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.

Dear Sophie, you are 6

Today I want to take a moment to celebrate Sophie on her 6^th 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 6^th BIRTHDAY NINA!!

End the Word 2015

Today is the 2015 “End the Word Day”!

I am joining the many strong individuals who will fight for what is right, to stand up for our families, friends and communities. We are using our voices to STOP the HATE, we must stop the discrimination and degrading of individuals. Together we can make a difference!

Many of us used the word retarded or retard as children and sadly many still do. It’s ugly, it’s not just a word it’s a feeling. The r-word is offensive, derogatory, insulting, cruel, discriminating and it’s continued use is just plain WRONG. Change begins with us, it only takes one person to make a difference. Imagine how many lives we can change when we are united, when we are many. We must teach our children to be kind and accepting. There are no two people alike and there never will be. We are all created equal!!

This is my beautiful AMAZING daughter Sophie. Sophie has Cri du Chat Syndrome, born with a missing piece of the short arm of chromosome 5. We were told she would not survive and would never function because she would be mentally retarded. Sophie is “developmentally delayed” but perfect the way she is. Sophie is stronger than anyone I know and SHE IS NOT A LABEL! She is my daughter!

In 2010 the US Senate passed “Rosa’s Law” which is for the purpose of eliminating the word (s) retarded or retardation for the purposes of diagnoses, education and eligibility for persons who are disabled. The terms “mental retardation” are now “intellectual disability” and “mentally retarded individual” is now “individual with intellectual disability”. Other parts of the world like the UK frown upon the use of these words. We would not use the word “cracker” to describe a Caucasian or the word “nigger” to describe an African American, nor would we use “spik” to describe a Hispanic. Why? Because the use of all of these words are unacceptable. They are derogatory and demeaning. So why is it ok to use the word retarded?

Mental retardation or retarded are words that were used in an era long ago to describe individuals with disabilities. It replaced the words idiot, imbecile, moron, mongolism and trainable; it is because of this association that it is unacceptable to use these words. Until the middle twentieth century individuals with intellectual disabilities were hidden behind closed doors. It was shameful to have a family member that was different and the majority were institutionalized from birth so many never even knew they existed. Those that were educated were excluded from public education or were educated away from the typically developing individuals. Over time the word (s) began to be used as an insult or joke using it casually to demean someone and or to describe them as stupid or incapable of learning. And this is what is still being taught today in this generation, and it’s sad that in this day in age there exists such ignorance in the world.

It is appalling that people in the public eye think it’s ok to use the word so freely to describe something or someone they dislike or even to reflect their behaviour as stupid. There are so many people out there using the word, it’s all around us from your neighbor to children to celebrities and politicians the use of the word has become a routine. It’s very sad that we are teaching our children “hate” instead of acceptance and equality.

People with intellectual disabilities are not seen as equals in our society and are refused the acceptance as full citizens. Why? Because society has created many misconceptions of who individuals with disabilities really are; they have been subject to discrimination in most countries around the world for centuries. They have been targeted, sterilized and even executed for being who they are. By devaluing human life and agreeing to use hateful, demeaning words to express yourself you are enabling HATE and agreeing that a human being has no value.

My daughter was given the medical diagnosis of “mental retardation” when she was three months old on paper. In the almost six years of my child’s life not one doctor has ever uttered those words to me, why? Because even they know it is a discriminatory word and they are the experts. The truth is that individuals with disabilities are worth just as much as each of us, they are member’s of our families and communities and that they are amazing people.

It’s about more than just a word, it’s about respect! Respect for human life. As a society we must stand up for what is right and stand against what is wrong. Our children learn from us, it is crucial for the future of this country and for humanity that we stop teaching hate.

Spread the word to end the word!

END HATE!

Cried myself to sleep

We have been really busy in the last few weeks, including moving to a bigger house. My mother in law left to her country for a month and she is the one who helps me with Sophie. Sophie was having a hard time adjusting to her not being here and then the chaos with the move really overwhelmed her. I had to unpack the house within the first two days of moving, I even stayed up from one day to another to try to speed up the process. Sophie refused to eat for about four days and she lost a lot of weight.  But as soon as the house was unpacked and I reassured her this was “home” she started falling back into her routine and eating again. I am happy to report she has regained the weight and is back to eating every two hours.

This has been the best year Sophie has had since her birth, thanks to the combination of medication and respiratory treatments we have found a way to control the symptoms to her lung and sinus diseases. This has helped her maintain better health, she has a better appetite and she has even begun learning more and at an accelerated rate. I am so grateful to her doctors for never giving up on my girl.

Some days I don’t even think about Sophie’s lung disease but then we have a bad day, a really bad day that throws me back into that place of anger and fear.

Yesterday Sophie woke up with a nasty cough, its debilitating for her. But at the same time it is the best thing that could happen because without the cough helping her body get rid of the phlegm that phlegm would coat her lungs to prevent proper function causing lung collapse.

Her temperature was starting to rise and she was clingy and whiney which is not the norm for her. I started with breathing treatments and then her compression vest and we continuously repeated these throughout the day. She spent the day having episodes of expelling phlegm, it’s so hard to watch her go through that. She had a couple of bouts of drowsiness and turning blueish from lack of oxygen, each time it felt like my heart was going to stop. But I was able to get her breathing back to normal again.

I found myself crying a lot though out the day. When she starts having good days these bad days hurt so much harder because I am so hopeful for a miracle, that her body will become stronger.

Bedtime was the hardest. She was so exhausted but the cough would not let her rest, and as soon as I began to doze off she began to choke and by the time I jumped up and positioned her to clear her airway she had already aspirated on the phlegm. After cleaning her up and changing all the sheets all I could do was cradle her in my arms and rock her. And I cried, those heavy tears that have no end. Those tears that take your breath away, that come from the deepest depths of your soul where all the fear and pain hide. And after a long while when she finally settled down enough I laid her down next to me so I could hear her breathe and I prayed. I prayed over and over again, and I cried until I fell asleep.

Sometimes all you have to comfort yourself  is a good cry. Oh what I wouldn’t give for my little girl to be healthy. If I could take this disease from her and live with it myself I would in a heartbeat.

How do I go on?

How do I go on knowing what the future holds? In the last couple of weeks I have learned that my precious girl is fighting against the clock of life, her time is ticking away faster than we could have imagined. I’m not ready, I don’t think I could ever be ready.

I’ve written about Sophie having Cri du Chat Syndrome and with it developmental delays but that is  nothing in comparison to the sickness this syndrome has caused my little girl. Because of this syndrome Sophie was born fighting for her life, her lungs and neurological system were very immature despite that fact that she was born just three weeks before her due date. Heart and liver complications, aspirating, constipation, reflux, hearing loss, sub mucous cleft palate, microcephaly and the list goes on and on. But the worst thing that this syndrome caused was a rare lung disease called PCD, Primary Ciliary Dyskenisia (click here to read about the diagnosis).

PCD has been the primary cause of Sophie’s sickness, all of her choking, her sinus disease and all the respiratory infections that have plagued her little body. Sophie was only diagnosed with this disease last year in June 2013. Now that we know she has PCD we are treating her to help slow down the deterioration process but so much damage has already been done. In only a few short years the horrific bacteria that have invaded her little body have begun to destroy it and in the process essentially taking her life slowly.

I was told I need to prepare to let go of my child, possibly sooner rather than later. How can I do that? How is that even possible? How can I continue to live my life without being angry or bitter, without losing my faith. Honestly, I do not know. I look at my beautiful innocent child and all I see is pure light and love, I look forward to her amazing smile and energy everyday. How do I go on knowing one day she won’t be there to greet me when I wake up.

I walk through the door everyday and she runs around the living room in extreme excitement knowing that I will lift her up and fill her with hugs and kisses and her amazing laugh fills the room with delight. How do I go on knowing one day she won’t be there?

It’s the smallest of things like making sure there is always avocados, bananas and vanilla ice-cream for her to eat; making sure she has her favorites is something that runs through my mind each day. How do I go on knowing one day I won’t need to bring her home her goodies.

It’s everything about her, even in those moments when she is on sensory overload that she cries and jumps until she gets the car ride she so desperately needs to calm herself. How do I go on knowing she won’t need a ride one day?

How do I go on and try to imagine my life with out one of my children? It is a cruel reality many of us are forced to live in. But, somehow I must go on. I must learn to move forward and one day I will wake up and I won’t have a choice.

But until that day comes I will live each day to the fullest, I will love my precious little girl like no other. I will fight for her till the end of the heavens if I have too. I will go on because I cannot waste one precious moment wondering how or why?

I cannot let this break me. Life is unfair, bad things happen to good people everyday and it’s no one’s fault, it is just a part of life. All I can do is cherish each day and do my best to keep my little girl as healthy as possible. All of a sudden the things I was heavily dwelling on just a few months ago like her not being able to go to school or able to go to a birthday party seem so insignificant to me. Those things I was protecting her from will come back to get her anyway.

I never thought my life would lead me down this path, I would not wish this heartache on anyone. But I will tell you that those who have had the pleasure of meeting my little girl and being a part of her life will tell you there is something about her soul that fills you with love and peace.

For now I will pray, I will be grateful she is still by my side. I will not let anger destroy me, nothing will taint the beauty of her life. A beautiful, perfect soul. And now and forever I will be the lucky one to say that she is my daughter.