A Mother's Letter to Her Daughter After Waiting 16 Years for a Diagnosis

Unedited. Untouched. Raw Emotion. Raw Love.

Dear Aubree Bella, My Rare Girl:

Ahhh sweet 16. And what a journey.
You entered this world so very sick. Beating the odds and surviving.
Looking into your eyes as I held you for the first time in the NICU, there was something about your eyes.
My “mommy heart” knew they held the answers.
I knew YOU deserved the world.
I made it my mission to make sure this world would be accepting and kind towards you.
Doctors and therapists; surgeries and sadness. Those were your early days.
So much sadness. Your tiny body struggling with so many medical issues.
You couldn’t even be comforted. Crying hours and hours at a time.
My mind trying to distance myself from loving you completely.
I was afraid. Afraid if I loved you too much that I wouldn’t be able to fight for you.
That somehow my brain wouldn’t know what you needed if I loved you with my whole heart.
I needed to be your OT. PT. Doctor. Nurse. Pediatrician. Neurologist. Orthopedist. Cardiologist and Vision specialist.
How could I also be your Mommy? 

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It wasn’t until a genetics appointment early on; I realized I was also your mommy. When I heard the words globally developmentally delayed with a “possible” syndrome because you had dysmorphic facial features, my heart broke like only a mom’s heart could. As the Geneticist measured and scrutinized every part of you, I knew my sweet baby girl needed me.

You needed your mommy.
I am sorry for distancing myself emotionally.
That day I made you a promise to search the ends of this world for that “possible” syndrome.
Through the years, I asked over and over again about the newest genetic testing, wanting answers.
Most times I was met with resistance by the medical professionals.
After all your chromosomes were “normal” and other genetic testing turned up nothing.
One year turned into two.
Then three and five and ten and soon sixteen. 
Ahhh Sweet 16. 

I read anything I could about syndromes.
I kept up to date about new genetic testing being developed; learning of new and rare genetic syndromes being revealed with exome sequencing.
It gave me hope.
Could this be the answer for us?
Could this new genetic testing explain why you have had so many medical issues?
With guarded hope I reached out again to the doctors.
Asking the same questions I had asked for so many years.
What if this can give us a name, a direction to go or even answers?
The doctors asked again why it was so important to have a label.
What would it change? You weren’t a baby anymore. What would a diagnosis do now?
I didn’t know the answer to those questions.
I did know having a child with special needs changed me.
It made me an advocate and an activist.
I felt this time we would get a diagnosis.
I was hopeful.

blog imageAubree, you have taught me to always have joy and hope in my heart.
You live each day in the moment.
Your laugh is infectious.
Your dark brown eyes telling a whole story without one word being spoken.

I also had fear. Fear that this new genetic testing could reveal nothing.
And then what? I knew what. I knew I would continue to search.
Continue to love you and continue being your mom. You deserve so much. 
Waiting those months to get your genetic report back was difficult.

Then, the day finally came.
Waiting for the Geneticist to walk into the room felt like an eternity.
I think you felt my anxiety.
You were so uneasy and kept asking to go home.
Believe me it sounded like a good option.
The doctor wasted no time when he walked in.
He said it right away. 
You have a rare syndrome called Helsmoortel-van der Aa syndrome (ADNP).

You were one of only 120 cases known and diagnosed in the entire world.
I made the doctor repeat that statistic because it seemed impossible.
He asked to take a couple of photos of you because you were the first person he had ever seen with this syndrome.
The doctor handed me a few papers about the syndrome, saying there wasn’t much written about it yet.
The syndrome was just discovered in 2014. 
I walked out of that appointment with the answer I had hoped to hear for almost 16 years. 

When I got home and started searching the internet for Helsmoortel-van der Aa syndrome, I couldn’t believe it.
Seeing photos of other children with the syndrome made me cry.
Those children had the same eyes as you.
Those eyes. Your eyes.
They were the answer all along.

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For almost 16 years of medical mystery, being the 1%, never knowing exactly how to answer the question “what is your daughter’s diagnosis”? I finally could say it.
My sweet girl has Helsmoortel-van der Aa syndrome.

Then you turned 16. Sweet 16, just 4 months after your diagnosis.
My heart felt a little stronger knowing you, my rare girl, had no clue of your 16-year journey to a diagnosis.
You didn’t have to live each day wondering why or what if.
I am grateful daily to be your mommy.
All I have to do is look into your eyes and know that you love me completely.
I am happy to say I love you with my entire heart.
And to those doctors who kept asking what a diagnosis would change?
Well, everything.

Knowledge is powerful.
Belonging is innate to being human.
Aubree, finding your ADNP tribe has mended a gap.
A hole in my heart.
Our journey to a diagnosis was long and emotional.
But one with hope…because of you. 

Love always, 
Your Mommy

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