May 13-19 is the first International Cri du Chat Awareness Week, EVER!
Cri du Chat Syndrome, also known as 5p- is a rare genetic disorder affecting 1 in every 50,000 live births. The syndrome is known to result from a deletion in the short arm of chromosome 5 and represents one of the most common deletion syndromes in humans. This condition is found in people of all ethnic backgrounds and is slightly more common in females. They result from a chromosomal deletion that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Cri du chat syndrome is a genetic disorder; it is not an illness or a disease therefore there is no cure. A child born with this disorder has specific physiological problems which can result in their development being delayed both physically and intellectually. They may also have health problems because parts of their physiology have not developed correctly. The size of the deletion and the severity varies among affected individuals.
Individuals with Cri du Chat Syndrome have to overcome a lot of challenges but with the right intervention and support can live happy healthy lives.
When my daughter Sophie was born so sick it was so frustrating. The doctors were not able to pick up on the signs that she was different even though the signs were there. When she was diagnosed at two weeks old it was by process of elimination because the doctors had no clue what was going on. We were handed an internet printout and they gave us the grim future of what her life would be like. That she would not walk or talk and be severely mentally retarded, that was if she survived past the age of 2. My world became a sad dark place until I found the 5p- Society and started to connect with other families with children with CDC. Tiffany Townsend was my first internet contact and my guiding light.
One positive encounter was all I needed to change my life. I started Sophie’s website to share her story and my blog to reach out to other parents and families with loved ones with special needs. Having a child with special needs is not the end of the world, it’s different, it can be very hard but it is also very rewarding and normal. It’s just a different normal.
I have found that very few medical professionals know of the syndrome. It’s frustrating to walk into a doctor’s office and have to explain the syndrome to them. How can my child receive the proper care if the medical professionals treating her are not aware of all the symptoms or complications that accompany the syndrome.
It is our goal to join together around the world. To educate medical professionals, family, friends and the general public. It only takes one person to make a difference. Wouldn’t you love to be a part of that? Read about it, share the information and be accepting. Learn more about Cri du Chat Syndrome and join us to support International Cri du Chat Awareness Week. Let’s give our loved ones a VOICE!