with CDC may or may not have visit:

We don’t bury our heads in the sand and expect that N will live a completely typical life. However, we do look expectantly towards what God will do through his life and spirit. He has already taught us so much about what is truly important – unconditional love and eternal life.

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!


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