Our daughter, Jenna, was born four weeks early and immediately rushed into surgery. 

She had been diagnosed in utero with an intestinal problem common among children with Down syndrome (also known as trisomy 21), but possible in other kids as well. Doctors were reassured that she didn’t have any of the other telltale signs.

When they laid her in my arms, I knew she did indeed have Down syndrome. I got to hold her for only 30 seconds before they whisked her off to the surgical team waiting for her at CHOP. It was a horrible, difficult time, but the surgery was successful.

Changing expectations

Having a disability is not what you want for your child — you want the world to be perfect for her. We had to grieve the loss of those expectations but also come to love the wonderful child that we got.

The list of possible medical problems for a child with trisomy 21 is shockingly long. People think of the cognitive delays and a certain physical clumsiness or awkwardness, but most don’t have a clue how complicated the condition’s medical problems are.

Thankfully, Jenna doesn’t have heart problems, which many children with Down syndrome do, but over the years she has had many other issues: gastrointestinal problems, seizures, dental issues, delayed walking and hearing loss.

At 10 weeks old, Jenna had a virus called RSV and had to be on a respirator for 14 days. She went into heart failure twice.

Link between Down syndrome and Alzheimer's

I learned one particularly scary fact: Most, if not all, children with Down syndrome develop Alzheimer’s disease by their 50s — and few researchers were studying the problem in a serious way.

Grace Wadell, another mother of a child with Down syndrome, and I approached David Lynch, MD, PhD, who studies neurodegenerative diseases at CHOP. We essentially said to him, “If we help bring you the funding, would you look into this?”

He accepted. That was the beginning of the Trisomy 21 Program at CHOP.

Trisomy 21 Program: In the beginning

To raise funds, Grace and I started the CHOP Buddy Walk® & Family Fun Day at Villanova University, which has grown to become a 4,000-participant carnival-like celebration with crafts, moon bounces, face painting, performers and food.

Since 2003, the Buddy Walk has raised more than $2.1 million for the Trisomy 21 Program at CHOP.

Our first check hired Mary Pipan, MD, a developmental pediatrician, and Kim Schadt, MSN, CRNP, CCRP, the program coordinator and a nurse practitioner. With Dr. Lynch, they have put together the best program of its kind in the country.

First patient of the program

In 2003, Jenna was the first patient at the Trisomy 21 Clinic.

As part of her evaluation, Dr. Pipan asked me my concerns. Jenna had been learning words, but then losing them. We had already been to numerous specialists who said, “That’s just Down syndrome.”

She wasn’t jumping. She wasn’t potty trained. She was waking up in the middle of the night crying. We couldn’t find an effective way to discipline her.

Dr. Pipan wrote it all down, and then after a two-hour evaluation of Jenna, she astonished me with her insights:

• Jenna had a disorder called speech apraxia. Once a therapist addressed it in the right way, she learned to talk over time.
• Dr. Pipan handed me books on how to potty train children with special needs and it worked.
• She diagnosed Jenna with night terrors, which we could then treat.
• She explained that Jenna didn’t understand negatives in a sentence, so “Don’t eat that” sounded like “Eat that.” We found new ways to speak to her.
• A physical therapist helped Jenna learn to jump.

I walked out of that appointment sobbing. I couldn’t have imagined Dr. Pipan would be that much help, and I can’t imagine where Jenna would be today without her.

She's come a long way

Jenna is now a funny, personable 12-year-old middle schooler. She takes dance class, plays field hockey, cheerleads, swims at camp, keeps up with her friends and plays a mean game of tag. While she is behind grade level in reading and math, she goes to school with the general population and she has friends of all ability levels.

She’s getting the social education she’ll need to go to college, live on her own and get a job — and she will do all of those things.

Jenna is lucky to have a dream team of specialists in a dozen different divisions at CHOP, and the Trisomy 21 Program makes sure all of that care is coordinated.

I am so thankful for the thousands of people every year who participate in the Buddy Walk and donate to the Trisomy 21 Program, which literally would not exist without them.

When we band together, we can make such a difference.
 

Written by Lizanne Magarity Pando
Originally posted: October 2012