by Jackiee Sweet
PORT AUX BASQUES – How would you feel if the light of your life was shut off not once, but twice? Not many find themselves in this scenario but unfortunately for Brittany Gaudet, this is her everyday life.
On June 21, 2016, Brittany received heart wrenching news. Thirteen weeks pregnant at the time, she learned that her beloved oldest daughter, Ava, then four, had been diagnosed with late infantile Battens disease (CLN2).
Battens Disease is a terminal neurodegenerative disorder that affects the nervous system. Only 20 children are born with this disorder each year in the United States. Children with CLN2 disease produce insufficient levels of the enzyme TPP1 (tripeptidyl peptidase 1).
Without this enzyme, children are genetically unable to dispose of wastes normally metabolized in a cell’s lysosomes. The wastes accumulate in organs, particularly the brain and retina, contributing to the loss of cognitive, motor and visual functions. Symptoms usually appear between ages two to four. Ava passed away when she was only five and a half years young on Aug. 30, 2017.
For most people this would be a devastating and crippling blow. Many would have packed up, shut down and run far away. But Brittany didn’t get that choice.
Instead she had to pick up the pieces of her heart and put them back together for her remaining family. That included daughters Cali, who was three, and Jersey, who was only eight months old. She and her children did all they could to cherish their time together. Life seemed better and happier for the family until tragedy struck again.
On Dec. 7, 2019, Jersey, then three years old, had a seizure in the family home.
“She coughed,” said Gaudet, “but not a normal cough. As a mother you just know when something sounds or looks off.”
Immediately Brittany took out her phone and started recording. From past experience she knew that the neurologist would need to see it in action, and Brittany needed to time the seizure.
Jersey experienced what’s known as an ‘absent seizure’, which is far different than the grand mal seizures Ava used to have. The seizure lasted a long six minutes. Brittany jumped into action and grabbed Ava’s old and expired medication she had left over and administered it to Jersey. She then promptly took her daughter to the hospital.
Five days after that first seizure, Jersey and Brittany were at the St. John’s Janeway Children’s Hospital. They were getting ready to leave for the journey home when Jersey had her second seizure.
This particular seizure lasted 45 minutes and needed three different medications to stop it. Jersey was then admitted to the Janeway for a total of five days, but doctors advised that she stay close by for the next few days in case of any side affects from the medication.
On Dec. 30, 2019 Brittany got the call confirming what she already feared – Jersey was diagnosed with CLN2 – the same disorder that ripped her older sister away. Since then, Jersey has been approved for a new ERT (enzyme replacement treatment) called Brineura.
This treatment requires Brittany and her children to travel to St. John’s bi-weekly so that Jersey can receive an ICV (intracerebroventricular) injection via a port in her brain, which was placed in via brain surgery. This treatment is life-sustaining and will delay the onset of symptoms, all except for Jersey’s eyesight which will eventually fail. Jersey will receive this treatment for the rest of her life.
Months after it all began, Gaudet is coping the best she can.
“The sky is the limit for my kids. I won’t stop until I can do all I can for them.”
It goes to show that you can conquer what you put your mind to, even in the toughest of situations. A mother’s love goes above and beyond.