Tag Archives: Primary Ciliary Dyskenisia

Our Diagnosis and moving past it.

Sophie 8.2015Over 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.

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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.

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Dear Sophie, you are 6

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Today I want to take a moment to celebrate Sophie on her 6th Birthday!

Today is the magical anniversary of her birth, the day that changed my life forever. My amazing little girl who would be the key to my own self-acceptance and growth. Who would have imagined that my fifth child would be the key to truly understand the meaning of life?

Dear Sophie,

Today is your sixth birthday and there are a few things I hope you will one day know. When you are older I will read you every letter I have written you so that you may know just how amazingly loved and special you truly are.

Like a phoenix you always rise from the ashes, there is no darkness you cannot illuminate. Your presence is powerful. You emanate light and happiness even in your toughest moments.  You are everything a person should aspire to be. Strong. Determined. Loving. Beautiful. Smart and above all, Happy.

Your soul is pure perfection, a small glimpse of the pureness of heaven. You are our gift, we are the ones that are lucky to have you in our lives.

You see the world differently than most of us do, you see it in real-time while most of us are in auto pilot just gliding through it. The world is a loud and crowded place and you can see that with clarity, I know that with certainty. But you can also see the beautiful wonders the world has that most people take for granted. To watch you live is such a beautiful experience as I see you absorb every moment and live it completely.

I would have never grown to be the person I am today without you. Being your mother helped me to understand life. You taught me to live in the moment and love unconditionally. Being your mom has made me a stronger woman. I pray for you more than I pray for myself and that gives me joy. Through your life I have come to know God’s love for us, his grace and his miracles.

You may have been born with a missing piece of chromosome 5, and so many horrible sicknesses but God has surely blessed you with life despite what nature had in store for you. You are complete. An amazing soul and wholeness many will never experience and many too blind to see.

There is so much I could tell you about how much we love you, and how much you mean to so many of us but words just cannot describe the grandiosity of it all.

You are amazing! You are my daughter and I love you always and forever.

My shining star!

HAPPY 6th BIRTHDAY NINA!!

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When I was afraid.

There was a time when I was so afraid of the unknown that it consumed me, while I don’t live in that place anymore keeping the fear away will always be a work in progress.

When Sophie was diagnosed with Cri du Chat Syndrome I went through several phases before I reached acceptance. My first struggle was with denial, I just could not believe that this was happening to me. I did not want to have a sick child or a child with developmental delays. I was mad, mad at God and the world. I felt betrayed by God, I screamed at him a lot. I broke up with him, turning my back on my faith not understanding why he would do this to me.

With time that anger turned to fear, the anger began to dissipate very slowly and I began to breathe again. I became obsessed with the syndrome, I think deep down I was searching for answers as to why this had happened to my daughter, to me. I eventually realized my questions would have no answer that would satisfy me and I had to let it go.

I remember reaching out to a handful of parents via email when Sophie was only a few months old. Some responded, others did not but those that did respond were honest and through their words I could feel their pain. It scared the hell out of me. I was already scared of the unknown future that awaited me but now knowing how hard it could be terrified me. I never responded back to those parents because of fear. Later life would lead me to meet some of those parents face to face, the ones I had reached out to but never responded back too. And, they remembered me. I felt embarrassed that I never responded back to them after they took the time to write me through their pain. For that neglect I am truly sorry and I thank them for being so honest and letting me into their lives.

Now I am one of those parents. My daughter is growing older chronologically while her development is growing more and more delayed with each day. And it is HARD. But, the fear I had was so much worse than what my future has turned out to be.

When I was afraid it impeded my healing process. When I was afraid it shadowed the possibilities that lay ahead. I am no longer afraid. I have fear but am no longer afraid. I moved passed it and have hope, I refused to allow myself to be afraid all the time.

When I was afraid I wasn’t living, I was wandering through the dark searching for a glimmer of light. When I refused to be afraid for the rest of my life the light began to shine into my life again.

I am no longer afraid, it was not easy but I learned to accept and overcome my circumstances. Being afraid will only destroy you, I won’t let it destroy me. Ever again!

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