Sophie has Cri du Chat Syndrome Letter

I wanted to share this letter. When Sophie was 4 months old we decided it was time to share Sophie’s diagnosis so I sent this letter to our family and friends…….

 

August 2009

Sophie has been diagnosed with a rare Genetic Disorder called Cri du chat Syndrome,also known as Cat cry Syndrome.

Research                                                      

 Cri Du Chat Syndrome (CDCS) is a rare chromosome disorder affecting approx 1 in 37,000-50,000 live births. The syndrome is known to result from a deletion from 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 as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Humans usually have 23 pairs of chromosomes in each cell of their body. These are named in pairs 1,2,3,4,5,6 etc. A chromosome consists of smaller components called genes which contain instructions in a code made up of proteins. This code contains the plans or blueprint for each human being. When something goes wrong with the chromosome in the process of creating a new human being, the code cannot be read properly and the child’s body and brain may not develop correctly. When a problem results from this genetic mistake it is called a genetic disorder. 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. Remember, nothing the parents have done has caused this deletion to occur.  Affected people typically have no history of the disorder in their family. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and developmental delay than smaller deletions in people with cri-du-chat syndrome. Children with cri du chat syndrome can lead happy, fulfilling lives as valued members of their families and communities.

Our Message                                                                                                           We have decided to open up to family and friends about Sophie’s disorder. We don’t ever think something like this can happen to us. You think if you do everything right it will all turn out fine. Life does not work that way, sometimes we have no control over it at all.  Sophie has already brought so much more love to our family, her tough start in this world has taught us to look at life in a different way. When we found out that Sophie has Cri du chat syndrome it felt as if time had frozen for us, we questioned why this would happen to us. There are no answers to our questions because the answer is far beyond our understanding. We have accepted our reality and our focus now turns to our children not just Sophie but our entire family. So far Sophie has escaped severe medical complications that are usually caused by the syndrome. All of her vital organs are normal and she has been developing normally. Most of Sophie’s health issues have not been related to the syndrome. We are blessed because out of all the physical and medical features caused by this syndrome Sophie has only minimal symptoms. Only time will tell if Sophie will have any disabilities; there is no way of knowing what will happen not even the doctors can tell us. We have tremendous faith in GOD he is ultimately her protector we have seen his work in her already.  We ask for good thoughts. We ask not for sadness but for encouragement and support. Please do not feel sorry for us, we are not experiencing a loss, we are celebrating a new beginning. Knowledge is power and with this power we will ensure Sophie has all the support she needs to live a happy, healthy and fulfilling life. We appreciate all of the love and support we have received so far. We truly feel blessed to have her in our lives.                                                                                                                                                                                                                             ~Deleon Family~

Personal Note                                                                                                            I know GOD has a plan and there is a reason Sophie is here. I believe she is here to teach us, she has already taught me so much, what the world will learn from her is not yet known but I am sure it will be wonderful!                                                                                                                                                                                                                                                                     ~Charity~

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3 thoughts on “Sophie has Cri du Chat Syndrome Letter

  1. Pingback: 2012 Recap « Life's Unexpected Blessings

  2. RonniN

    This is a wonderful, heartfelt, and very brave way to let your family and the world at large know about a situation that I’m certain many loving families have had to deal with. I have only one little girl, but I think I can relate to your feelings as a mom, at least on some level. Kudos to you for your honesty and courage! I look forward for reading more about the milestones and triumphs of your beautiful little girl, Sophie.

    Reply

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