Youngster faces disease with smile

By Lisa Williams Ackley

Staff Writer

A TREASURE CHEST SURPRISE — awaited 12-year-old Gabriell Snyder, of Fryeburg, when she was presented her wish to go to the Atlantis Resort in the Bahamas by the Make-A-Wish Foundation of Maine® Dec. 17, 2011, during the Portland Harbor Parade of Lights.

FRYEBURG — Gabriell Snyder is an active, energetic 12-year-old middle school student who is involved in so many activities — soccer, softball, dance, gymnastics, drama, swimming and skiing — it could make one’s head spin!

Gabriell is a compassionate person who loves her friends and enjoys helping others, as she did when upper school students assisted younger kids at the New Suncook School’s Santa’s Workshop just last month. Her dream is to one day help other kids who have the same life-threatening illness she has by opening up bakeries and restaurants that serve foods low in protein.

So, it is hard to fathom that Gabriell could be so involved with others’ needs, when she has been dealing with this life-threatening disease since the day she was born.

Gabriell has propionic acidemia, a rare disorder that is inherited from both parents. “Individuals with PA cannot break down parts of protein and some types of fat due to a non-functioning enzyme called PCC,” according to the Propionic Acidemia Foundation. “This inability causes build-up of dangerous acids and toxins, which can cause damage to the person’s organs. PA can also damage the brain, heart and liver, cause seizures, and delays to normal development like walking and talking. During times of illness, the individual with PA may need to be hospitalized to prevent the breakdown of proteins within his/her body.”

Make-A-Wish® Comes through for Gabriell!

Gabriell’s special wish is to go to the Paradise Island mega-resort of Atlantis in the Bahamas that has over 3,700 guestrooms and suites. Atlantis also has the one thing Gabriell is looking forward to the most.

“Atlantis is a big, big resort that has the biggest water parks in the world,” Gabriell explained. “The Number One thing I want to do is swim the dolphins and the stingrays! I’m so excited! There are a lot of activities for everyone to do!”

Gabriell will be traveling on her trip with her parents, Stacey and Matt, and her younger sister, six-year-old Kaylee.

ALWAYS HELPING OTHERS — Here, Gabriell Snyder, 12, of Fryeburg, helped Virgil Neddenriep, of Stow, make a Christmas present for his dad, Rip Neddenriep, at the New Suncook School’s Santa’s Workshop, last month. (Ackley Photo)

Yes, she’s very excited, because there’s a Kids’ Club where parents aren’t allowed,” said Stacey.

Beaming with anticipation, Gabriell said, “I love to swim! It’s going to be so warm there — and here it’s always so cold, and this will be a change from that! The farthest I’ve ever been from Maine is Florida.”

“She’s always wanted to go to the Bahamas, and she’s always wanted to swim with the dolphins,” her mother said.

Gabriell has managed to live with her disease and fare pretty well, considering the circumstances. However, that is not the case with other children born with this life-threatening illness.

“Kids with PA — when they reach their teenage years — can have congestive heart failure,” Stacey explained.

Gabriell’s face lights up when she talks about her friends.

She said, “My friends mean the world to me — I love my friends! At school, I’ve always been the youngest one and the shortest one. My friends — they always keep me happy and they always keep me focused! They are always there — if I’m upset, they’re always there to help me move on, and they tell me there are better things to focus on and move on.”

It was a stunner to Gabriell when she was asked to ride on the harbor tugboat during the Portland Harbor Parade of Lights on Dec. 17, 2011, by Captain Brian Fournier and his wife, Julie. It was during this trip that the Make-A-Wish Foundation of Maine® representatives surprised Gabriell by granting her wish to go to Atlantis in the Bahamas. And, they did it in a fun way — Gabriell was presented with a treasure chest and when she opened it up it said, “Go to Atlantis!”

Asked whether she could decide between laughing with happiness or crying with excitement, Gabriell replied, “I was more in shock! It was freezing cold — my hands and my nose were frozen! But the coolest thing — the captain of the boat — his daughter, Alicia, was in Make-A-Wish herself!”

“They made Gabriell an honorary captain,” said Stacey. She even got to help steer the boat!

“We danced, and spun the boat around, too,” Gabriell said.

Stacey added, “There were a lot of fireworks, after the parade, and we were right there!”

Gabriell said it best, stating, “It was just a really, really fun night!”

Now, Gabriell dreams about the fun she will have in Atlantis in March.

She said with excitement, “I can not wait for the shopping! And there is snuba diving for kids, too!”

Stacey explained that snuba diving is a combination of scuba diving and snorkeling that utilizes an underwater electronic scooter.

Yet, even as she looks forward to her upcoming trip to Atlantis, Gabriell speaks with great affection about her friends.

“I want to get gifts at Atlantis for my friends,” she said. “I’ll really miss my friends!”

Stacey said the Make-A-Wish Foundation of Maine® has provided Gabriell with everything she and her family will need while at Atlantis — airfare, hotel, meals, spending money and underwater cameras.

“We will get picked up by a limo and they will take us directly to the airport,” Stacey said.

A lifesaving diagnosis

The Commonwealth of Massachusetts, where Gabriell was born, made comprehensive newborn screening for Propionic Acidemia mandatory in February 1999. Gabriell came into this world in October, 1999.

“I was the first case of it in Massachusetts,” Gabrielle stated.

“She was very fortunate she was diagnosed when she was,” said Stacey.

Wise beyond her years, Gabriell explained, “For me, it’s not good if acid builds up in my body and blood. It can cause brain damage to death — you can become very, very ill and die.”

“Gabriell has had 25 to 30 hospital stays, in 12 years,” said Stacey.

When an initial intensive treatment plan made Gabriell sick, according to Stacey, she sought out a second opinion.

“Dr. Mark Korson is a geneticist in Massachusetts and he thought that, even though Gabriell lacks the enzyme activity, she didn’t need such an intensive form of treatment. She was thriving — she was growing — she was small, but she was meeting all the markers.” Now, Gabriell sees Dr. Wendy Smith.

“Every September, I go to PKU camp,” Gabriell said. PKU, or Phenylketonuria, is a rare inherited genetic disease related to PA that can cause high levels of phenylalanine due to the body’s inability to break down this amino acid.

“As I grow up, the less protein I can digest,” said Gabriell.

“She can have no more than 15 grams of protein in 24 hours, otherwise she gets very sick,” Stacey explained. “She needs enough calories and carbohydrates to keep her body stable but not take too much that it would make her sick.”

“It’s a challenge, day to day,” Stacey said further. “She does check her ketones — but, she feels it, too,” if she is starting to become ill.

“I can taste it in my mouth and also my throat,” said Gabriell. “It feels like a big pill that you dry swallowed. I get dizzy and light headed and my eyes get really glassy and I get dark circles and bags under my eyes.”

“We go to the hospital, if it’s (the ketone level) higher than negative,” said Stacey.

“Erica Roy takes very, very good care of me,” stated Gabriell. “At the hospital, they take me in a room and give me Carnitine (intravenously).”

Carnitine is a quaternary ammonium compound that is required for the transport of fatty acids from the cytosol into the mitochondria during the breakdown of lipids (fats) for the generation of metabolic energy.

PA is a difficult enough disease, yet what complicates matters further is illness such as colds, flu, gastrointestinal bugs, viruses, stress, dehydration, lack of calories, and constipation that can cause metabolic instability. Some children with PA are more prone to elevated ammonia levels, pancreatitis and cardiomyopathy, according to the Propionic Acidemia Foundation website.

“She has doctors, nutritionists, social workers — a whole team who follows her,” said Stacey.

“Gabbie doesn’t go to Clinic Day (with other PA patients),” her mother said. “She’s never met a child and has never seen a child with PA. You don’t want your child to see that.”

“Honestly, I’d rather not see what might happen to me,” said Gabriell. “I don’t want to focus on what will happen to me later on.” At this point, Gabriell and her mom threw their arms around one another and sobbed. Once they composed themselves, Stacey said, “You just never know,” whether she could get a cold, or other illness. Yet, said Stacey, “We try to let her do as much as she can or wants to do. We try to do as much as we can, as a family.”

However, when the family goes to a take out restaurant, Stacey said, “All Gabbie can have is two chicken nuggets and a small order of French fries, and she’s 12 years old. It’s sad — you want to treat her — but the limit is 6 grams of protein.”

“I’m rarely full,” said Gabriell. “I have to have low protein food. For breakfast, I usually have a waffle or hash brown for 2 grams of protein. At school, I eat half a sandwich with one slice of meat.”

“She can have hard salami, because it only has 1.2 grams of protein,” Stacey said. “She gets one slice of bread with 2 grams of protein, 27 Munchies for 1 gram of protein and that will be it.”

Gabriell rattled off the things she can’t eat that most of us take for granted in our everyday diets, saying, “No milk, no cream, no dairy, no fish, no meats and no cheese — but I can have tons of vegetables and fruits.”

“We’ve gone many places where I had to educate the doctors about Gabbie’s PA,” said Stacey.

Both Stacey and Gabriell recalled when Gabriell was a preschooler and her uncle took her to Roger Williams Park and Zoo in Rhode Island. He unwittingly gave Gabriell a whole hot dog and she had to be admitted to the hospital for a three-day stay.

Last year, Gabriell knew a boy who was skiing with her and some other kids that didn’t have any food to eat, so she gave him what food she had with her — going without any nourishment for herself for eight hours.

When Gabriell arrived home, Stacey said she knew something was wrong.

“I could smell the ammonia,” said Stacey. “She could have slipped into a coma.”

“I thought I was doing the right thing,” Gabriell explained.

“That’s the day we told her if she knows of a child who is going without, she is to come and tell us,” said Stacey.

“I thought it was the right thing to do, and then I was in the hospital,” Gabriell said.

Beating the odds

Stacey said, “The doctors bang their heads asking themselves, ‘Why is this child so tolerable? Why is she defying the odds?’ Kids that have PA are (typically) fed through feeding tubes — a lot can’t eat.”

Gabriell explained that she has viewed the Propionic Acidemia Foundation website and, understandably, found it quite unsettling.

“I looked at the website and they looked so pale — they looked so sickly — it was difficult for me to see,” she said.

“It’s very sad,” said Stacey. “When Gabbie was first diagnosed, the diagnosis was death — it’s not anymore — though kids with PA are prone to an early death.”

Stacey added, “Again, we don’t go on the regular Clinic Day — we don’t want her to see that.”

Looking forward with an attitude of hope and faith, Stacey said, “In the future, there is the possibility of gene replacement — replacing the gene that’s deficient — and when that happens, she’ll be cured.”

Awhile ago, Gabriell contracted a virus.

“I was in and out of the hospital, for 10 days straight,” said Gabriell. “I couldn’t move — I had a high fever of 103 degrees, and I couldn’t walk — it felt like being run over by a car.”

“She usually gets (high) ketone levels, when she’s sick,” Gabriell’s mother said. “Yet, she remained metabolically stable. That (virus) alone would have killed another child with PA.”

“They thought I had mono (mononucleosis) for the longest time,” said Gabriell.

“As she’s gotten older, she’s rolled with the punches,” Stacey said of Gabriell. “She is 12 now, and kids are apt to rebel — other parents worry their kids will take alcohol or drugs  — my fear is that Gabbie will rebel and get a tub of cottage cheese!”

Helping others like her

Gabriell knows exactly what she wants to do for her life’s work.

“I want to start my own bakery and be a chef for kids with what I have (PA) and serve low protein food,” said Gabriell excitedly. “I want to open a restaurant — worldwide restaurants  — and I want to be a professional dancer! I love to dance!”

There is no doubt that Gabriell will do exactly what she sets her heart and mind on doing!

Told it appears that she is beating the odds, Gabriell responded with self confidence and a profound sense of grace, saying, “If you set your mind to doing things, like I’m setting my mind to going and doing things with my life — I’m not going to give in! Yeah, it’s a struggle — but I’m going to fight! There’s things out there that I want to see and do, and I plan on doing them!”

Smiling, Gabriell’s mom said, “Exclamation point!”

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