Our Diagnosis and moving past it.

Over six years ago when I received my daughter’s diagnosis, I had no idea how that moment would change my life forever. My newborn baby girl was very sick and she had this rare genetic disorder that would most likely not allow her to live passed her first two years of life. And if we were lucky enough that she would survive she would not walk, talk or have the ability to have a productive life.

I focused on her diagnosis for quite some time until I began to realize it was not just her diagnosis, it was our diagnosis. This diagnosis took hold of my family’s life and slowly begin to break us down, it led to fear and down a road of little or no expectations. And it did because I allowed it to.

I am in no way an expert of being the parent of a child with different abilities, I continue to learn each and every day and one of the things I have learned is that just as our children are all different in their own ways so are we in the ways that we cope with our realities. My way of coping was acceptance and letting go.

When I focused on a diagnosis it hindered my expectations of my child, it limited her in my mind and that was unjust. Yes, my daughter has a rare genetic disorder, a terminal illness and she is developing skills at a different pace than most of the world but that is OK. I may never understand why she needs to spin every plastic bowl in my house constantly or why she needs to chew my furniture or why she pinches or bites when she is excited or overwhelmed. But I know that she is happy, that she is learning and that she is flourishing in her own way and for that I am grateful.

Today I find myself surprised at the way some are astonished with my daughters progress, I find myself saying to people “of course she understands and that she is not a baby anymore”. I assume it is because I see her for who she is, a six-year-old little girl, my little girl who is growing and learning against the odds.

People constantly ask me how I can function with the devastating truth that my child has a terminal illness or that she is not typical. The truth is that it is not easy but I don’t think about it. I live for today and tackle the obstacles we are faced as they arise. Tomorrow is never promised to anyone, despite whether a person is sick or healthy. If I allow fear and heartache to debilitate me than I am not only giving up my life but I am affecting the lives of my children and everyone who surrounds me. So I choose to just live with no strings attached to weigh me down.

This past Saturday I allowed Sophie to play outside on her trampoline on the patio for a little while, when dinner was ready I called her in. She stood there and stared at me for a moment, pondering what I was saying and what she wanted to do. She then walked up to me, closed the french door in my face and climbed back into her trampoline. She had a big smile on her face then waved “bye” at me. These are the moments I live for, the moments that she shines through. The moments that validate that letting go of the pain and labels enables me to fully understand and enjoy the value of her life and our journey.

Today Sophie can walk, she does not speak other than the occasional mama and the attempts at vocalization but she can communicate. Speaking is not the only way to have a voice and while I once believed that to be the only way I would ever understand my child I see now that those were the limits I was setting for her and us. Sophie does have a productive life and her life is essential to all of us who love her.

I had not realized how much like me she truly is, strong-willed and defiant. She is a fighter, she is kind and loving. She has taught me more in her six years of life than all the years I had lived before she blessed us with her arrival.

We have our diagnosis, we were given our labels. But I have chosen to move past it, I refuse to live within the confines of labels and little expectations. The world is a rainbow, I will embrace the different colors around me and let them shine, in the end life is what we make of it.

Pulmonary Update June 2015

I took the day off of work yesterday to take Sophie to an ENT and Pulmonary follow up. Her doctor’s visits have become more spaced out as our treatment plan for her has been successful. She is basically in a bubble. She cannot go to school and we have to limit exposure to the outside world drastically, I do take her on a grocery outing with me once a week if she is having a good day. But if she is showing signs of a struggle she cannot go out or her symptoms take a turn for the worst very quickly. And even these small outing can cause a disaster if the weather is not agreeable.

So we headed out to the ENT for her follow up and we were lucky to have a good visit, we discussed her recent sinus infection episode which was pretty bad, but decided that despite that episode her sinus disease has been controlled nicely.  One or two sinus infection in six months was really good when you consider how she struggled in the past when she had them for months at a time with no breaks in between. So we will be back in six months if all stays well unless we need some back up medication to add to her daily regimen which could happen but we remain hopeful that it does not.

Following that visit was the pulmonary visit which I’ve dreaded since we received the PCD (lung disease) diagnosis. Last week Sophie had x-rays done as the doctor wanted to start tracking the deterioration process of Sophie’s lungs.  It was hell to even get the scans because she fights you every step of the way, and that visit to have that done was emotionally exhausting.

The scans were not good, the doctor stepped out at one point to look at the x-rays to be sure that the report was accurate. Her bronchioles are inflamed, this could be the start of the deterioration that we fear. I could see the sadness and concern in the doctors eyes, he is a wonderful doctor and truly cares deeply for my precious girl. I felt like a truck hit me at that moment, I was not expecting this news.

The hardest thing I have had to do in my life has been to learn to live my life with the difficult truth that I will one day have to say goodbye to my child.

He began to talk about the inevitable truth and reality of what will happen to my child as her lungs deteriorate. What we will do as we fight to try to slow down this process and how we must prepare for the worst as there is not much that we could do to slow it down and there is no stopping it from happening. DAMN lung disease, how I HATE you!

Words could not describe the fear that consumed me and continues to consume me, I held my composure as long as I could almost caving as we continued our visit. He took the time to talk with me, honoring everything we have done to help Sophie have the best life possible. And after that long session he stood at the door just admiring my girl as if not wanting to turn away. The sadness in his presence almost made me lose it, but I held on just until I made it out of his office and then I caved.

Once I strapped her in her car seat I sat there as cried hysterically for a good five minutes and allowed all those emotions to pour out of me before I called my husband to share with him the newest update. His silence to all the news was powerful, this is a journey we must travel together and staying strong is not easy.

I try not to think about it, that is how I get through each day. But each time I am forced to face the truth I find it harder to regain my strength. Today is hard, I just can’t hold back the pain and finding consolation in my faith is harder than ever.

The injustice of life is just too hard for me to understand.

Mothers Day 2015

I truly miss writing but my life has undergone many changes and I am at a place which spares me no free time but I am working on making a comeback to my blog. I miss the writing but I have learned that there is a level of privacy I did not appreciate before that I now incorporate into my everyday life.

It is the simplest of moments that fill your heart and today was a day full of wonderful simplicities.

I was up at the crack of dawn since my internal clock doesn’t have a clue that it is the weekend but it was totally ok because I enjoyed the little while of quiet it awarded me. When my husband woke up we decided to head out for some Cuban coffee, our weekend treat. Sophie decided she would join in on the outing so we made it a morning of grocery shopping. Sophie was so happy to be out of the house, it is so amazing to see her simple happiness. She looks out the window while we drive and I do nothing but wonder what it is that makes her smile with so much happiness, the sun? Or maybe it is the trees or the clouds, who knows but I know I would love to feel her happiness even if just for a moment. Pure perfection.

I got to buy Sophie a new pair of sandals which she wore all day long, and Tristan got some new shoes too. They were both so excited, what a wonderful feeling it is to watch my children and know I fulfilled my biggest goal in life. When I became a mother all those years ago I vowed that I would do my best to give my children the best life I possibly could. I vowed that they would never go without, and that I would fill their lives with love and happiness. When I look at my children I know that I have fulfilled that goal, it is the simplest moments that are the most transparent.

I decorated a few cakes, ran a few loads of laundry and sat and chatted with the older kids a while. I had a really long shower which followed with a bath with my favorite girl. Nothing like sitting with her in the water, running my fingers through her curls as the conditioner worked its magic. Watching her giggle as she put her hand under the running water and basking in the moments I thought I would never see with her.

I gave myself a pedicure and even found and extra hour to blow dry my hair. To most this in not a big deal but for a mom who leaves the house and doesn’t come home for eighteen hours. A mom who goes days without seeing her toddlers awake. A mom who leaves for work and comes home to shower and sleep to wake up and do it all over again. A mom who misses the daily activities of her home this was a very pleasant treat.

In the evening the hubby made dinner as I sat out on the patio with the kids while they played just relaxing with my glass of wine. And I even got to fit in a blog post. Fabulous!

Some may think this is a boring and even uneventful day but for this mom, this was a perfect day!

Mothers Day is not one day out of the year, it is everyday. It’s not about the gifts at all it is about so much more. This was the first mothers day in many years that my husband gave me a personal gift and if he would not have I would not have been upset. He took a necklace he had given me for my 16th birthday and had the name plate removed and added a beautiful crucifix. He used something old to recreate something new, something to reflect who I am today not who I was twenty years ago. A very powerful gift for me, now I have a symbol of my faith with me always.

Who I was yesterday is not who I am today. I once felt as though gifts were important that was back when I was a Diva and sported a lot more jewelry and fancies than I needed to have. After Sophie’s birth our life began to spiral out of control, we were faced with so much heartache and were learning to accept the loss of the life we had known.

We found ourselves completely broke all of the sudden. All of our money gone in medical bills, doctors visits and medication for our little girl. I gave up my job to care for her full time and, my husband got laid off and with that also came a run of very bad luck.  We began to see life with a new perceptive. Those things we once valued and thought were important were not as important as we once thought. Slowly we began to sell it all, including my diamond wedding ring that I LOVED and waited years to have. But my children needed to eat, we had bills to pay and my family was worth more than any material item we could possibly possess.

Today with a new-found appreciation of life that this journey has taught me I could say that I had a wonderful Mothers day, I couldn’t have asked for more.

International Cri Du Chat Awareness Week!

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

director@fivepminus.org

www.fivepminus.org

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?

If 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.