Pitt-Hopkins Syndrome

Good Grief

I’m sorry that I grieve for you while you sit in front of me
I’m sorry there’s another you, that only I can see
She runs and plays and talks for days
She drives her sister crazy
She hates goodbyes and screams and cries
when sister calls her lazy

I’m sorry that I mourn for you when I put you to bed at night
I’m sorry there’s another you, who I watch sleep in evening’s light
She sweetly dreams of trees and streams
she’ll run through when she wakes
She soaks up the day with the games she will play
And every grand risk she takes

I’m sorry that I weep for you while I hold you against my chest
I’m sorry there’s another you, who would probably protest
She is getting too large to want mommy in charge
She insists on making her own choices
She always complains when mama takes the reins
with her loudest oh loudest of voices

I’m sorry my heart breaks for you, oh my sweetest girl, I know.
I know you are my only you, I’ve watched you learn and grow
You play best you can, and talk with your hands,
You bring your sister annoyance and joy.
You soak up the day in your very own way
You smile at every cute boy.
Your list of “can’ts” could fill all of France
Your “won’ts” may be even longer
Yet each day you fight with all of your might
You make all who love you feel stronger

And so maybe my grief is a strange kind of relief
A chance to glimpse the girl who might have been you
When daydreams fade I feel, I can see you for real
Not an illusion but my daughter, imperfect and true.

Jordyn-Ann Was born in October of 2014, she struggled from day 1. It was once thought she had #AngelmanSyndrome, #RettSyndrome, or Pitt Hopkins syndrome. She had severe reflux, apnea, jaundice, she even had to be hospitalized at a week old in the PICU. She struggled with regulating her own body temperature, especially during illnesses which would cause her fever to spike to 105. Her mysterious and odd limb movements started at 6-7 months old.

She has seizures, global developmental delays, absent speech, balance and coordination issues as well as other issues.

I got a call recently from Duke University at the #Undiagnosed Diseases Network that said my daughter has 2 ultra rare De novo gene changes that has not been previously recorded or found in another human, both combined could explain all my daughter’s symptoms.

CHD5 has a significant impact on brain development and function, they tested this on mouse models. It would explain all of her neurological deficits and severe Autism.

DOCK10 which helps with immune system function. It could explain her high fevers, allergies, and immune system issues.

We want to find other families that have either or both gene changes. We also want more research on these ultra rare gene findings.

I will never give up and I will keep fighting from my little Warrior princess.

It means the world to me that she is no longer undiagnosed but ultra-rare instead. We went from searching for a diagnosis to now searching for other families with these ultra-rare Gene changes.

Now our real mission begins.