Tag Archives: sister sophie

Out of mind, it’s just impossible.

Recently I started trying to move on from my harsh reality, thinking that if I put all the awful things I have to deal with out of mind that I could somehow function better. That, somehow the breath-taking pain would not be so overpowering. I was wrong. It’s not possible. Moving on from the focus of having a child with special needs is really hard because those “special needs” affect life’s everyday functions and as much as I can try to make it seem as if it’s not there and it’s no big deal the reality is that it is there and it is a very big deal.

Sophie has made huge strides in the last year cognitively, she is amazing us everyday. She understands so much and is so present in so many ways, learning to participate in daily functions with more ease. One of the biggest challenges I am facing with her right now is the fact that she wants to participate in those functions that she sees everyone else incorporating in their everyday. She want’s to go outside and play, every time we grab our shoes or keys she’s at the door. She knows that she needs her shoes to go out so she runs to the closet to grab her shoes and takes them to whomever is around to get them on her.

The challenge is that she does not understand why she cannot participate in these daily functions. She doesn’t have the cognitive capacity at this moment to absorb the fact that she could die if she is exposed to certain bacteria. She just knows that she wants to do what everyone else does. And she is determined, she will stand at the door for hours if necessary to get her point across. It ultimately ends with a twenty or thirty minute car ride because I do not want her to feel completely left out.

How can I keep these things out of mind? When I try to coordinate something for my family my first consideration is how can we include Sophie and many times it’s just impossible. Recently I have had to turn down birthday parties because they are held in places that are considered death traps for Sophie, (check-e-cheese, for example). It’s not fair to my other children but there really is no other option than to decline these invitations.

And then there is her health. I put off doctors appointments for some time because we just needed a break, she has been doing exceptionally well except if we skip a day of antibiotics. She has gained weight and looks amazing but the reality is she is a sick child. I tried to avoid thinking about that and then I took her for a follow-up Pulmonary visit. The visit was good, the doctor was happy with how she looked physically and her lungs sounded pretty darn good despite all she has to deal with. This is thanks to her compression vest, I love that machine.

Then we talked about that dirty little disease that could take my daughter’s life, PCD. We talked about how important it is to begin to track the deterioration process and we will have our first comparative scan of her lungs in a few months on our next follow-up. We talked about how critical it is to slow down that deterioration process because if she develops Bronchiectasis there is no going back. The only thing that would save her would ultimately be a lung transplant and the HARSH reality is that this world discriminates against individuals with special needs and no one would perform an organ transplant on an individual with special needs because they are not deemed productive members of our society. As disgusting as it is to deny someone life it is reality. I could see the sadness on her doctors faced as we discussed this dirty truth.

My truth SUCKS. My reality SUCKS. Trying to live my life with all of this out of mind is impossible, I try my best to hold it together but sometimes I just have to give in. I have to scream and cry and feel Just to find the strength to keep going everyday.

Moments like these I hate Cri du Chat Syndrome, because this disorder is the cause of this lung disease and all the other medical complications my poor innocent sweet girl has to live with.


Sophie, your 5


Hypnotized by the SunSet. God is smiling upon her.

Sophie, you are 5. Five years old, it feels like just yesterday that you took your first breath. You have amazed me and all those who have been lucky enough to be a part of your life.

You have taught me the meaning of True Unconditional Love. You have taught me patience, acceptance and equality. Because of your existence I can now see the world with clarity, the bad with the good. Fighting for you has taught me the true treasures of life, family. For there is no greater love than the one a parent feels for their child. I love you with the same force that God loves us, his children.

You are a gift. You are my symbol of hope, my inspiration. Your family loves you more than words can describe. You leave an everlasting imprint on those who open their hearts to you. You are loved by so many! You are perfect, as perfect as each one of your brothers and sisters.

Five years. Five amazing years full of tears and laughter. I pray that God allows you to celebrate many, many more years to come, my beautiful little girl.

I love you!

Happy Birthday.



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. 


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


For the 5p- Society

 Laura Castillo, Director

If you saw me….


If you saw me would you realize that I am unique?

If you saw me would you know that I perfect in every way?

If you saw me would you feel the peacefulness that radiates from me?



If you saw me would you know that I am a little sister?

If you saw me would you know that I am a big sister?

If you saw me would you know how loved I am by so many?

If you saw me would you know that I am like you, but different?


If you saw me would you know that I have #CriDuChat Syndrome?

If you saw me would you think that I was five years old?

If you saw me would wonder why something about me draws you in?

DSC_0159If you saw me would you know? That I was born with #CriDuChat Syndrome. Like you but different. Would you know that my family loves me just the way I am. Would you know that no matter what obstacle life throws at me I see no limits. Would you know that my family and friends pray for me and Thank God for me every day. Would you have any idea that I am uniquely perfect by the grace of God?

You would. If you would listen. You would know about me if you would open your heart and mind to more than what you know. You would know me if you would drop the veil of differences and see me. Me. Sophie. A little girl, full of love, laughter, life and strength.

If you saw me, truly saw me; there is so much you could learn from me. Open your mind, open your heart and see me.


Her first real Mama.


Sophie is my little miracle, she is truly my inspiration. Sophie has begun to leave me baffled in so many aspects of her development, it’s awesome!!!! A lot of those milestones we were told she would never reach she has already surpassed, we are so thankful for those amazing moments.

Sophie began to imitate the word “mom” several months ago, it was huge! There was a time when I thought I would never get the opportunity to experience these moments but as I have learned what we think about our lives and God has planned for us can be completely different.

For months when Sophie was asked to say momma she would, it would take the persistent request from me or a single request from Emily her big sister but she would comply. It was awesome to hear her vocalize a word, any word but especially “momma” even though it was prompted.

It was about three days ago, I walked in from a long day away from her and to my surprise Sophie ran to me with her arms up in the air and as soon as I embraced her and picked her up she said “mamma”. IT WAS AMAZING!!!!!!!! 

I could not believe that she finally got it, I am “momma”. I could not help but allow the tears to flow, how could I not. These are the moments we live for, those unexpected moments more powerful than any we thought possible and more poweful that we could have ever imagined.

She called me “momma”!!!!  

These are the moments God speaks to me, he tells me he loves me and hears all my prayers without saying a word. He knows what my soul longs for to elevate me to that place of inner peace and love and he gives me just that. HE IS AWESOME!!

Some may not understand the power of a single word, a single word can change your soul. A single word can change your faith, a single word can be that miracle you’ve spent your life waiting for. And, if that word and the association of that is against all the odds that were given what is left but a pure miracle.

Something I have never shared about Sophie is that she has Periventricular Leukomalicia. Periventricular Leukomalicia,  is a brain injury that affects infants. It’s  a condition that involves death of small areas of the brain tissue around fluid filled areas called ventricles. The damage creates holes in the brain, “Leuko” this refers to the brains white matter and “periventricular” refers to the area around the ventricles. PVL in much more common in premature infants than full term infant; since Sophie was born at 37 weeks but was 32 weeks neuroloigically she was considered a preemie at birth. There is still no clue as to why or how this happened to Sophie as I had no physical injuries while she was in utero, they can only suspect that it could be from a traumatic birth.

If I begin to dig deep into Sophie’s journey it becomes to unbearable for me, it helps me realize I am not yet where I truly want to be. Her journey still hurts, more than any pain I have ever endured in this life. It is as present as the day she took her first breath, and through it all I am so grateful for that first breath. But, it is there. That lingering heaviness, that feeling that something is not right.

Sophie’s existence is a miracle, her doctors do not understand how she is still alive. But. she is!

I must keep going, I must continue to move forward. These amazing moments are the ones that help keep me going, the ones that help me move past the fear that can easily over power me. Through it all there is hope and that will never end, how could it.?

She said momma, she ran to me with her arms ready to embrace me; she looked into my eyes and said “momma”, she knew who I was, she wanted me and made sure I knew it. She said it, her first real “mamma”.

Despite ALL the complications, despite the grim diagnosis’ Sophie wants me to know she is there, learning everyday and becoming the person she was meant to be. Only because that is who she was meant to be without the diagnosis’s, the disabilities and the limitations. This was who God intended her to be and that is enough.




Why I hate the R-word


Yesterday another CdC mom posted about the use of the R-word on facebook, after I commented on her post several times I bowed out of the stream because, well….I will not fuel ignorance. I refuse to allow myself to argue with ignorant close minded individuals who cannot see passed what they want to see. The more I try to educate people the more disappointed I am in the direction our society is headed in.

I HATE the words Retard or Retarded, the same way I HATE the words faggot or Niger; those are words that are used with malice and hate. We live in an era with so much technological advancement but despite our many advances as a human race we have yet reach to the most important achievements in ourselves. Acceptance,  Peace, Understanding and Love. It starts within ourselves, we must love ourselves not who we think we are or the material things in our lives. Instead what we see are people obsessed with vanity, huge ego’s, negativity and hate, and believe it or not it all ties together. Sadly this is what our younger generation is learning and this is why it is so important to educate people, especially the younger generation.

The R-word is a hateful, sad word. It has been and is still being used as a way to describe someone who is worth less than another, that is wrong. We are all worth the same, a human life and there is no price tag on that. We are ALL different, there are no two people exactly alike in the world, think about how boring the world would be if we were all the same.

People defend the use of the word and say it’s use is no big deal that it is taken out of context, that is only what they tell themselves so that they can continue to use it and feel no remorse for the lives they may affect.

ANY word used in a hateful, demeaning and insulting manner is WRONG.  Words matter, a simple hello or goodbye could change a person’s life forever, and I will never understand why people think it is ok to use negative words like the R-word. The R-word is a word that has been used to separate, discriminate and demean others since it was first originated. Saying it in a joke or to a friend does not erase the essence of the word, the word is tainted by the affected lives that follow it, by the pain it has caused and continues to cause and the lives of those forced to live in the shadows because of it.

I was never a fan of that word even before I became the mother of a child with Special Needs, but being on the receiving end of the word is more heartbreaking than people imagine. It is difficult for many to understand because they do not know the pain that follows the word. It can be devastating and is devastating.

We must choose not to use hate, we must choose to want to make a difference. This is our world, these are our children. What are we teaching our younger generation if we remain in silence if we do not find the strength to speak up, and teach wrong from right.

We all have a choice between good and bad, we are all taught this as children as we are all taught that actions have consequences, a word can be just as devastating as an action. The choice is yours but think about where our civilization will be in thirty years if no one speaks up, or stands up to make a change, to do what is right.

 End the Word 2013

The R-Word and why it’s wrong