Tag Archives: sophie our gift

How far she has come.

With each passing day I am more amazed at the progress Sophie is making, she is a fighter. Her will to learn and live are truly inspiring, it makes everything else seem so insignificant.

We were told Sophie would not survive past the age of 2, she will be 5 next month.

We were told if she lived she would be in a vegetative state and would never learn. Today with a heart full of love, hope and gratitude I will tell you how far she has come.

Despite ALL of her medical issues she is thriving and happy. She smiles everyday, her laughter is contagious and her beautiful innocence is unlike anything you could have imagined to have the opportunity to experience. There is this immense peace that surrounds her.

Sophie CAN walk! She can run and has begun to jump. She is so active it is truly an amazing sight.

Sophie CAN eat, she LOVES food. She may not yet have the ability to chew solid foods but this does not stop her from enjoying what she loves. From oatmeal to rice and beans to ice cream she enjoys it all. I used to think I would never see the day where Sophie would no longer be a slave to Pediasure and the blender, I was so wrong.

Sophie CAN love. She loves all those who surround her, she can give kisses, hugs and loves to cuddle. And she knows when someone is sad, especially me. There is no hiding your emotions from her, she is highly intuitive and extremely sensitive to the energies around her.

Sophie CAN make choices. If you give her options of different foods or movies she will chose what she wants without direction from someone else.

Sophie CAN communicate. It may not be with words but she gets her needs across and has no problem expressing herself. Just because she cannot speak does not mean she does not have words, her words come from signs or expressions and utilmately all the words we, her family have for her.

Sophie CAN participate. Sophie loves to be around people; while her health prevents her from truly experiencing the world when she is given the opportunity she gives it her all. And even sensory processing disorder won’t stop her.

Sophie Comprehends. The doctors expected her development to not flourish but that did not stop her, Sophie understands. She understands more than what I would have ever imagined she would have the ability to comprehend.

If you tell her let’s go bye bye, she will try to undress herself because she knows she has to change her pajamas before she leaves the house.  And before you tell her that its bath time be certain you are ready because she will not wait, she will be in the bathtub before you know what hit you. And be forewarned at dinner time you cannot pass her up, when she sees the kids sit down at the table she runs to her chair and makes sure we know she is ready to eat. She knows what goes on in her surroundings and chooses to react when she is ready.

As I look back at the last five years I feel so very blessed but I also feel sad that for a short time I never thought she would ever come this far.

Sophie’s siblings have always loved and accepted her just as she is, she is just one of them. Their love has been essential to her determination and strength, they complete her just as she completes them. We cannot dwell on the reality that Sophie does not develop like most children her age because then we would miss out of who SHE is. I like to say Sophie is hardwired differently, we can’t all be the same after all.

Sophie has come a long way in these last almost five years of life. She is what love is made of. We are so proud of her, more than words can describe. And while she may not be like everyone else, she is uniquely perfect just the way she is.  The world would be a boring place if we were all the same!

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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!

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Everyday is a lesson

Be Master9

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 ~


If only


If only; life would have been different.

If only; you would have been born complete.

If only; you would be full of health.

If only; I could hear you speak.

If only; the world wasn’t so overwhelming for you.

If only; you could eat all kinds of foods.

If only; you had  healthy lungs.

If only; you could experience the world with freedom.

If only; I could watch you play with children your age.

If only; I knew what you were thinking.

If only; I knew if you loved me as much as I love you.

If only; I knew how you really felt about the world.

If only; I wouldn’t think about how it could have been.

If only…….

Suddenly, the what if’s…


You are perfect in every way, you were created so angelic in the image of perfection and yet although my heart knows it, sometimes it’s not enough.

Suddenly, I drive by and see the crowd of children playing and there it is. The image of what if, the child who looks almost exactly like you; you seem to be around the same age, your hair color is almost identical and then suddenly it feels as if I cannot breathe.

The tears begin to flow, this immense feeling of sadness overwhelms the better part of me and all that runs through my heart and mind is “what if?”.

What if life had been different? What if you were not faced with all the challenges life has dealt you? What if you could talk and dance and eat like a every other child your age.

What would you say? What would be your favorite food? What would be your favorite dance style or favorite toy.

What if it had all been different? What if life would not have been so cruel?

And then I see you and the peace slowly returns as my heart fills with love each time I am in your presence and I know….There will always be “what if’s” and it doesn’t mean I don’t love you it just means, I am only human.




a journey,

an adventure,

a learning experience.

Life can be full of…








A transformation of the soul.

A perfection of one’s self.

The greatest journey imaginable.

The most difficult road to travel.

Life is what we make it.

Positive thoughts bring positive outcomes.

The belief and love of ones self is essential to a happy life.