By Patty Roy

On New Year’s Day, a breezy beach in Douglas saw dozens of hardy souls plunge into the 39 degree waters of Wallum Lake. Swimmers hastily stripped down to swim suits, then with a few loud yells and big splashes ran into the water and ducked under, all for a good cause. 

 

As the swimmers emerged shivering and smiling, they grabbed towels and sweatshirts and headed towards the firepit and barbecue where 8 month old Shelby Bedard was being held by her dad, Bob. Her mom, Shauna, a photographer, was wandering the beach snapping pictures of the couple’s friends and family who have had a cottage on the lake for years. 

Shelby was the star of the day because this Polar Plunge was being held in her honor to help fund her medical needs.  The blue-eyed, cherub-cheeked baby had been born with an extremely rare metabolic disease, Glutaric Acidemia Type 1, referred to as GA-1. It is so rare, there are only about 168 cases in the United States. 

GA-1 is a lifelong condition that makes it impossible to process the amino acids – Lysine, Hydroxylysine and Tryptophan – that make up proteins, so affected babies cannot digest them. Forbidden foods include meats, dairy, nuts, beans and legumes.

“You have to eat proteins to grow,” said mom Shauna. “So it’s an unfortunate situation for her. Thankfully, Massachusetts does the newborn screening where they test for GA-1.”

Shelby was tested at four days old and her mom’s memories of the day are vivid. 

“It was probably the most stressful day of my entire childbirth because you are just flooded with all these questions. What is this disorder? Is she going to be able to live a full life? Is she going to be able to survive?” 

If a newborn is not diagnosed in the first week of life, by age two months, the baby will most likely suffer severe, irreversible damage, she said.

Shelby gets two grams of protein for right now. 

“Hopefully, we’re looking to increase it slowly over time and maybe when she’s an adult she may get 15-20 grams of protein, if we’re lucky,” Shauna said.

Having too much protein can spark a metabolic crisis and leave the child with muscle spasms, seizures, brain swelling and eventually lead to death.

“The effects can be like muscular dystrophy or cerebral palsy,’ she said. Additional concerns are possible learning disabilities, developmental delays and low muscle tone.

“If we follow the protocols at the doctors’, and we’re really careful, we can avoid a metabolic crisis,” said Shauna. “Then, hopefully, she’ll live a normal life, but she’s going to be on this special formula for the rest of her life. There is no cure.”

There are frequent trips from their Whitinsville home to Mass. General Hospital which has the only specialist team in New England. 

Both parents have to have the gene, she explained, and even then, there is only a one in four chance of acquiring the illness.

Shauna and Bob are extra cautious with their baby’s health at this time of year. If Shelby gets sick, they end up at Mass. General where she’s had five overnight visits already this year. 

She is in the 20th percentile for weight and is a very active baby, her mom reports.

“So she’s developing her motor skills and miraculously has hit all her milestones, which is not the case for a lot of kids. We’ve just been really lucky.”

Shelby has 15 ounces daily of a special formula that has removed the amino acids she can’t eat. She has also been eating some solids like bits of apple. If Shelby doesn’t get the formula, the doctors will insert a gastronomy tube for her necessary nutrients. 

“If she has a seizure, she’ll probably end up in a coma and the kids that end up in a coma die,” Shauna said.

The formula is expensive, and the Bedards’ health insurer has refused to pay for it. 

“They said they wouldn’t cover anything until our family deductible was paid, which obviously is a lot of money when you’re not expecting it,” she said.

Fortunately the family just got approved for MassHealth CommonHealth that serves eligible disabled children.

The Bedards’ fundraising efforts also include selling #teamshelby bracelets and, at the Polar Plunge, raffling elaborate gift baskets.

Money raised will be used to pay for Shelby’s food and the rest will be donated to NECPAD, (necpad.org) the New England Connection for PKU and Allied Disorders, an organization that was helpful to the Bedards when Shelby was first diagnosed.