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!

32 Pounds!

32 Pounds is what Sophie weighed today at her checkup. I was so excited! Dr. Nieves gave me a huge high-five. Keeping weight on this child has been such a challenge, seeing her maintain her weight and steadily increase is such a relief and a blessing. She is 3% for weight and 10% for height on a typical child growth chart, that is awesome! She is on the charts and has remained there, huge win for us. Stronger Sophie = Stronger Body = Better chance of fighting off bacteria. 

I am a little behind on doctors appointments, life has been so busy and I was just putting them all off, honestly; I just needed a break from it all. Sophie is doing really well, we are keeping her stable with all her meds and with isolation. As hard as it is keeping her home all the time we are adjusting, knowing it is literally keeping her alive is enough that we just moved on and just put that whole reality out of mind.

Dr. Nieves was there for my daughter’s sweet sixteen several weeks ago and spent the evening observing Sophie interact with everyone and is astounded at her developmental progress despite all the challenges Sophie has had to overcome. It’s so awesome to have the support of such a wonderful human being, and we are so lucky to have her as the head of Sophie’s medical team.

The only issue we came across is that now that Sophie is growing and getting pretty tall at almost 42″ her scoliosis is becoming visible, which means we will have to watch it closely. It’s hard to swallow that my five-year old already has noticeable scoliosis. Heart breaking, DAMN Cri du Chat Syndrome! But we will take it one day at a time and do whatever is necessary to help her and give her the best treatment possible.

At the end of the day the good news out weighed the bad and I will take it as it is. Nothing will break us or our positive attitude for life.

CLICK HERE For a short video of Sophie in the waiting room today, she is doing phenomenal!

 

 

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.

 

 

Follow up with the Pediatrician

Today was Sophie’s follow-up with her awesome Pediatrician Dr. Nieves whom we absolutely LOVE! It had been three months, yes 3 MONTHS since I had to take her! That is huge for us, while she has been sick thanks to my stock of medications and equipment no doctor visit necessary.

I have been attempting to take Sophie out without her wheel chair so that she can learn to behave without it, then again she is only four I may be asking for way too much. She seemed fine just a little excited when we arrived, she’s back to twirling her strings so that had her preoccupied for a bit. When we went back to the waiting room the well waiting area was full so naturally I took her to where there was no one and not so loud but you could still hear the loud banging and rattling of the other children playing. It was REALLY loud. And then BOOM. It all became too much for her, she started yelling and pinching and wanting to bit. She begins to laugh nervously and if I don’t calm her it will end in tears and frustration. Thank goodness we were called back to the room before I had to walk out. She immediately calmed once it was quiet but it was still very bright but she handled it well.

Sophie weighs 29lbs, she is just under the 5th percentile for weight on a typical growth chart which for CdC is good because she IS on the chart, finally. Dr. Nieves was happy with her condition, despite being full of phlegm her airways sounded good. We went over diet, meds, education etc as we do every visit. Have I told you I love this doctor, she is amazing! Loves my girl and is always a step ahead thinking of how far my girl will go.

Dr. Nieves was not pleased with the fact that Sophie only get 2 hours of instruction and an hour of speech a week from the school system but I’m over it. We talked about pushing for more therapy but honestly I’m over it for right now. I just don’t have the energy to deal with people coming and going and searching for the right one. I’m not going to fight for such little time. Sophie learns from us everyday, she interacts with all of us at home and is learning everyday. The teacher she does have is awesome with her and Sophie knows it’s time to work when she arrives, they have a great connection. Sophie also has a great OT who works with her an hour a week and an ST. I’m happy with what we have, it’s better than nothing.

Dr. Nieves is very happy with Sophie’s progress both with her health and her cognitive gains. She has by far surpassed the expectations of all the medical professionals that are treating or have treated her as well as mine. The only suggestion was to add some nutritional packets to her almond milk for added calories so we keep her weight up. Oh and of course to keep her in a bubble but that’s nothing new.

Give her the best but she cannot be a part of the outside world. That’s not hard……(can you sense my sarcasm?). I know she only wants to make sure my girl lives and has the best quality of life and I love her for that!

Trip to UNC

This past week we made a trip to UNC-Chapel Hill in North Carolina to meet with the Pulmonologist who diagnosed Sophie with PCD, Primary Ciliary Dyskenisia.  We agreed to take part in a current study which includes PCD so we made a trip up there for testing and for the doctor to examine Sophie.

PCD is usually a disease that is passed down genetically but there are new links between this disease and certain genetic syndromes, Cri du Chat Syndrome is one of those genetic syndromes. I was initially told that Sophie had PCD but not from her 5p- deletion and it was also ruled out that the link was not genetic. That left alot of questions. So when I was contacted by UNC about bringing Sophie back for more testing I was confused thinking they wanted to  repeat the testing for PCD because they suspected a possible misdiagnosis. I was wrong.

In other patients with PCD the link between the chromosome 5 deletion, aka Cri du Chat Syndrome and PCD were apparent. In Sophie’s case it is proving harder to map out but the doctor is certain Sophie’s PCD was caused by her 5p- deletion. Sophie is just making the doctors work harder to map out exactly where and what area is responsible for causing PCD and what type of PCD defect she has, she is making them (the doctors, researchers) think out of the box as she does everyone else.

There is no doubt Sophie has PCD, this was verified by the doctor. There was also a nitrous oxide test that was performed wich came back consistent with PCD as they expected. Once I discussed it all with the doctor I was relieved, not because my daughter has this disease but because if she did not then we would be back to square one with no answers and no direction for treatment. Despite the devastating diagnosis of PCD I am truly grateful that I know what we are dealing with.

The doctor was pleased with her state of health considering everything she has to deal with. The Dr. who performed her lung biopsy last year and who was also involved in ruling out PCD said Sophie looked like a different child. That was huge, she said Sophie looked so healthy and lively. Compared to her deteriorated state last year when she had her sinus surgery she truly is a different child.

Thanks to this PCD diagnosis Sophie’s doctors were able to come up with a treatment plan that seems to be working. Sophie is now on Rocephin via her nasal irrigator everyday, she receives two or more treatments with her compression vest everyday; along with 2-6 breathing treatments and her other meds and vitamins.

We have to basically keep Sophie in a bubble because every little bit of exposure is critical to her health, this one day trip to NC resulted in a respiratory infection that she is till fighting off.

Sophie was born for more than just being my daughter, her presence in this world has been felt. She has changed lives, starting with mine. Sophie has opened the door to help Science in many ways and Dr. Leigh the Pulmonoligst who found her PCD said that she would be a super star and be the key to opening the door to understanding and maybe even possible treatment options for others in the future.

My Sophie. She is my shining star! She is my inspiration. My miracle baby!

(Sophie at the Hotel, she loves elevators. She is so independent now when it comes to walking) When you look at her, and interact with her you know with no doubt she is perfected by the hand of God. Beautiful innocence!

 

Everyday is a lesson

With each passing day there are new lessons that life can teach us. When you make a commitment and choose to change your mind, heart and soul to let go of hatred and negativity all you need is the will and you will succeed.

I am not perfect, nor do I pretend to be but I like the person I am today. When I look back to all my yesterdays I understand why so many mistakes were made. Accepting the mistakes I’ve made, forgiving myself and others have led me on a path of happiness.

I am happy, the happiest I have been in a very long time. My children are happy and calm, and our home is peaceful. I cannot even remember the last time I cried, that is a blessing. And I accomplished this serenity with a tremendous amount of faith and support from my wonderful husband.

Even though I am in a good place emotionally and spiritually is does not mean my life is perfect, I will have days that leave me drained and spent. Everyday circumstances can effect my moods and my energy level can also have a huge affect on me.

But, with each day and every encounter I have a choice. I can choose to be strong and forgiving or be angry and bitter. I am no longer angry and bitter. Life is too precious to waste one moment of it.

Take each day my friends and find the lessons life is giving you so that tomorrow will always be better than today.

If you are depressed you are living in the past. If you are anxious you are living in the future. If you are at peace you are living in the present. ~ Buddhist Wisdom ~