International Cri Du Chat Awareness Week!

International #CriDuChat Awareness Week 2014

Cri du Chat Syndrome is a rare genetic disorder affecting one in every 50,000 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.

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.  Individuals with Cri du Chat Syndrome face many challenges; they will most likely require ongoing support from parents, therapists and medical and educational professions but with the right intervention and support, can reach their full potential and live happy healthy lives. Knowing that there is hope if provided with accurate and up to date information is crucial in helping families cope and adjust when a loved one receives a diagnosis of Cri du Chat Syndrome. 

Families of loved ones with Cri du Chat Syndrome aim to share the most up to date diagnosis and support information available. We are joining together with families  from across the globe  to send a message to the world. That Individuals with Cri du Chat Syndrome deserve to be recognized for what they can do versus what they cannot do. We aim to spread awareness and educate  the world by sharing our stories, up to date support information and especially to educate the medical field in hopes that inaccurate and outdated information will be corrected to reflect facts and up-to-date information about the syndrome. We want to reach  all medical professionals especially pediatricians, OBGYN doctors and maternity ward nurses who are our first line of defense when it comes to diagnosis.

*Sophie’s Story – Palm Beach County, Florida 

After weeks of being in the Neonatal intensive care unit not knowing what was wrong with their fifth child Felix and Charity De Leon received the devastating diagnosis. The doctors walked up to them with an internet print out in hand: “Your daughter has a very rare genetic disorder called Cri du Chat Syndrome. She will most likely not survive past the age of two, and if she does she will be in a vegetative state; never having the ability to learn, to walk or even talk.” To say that they were devastated is an understatement. 

Unfortunately the doctors relied on inaccurate and outdated information from over 30 years ago, greatly exasperated one of the most difficult pieces of information these parents may ever receive in their life. 

“For many parents whose children are diagnosed with Cri du Chat Syndrome, this is exactly what they have experienced,” says Mrs. De Leon, 34 resident of West Palm Beach, FL and mother to five-year-old Sophie with the syndrome. “But it doesn’t have to be that way. If there was accurate medical information available and more awareness and education a diagnosis does not have to destroy the hopes and dreams a family has for their loved one. 

Cri du Chat (also called 5p- Syndrome) is a rare genetic disorder caused by the deletion of the “P” region of the fifth chromosome. French for “cry of the cat,” the syndrome is named for it’s distinctive kitten like sound that infants affected by the syndrome make when they cry, caused by a malformation in the larynx. Even in densely populated metropolitan areas it is not uncommon for medical professionals to have never seen a case or even be aware the syndrome exists. 

According to this mom, Cri du Chat frequently goes undiagnosed. “You have children suffering from unexplained health issues and developmental delays. It is incredibly frustrating for parents who want the best for their child,” she said. This is particularly so in cases where there was a normal pregnancy and the baby is born with no life threatening medical problems. But, diagnosing a child can be difficult even when there are enough signs; and many will go undiagnosed for many months and some even years. 

“In Sophie’s case there were signs,” said Mrs. De Leon. In particular Sophie’s cat like cry. Sophie was also born with some of the typical Cri Du Chat Syndrome characteristics which include low birth weight, microcephaly, wide set eyes, low set ears, small chin, round face and low muscle tone. Despite the many signs no one suspected the possibility of the syndrome and it was only by chance when they were out of options that doctors suggested a full genetic analysis. That analysis confirmed that Sophie did infact have Cri du Chat Syndrome. 

Mrs. De Leon’s  daughter was born with life threatening complications and an array of medical issues that would change hers and her families life forever. “It has been five years since Sophie was born, from the moment she took her first breath I knew there was something different about her. While my daughter’s case does include severe medical complications including a rare lung disease and sinus disease which resulted from the syndrome. Not all individuals are affected by such severe and life threatening medical complications.”

“I thought my daughter was going to die, I was living in a nightmare. I gave up my job and our families financial security to ensure that I would be there with her through her last moments. Living in that place of fear is devastating and debilitating. With each sickness and new complication the thought of her dying soon turned to hope of her living and our family geared up for the fight of our lives to keep our girl alive. I became obsessed with the Syndrome and educated myself; soon I would discover that the information given to us about our daughter the day she was diagnosed was completely inaccurate. In that moment I knew I wanted to be a part of educating the world about Cri du Chat Syndrome.”  

“Sophie is truly our miracle child, while Sophie is one of those cases with life threatening complications from the syndrome we are very lucky she is alive. We have an amazing team of doctors who are educated on the syndrome and who have fought to keep here here with us. We have also been blessed with a huge support system of therapists, friends and family who accept and love Sophie for who she is. And that makes a world of difference”. Said Mrs. De Leon.  

Mr’s De Leon writes about her journey as a mother to a child with Cri du Chat Syndrome at www.mydanceintherain.org and is a member of the 5p- Society. The U.S. based support group for parents and caretakers of family members with Cri Du Chat Syndrome. The Society encourages and facilitates communication throughout the Cri du Chat Community and spreads awareness and education about the syndrome and treatment best practices  for those affected by Cri du Chat Syndrome. 

PLEASE TAKE A MOMENT TO WATCH AND SHARE THIS VIDEO; #CRIDUCHAT SOPHIE I CAN

If you’re having trouble loading the video you can try our YouTube link:

For more information about International Cri Du Chat Awareness Week, including information for medical professionals and diagnosis and treatment of the syndrome, visit:

http://www.criduchat.org

For the 5p- Society

 Laura Castillo, Director
 1-888-970-0777
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