THE NEW DIAGNOSIS
5 weeks old
THE phone call
Dr. Flores’ words
Chris took call
Results were positive
Prader-Willi syndrome
A lifelong disability
Life-threatening illness
Scoop up Ryan
Hold my baby
Cry many cries
Chris and me
Bonded so closely
A new journey
A new family
Luke, Luke, Luke
How to cope
What is next?
PWCF Director calls
A mentor mom
A support group
Appointment with expert
Appointment with geneticist
Appointment with urologist
Specialists, specialists, specialists
Growth Hormone Therapy
Shots every night
New OT Sara
New PT Rosemary
Therapists every day
Lots of exercises
Get stronger Ryan
Wake up mouth
Wake up body
Please wake up
I will never forget the night our pediatrician called to tell us THE NEWS. We had been home with Ryan for a week or so. The phone rang and the caller ID told us it was the doctor. The answer. The future.
Chris told me when he hung up with sad, soulful eyes, “It’s a YES.”
I ran to our bedroom where Ryan was sleeping peacefully on our bed, and quickly scooped him up in my arms. I said,” I will take care of you, I will take care of you…” Over and over I said it as the tears fell onto his baby blue sleeper.
Chris immediately called and left a message with the PWSA (USA), the national organization based in Florida for Prader-Willi syndrome. We received a phone call backthe very next day from Lisa, my new “mentor mom,” from the Prader-Willi California Foundation (PWCF).
Her message to us was, “Congratulations on the birth of your new son, Ryan.” She did not say, “Oh, I’m so sorry about your son and please call me back.” There was warmth and help and support waiting in the wings for us. We soon found out that Lisa lived 10 minutes away from our home. This was one of many signs that God was taking of us in the midst of this unthinkable crisis.
When I was finally brave enough and strong enough to read about PWS, this is what I read:
- rare genetic disorder, a spectrum disorder
- occurs in 1 to 12,00 to 15,000
- chromosome 15 affected
- lifelong, life-threatening illness
- symptoms include hyperphagia/excessive eating (WHAT?)
- behavior issues
- social issues
- medical issues
- parents and caregivers experience some of the highest levels of stress
The specialist appointments began. Endocrinologist. Geneticist. Urologist. Pulmonologist. A new OT started coming to our house, another ANGEL, named Sara. A new PT (physical therapist) started coming when Ryan was two months old.
Ryan began receiving growth hormone (GH) nightly when he was 10 weeks of age. We had to give him a shot EVERY NIGHT (and for the rest of his life) to help him gain lean muscle mass, become taller, and help increase his body’s growth hormone levels. (Can you imagine how thick-skinned again we had to become to deliver shots to Ryan’s little body…every night?!)
And so our new and unique journey began…
We were “special needs parents.” We had a son with “special needs.” An entire new world just opened up for us. We were about to meet some amazing families in the PWS world and the special needs world at large.
We humbly told all our family and friends about Ryan’s diagnosis. From the start, we embraced our new life with Ryan, adopted a very open attitude, and shared our story freely. We told ourselves, “We are not going to shy away, pretend it does not exist, or alienate others from helping us/supporting us/loving on us, by keeping it a secret to ourselves.”
We accepted quickly that we would need help, lots of help, throughout our journey with Ryan and Prader-Willi syndrome. We were bonded together, we had our faith and family, we could confidently take baby step after baby step. And we did. We still do.
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