Life

Colella family prepares for changes that will come with daughter’s rare disease

>Fred Kroner Fred Kroner
July 28, 2017

Photo: The Colella family, from Mahomet, includes Alexa Colella, Grant Colella,
10-year-old Ryan Colella and 3-year-old Charlotte Colella.

Charlotte Colella is, in many ways, a typical 3-year-old.

“She runs, jumps in your lap and knocks you over,” said Alexa Colella, her mother. “We call her ‘The Tank’ or ‘The Linebacker.’ ”

The youngster has dreams and ambitions, too.

“She loves animals and wants to be a doctor,” Alexa said.

When childhood milestone markers are evaluated, charming little Charlotte was, in her mom’s words, “always super ahead of the curve.”

She was talking at 7 months.

She was walking at 10 months.

In May, Charlotte Colella celebrated her third birthday.

Alexa and her husband, Grant, enjoy each and every one of the memorable moments with their daughter.

**
And yet, amid the smiles and jokes, there is what Alexa Colella calls, “this looming darkness every day, when will we start seeing signs?”

Charlotte Colella is not a typical 3-year-old.

She has what her mother said is considered “a pediatric terminal disease.”

Last Labor Day weekend, after experiencing stomach pains, Charlotte was treated for what in January was determined to be a rare and severe form of muscular dystrophy known as LGMD2C.

Her family has been told many young patients with this condition lose the ability to walk by age 10 and have a life expectancy of not more than 20 years.

Because the disease is so uncommon, however, there are no extensive studies on which to base tendencies and predictions.

“We’re talking maybe 50 people in the United States who have it,” Alexa said.

“We know of four other children,” Grant said.

**
Charlotte’s original symptoms were not unusual for a child.

She had a fever and stomach cramps.

A visit to the doctor, followed by a series of tests, revealed a diagnosis months later that wasn’t on the family’s radar.

“Initial tests eliminated a lot of things,” Grant said.

“Turns out it was MD,” Alexa said. “We were shocked. It was tough to process.”

Disbelief was their prevalent feeling.

“For a long time, we were like, ‘There’s no way,’ ” Alexa said.

They finally received indisputable news.

“We had genetic testing,” Grant said, “and we both are carriers of the (mutant) gene.”

**
The family moves forward while dealing with more unknowns than parents of most toddlers could dream of facing.

“In some ways, we get to prepare for what is coming,” Alexa said.

The Colellas started a Go Fund Me page to raise money for a service dog, which they expect will one day be a necessity.

“In two to three years, she will need it,” Grant said.

“We’ve been accepted into a program (that trains service dogs) and we’re waiting to sign a contract,” Alexa said.

The price tag is steep.

“We set a goal of (raising) $13,000 for the dog,” Alexa said.

Since March, more than $9,000 has been raised, including $1,405 in an event held earlier this month at First School, where Charlotte was recently moved into the preschool group.

**
The neurologist who is handling Charlotte’s case is based in St. Louis.

The frustration for the family is not the need to make the 3-hour trips.

“As a parent, when you go to a doctor you have a very deep and automatic trust because they are trained,” Alexa said, “but we are in a position where medicine hasn’t really gotten to a point where much can be done in the present.

“The doctors serve as a team member in helping access where the patients are at and what can be done to make marginal improvements (stretching, sometimes steroids, medical equipment) and advise about clinical trials or possible treatments as they arise. The parent has to be the ultimate advocate for their kid.”

It’s a reality the family is forced to accept. Doctors who work with patients with this rare disease seldom see happy endings.

“In all honesty,” Grant said. “his patients typically don’t get better.

“It’s not ‘There’s a treatment that may work.’ As of now, there is no treatment. There is no getting better.”

*
There is, however, one Mahomet family who is not giving up hope. Alexa and Grant are researching and studying any information they can locate.

Alexa calls it, “a weird reality.”

Added Grant: “The parents of the patients become the authorities.”

Their doctor will still have a vital role.

“He made it clear he will verify questions or concerns we have,” Grant said.

As of now, Charlotte appears fine, remains active and is among the approximately 150 students attending First School.

**

The family’s plan is, “we monitor her and let her be a kid,” Alexa said. “We stretch her and keep her limber.

“As soon as they stop being mobile, (the disease) progresses faster.”

Both Colellas work full-time. They have another job when they arrive home, in addition to parenting Charlotte and Grant’s 10-year-old son, Ryan.

Studying up on LGMD2C is a task they have diligently undertaken.

“We’re able to have our finger on the pulse of the medical research,” Alexa said. “We don’t have the time, but we have the motivation.”

In the back of her mind are some of the first words she remembers hearing from the neurologist.

“He said, ‘Very soon, you will know more about 2C than I do,’” Alexa said.

**
A service dog is not an immediate need, but it’s also not something where it’s advisable to wait until there is a need.

“It’s hard to predict when she will need it,” Alexa said. “What seems to be true of most service dogs is that the first year is rocky for them to serve.

“They are bonding and getting used to the new environment. We should (get on the list) now and get the dog when she is 5.”

The Colellas had a (pet) dog, but it developed cancer and had to be put down in 2016, the same year Charlotte was undergoing the tests that showed she has muscular dystrophy.

“We look forward to having a dog again, but not for these reasons,” Alexa said.

The service dog will allow Charlotte to remain more independent longer, which will also boost her self-esteem.

“It will give her a loyal friend while she attends too many medical appointments, and provide her comfort during the ones that hurt,” Alexa said.

**
In addition to the Go Fund Me page, the family has applied for a booth at the Mahomet River Fest, Aug. 25-26, where they plan to have children’s games with prizes as well as items for sale with proceeds dedicated to the fundraiser.

As for Charlotte, she is oblivious to what is going on.

“We tell her she has to go to the doctor a lot and we have to stretch her muscles, but she doesn’t know she’s different,” Alexa said.

“I don’t think she would understand the concept,” Grant said. Based on the progression of others who’ve had LGMD2C, Charlotte will eventually have difficulty getting up off the floor, walking or climbing stairs. Eventually, she could require a wheelchair.

The specialists she’ll see will go beyond the neurologist to include a cardiologist, a pulmonologist and a physical therapist.

And Charlotte’s stomach ache that originally prompted the family to seek medical attention hasn’t reoccurred. It was a one-time problem.

 

Fred Kroner, who covered sports for the News Gazette until his retirement in 2016, is now the editor of the Mahomet Citizen. Fred, who grew up in Mahomet, enjoys spending time with his wife, who also recently opened Lucky Moon Pies and More

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