Letter from the Founder

 

Dear Friends,

My daughter beams with light and gives hugs to everyone around her, from a stranger to her brother, so long as she senses positivity. Even all of her specialists (over a dozen!) receive a huge embrace with a cheek to-cheek-smile from her. She is smart, and she captivates those around her.

She was born with what appeared to be healthy, except for a rare genetic mutation in the 8th chromosome. Some of her genes are missing, some are duplicated, and some are flipped around.  And nobody has a clue as to how this happened.

When we first received the Chromosome 8p diagnosis, we were told, “Good luck, she’s not going to Harvard. You should seek parent counseling.” As you can imagine, there were endless tears that emptied the tissue box on the car ride home. And after.  The 1st brochure we received from a genetics counselor came with the caveat that it was 30 years old.  This diagnosis was so rare that they couldn’t tell me what her symptoms would be, all they could do was offer a range. The range was so broad, it spanned from minor global delays to wheelchair bound and questionable health. I was utterly scared and confused. All I kept thinking was, “That’s all you can tell me?”

That’s when I learned there was no central database for Chromosome 8p disorders or genetic conditions in this country, never mind the world. Months went by after the diagnosis with no info. Then I started scouring the internet. I found a couple of organizations and some basic databases. I started contacting any families I could find that were impacted by Chromosome 8.

Along the way, we decided to see our daughter for who she is and not what a brochure told us she could be. I have learned to forget about milestones and value the inch stones at her own pace, not mine.

When I hear my child’s voice with a faint “Hhhhi,” a dozen things go through my mind: my heart melts, I wonder how hard that must have been, I imagine neurons in her brain trying to send a message to the facial muscles, misfiring, and eventually her tongue moving and her breath producing that “hhhhiiii.”  I am aware that it took 2 minutes for that motor plan, I am upset that it took that long, I am proud of her, I have tears of happiness and sadness. I can’t imagine how frustrating it must be when she has so many ideas to express and cannot, she wants to run alongside friends in the playground and cannot, and she wants to shout that she’s hungry and exhausted after a full day…and cannot.

But she can say hi, even if it took around 5 years and approximately 8,000 hours of all kinds of therapies. Could our journey to “hhhii” help other families? Could all of our collective experiences help each other if we only had a central repository of knowledge? 

I am motivated to make sure my daughter can do everything she wants to do. That means coming together to find treatment. To help prevent others from being born with a genetic condition like this. To provide resources and a hand to hold for new families so that nobody needs to start from scratch and navigate the unknown like we did. To find a way to help the 8p heroes continue persevering with their beautiful smiles.

With Project 8p, I want to represent my daughter’s voice and its truth. I am her spokesperson, and one day, she will be the spokesperson for this foundation. I carefully listen to her communication cues, often it’s a wide eyed stare that sees right through my soul. I have full conviction that she is my teacher and has given me a purpose that is beyond our little family.  As I say this out loud to her, she claps and reaches her arms out to embrace me.

So you see, I almost need her more than she will ever need me.

I hope when you read this, you can relate somehow.  She is my inspiration to find a better, smarter way to respectfully fulfill her dreams.

And there are infinite possibilities.  

 

With gratitude,

Bina Maniar Shah

Mother, Founder of Project 8p