Ottawa teen speaks about living with two rare genetic disorders

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Brenda Stocks gifted her husband Andrew a positive pregnancy test for his 40th birthday. The couple had just moved from their first home and were happily anticipating the arrival of their second child.

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Renee Stocks, born in 2003, was described by her mother as a highly active, happy child who loved to cuddle.

One early spring morning, Brenda checked on four-month-old Renee, who was sick with a cold.

After noticing that Renee’s breathing was abnormally strained, Brenda woke up Andrew. The pair immediately sensed something was wrong and travelled by ambulance to the Children’s Hospital of Eastern Ontario (CHEO).

The emergency department was busy that morning; Renee wasn’t deemed urgent. The parents waited 14 hours for an assessment. After a brief examination, a nurse would rush Renee to a resuscitation room and attempt to start an IV for fluids.

“That’s when I found out that she was very dehydrated,” Brenda said.

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Unbeknownst to Renee’s parents and doctors, she was in a metabolic crisis and experiencing decomposition.

“We had no idea. We did not know what this was …(medical staff) were warming diapers, putting them on her hands, her feet, her legs, her head, and nobody could get an IV in,” Brenda said.

According to MedlinePlus, a metabolic crisis occurs when someone suffers a combination of low blood sugar and an excess amount of acid in their bodily fluids. Symptoms include poor appetite, nausea, vomiting, diarrhea, extreme sleepiness, irritable mood and behavioural changes. If the metabolic crisis goes untreated, breathing problems, seizures, coma and death can occur.

While doctors were attempting to install a central line, Renee stopped breathing. The medical team immediately started CPR.

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Renee would be induced into a coma for a month and on a ventilator for 72 days.

FILE PHOTO: Nine-month-old Renee Stocks, (with her mother Brenda Stocks and father Andrew Stocks) has a short stay at home from CHEO.
FILE PHOTO: Nine-month-old Renee Stocks, (with her mother Brenda Stocks and father Andrew Stocks) has a short stay at home from CHEO. Photo by Kier Gilmour /Postmedia

After watching their seemingly healthy baby deteriorate in a matter of hours, Brenda and Andrew were confused and terrified. Brenda never left her daughter’s side.

“I literally had to be dragged out of the ICU,” Brenda said.

“I would tell her, you’re my baby, you don’t belong anywhere else, you belong here with me. And I’m gonna do everything I can to make that happen.

“I would tell her that every single day.”

A metabolics doctor thought Renee had a fatty acid oxidation disease, but could not diagnose her. Regardless, a treatment plan was created. First, Renee was put on a diet that suited her body’s capabilities.

Renee struggled to break down fats and proteins, so she was placed on a high carbohydrate diet and began taking an assortment of medications to help absorb proper nutrients and create energy.

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“She had gone to the operating room for organ, nerve and muscle biopsies. They took a piece of every organ and sent it off,” Brenda said.

It would take about four years to get results and for Renee to be formally diagnosed with two extremely rare genetic diseases: Glutaric Acidemia Type ll (GA2) and leukodystrophy.

According to the Children’s Hospital of Philadelphia, leukodystrophy damages the brain’s myelin sheath. The myelin sheath insulates the brain’s nerve fibres and the spinal cord, acting as a connector between the brain and the rest of the body. Symptoms typically increase in severity over time and are progressive. The disorder is characterized by movement, speaking, vision, hearing and mental and physical development problems.

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The Genetic and Rare Diseases Information Center reports that GA2 is a genetic disorder varying in severity that may be fatal. GA2 inhibits the body’s ability to break down proteins and fats to produce energy. Individuals with a severe case of GA2 may be born with brain or kidney malformations, an enlarged liver and unusual facial features.

Renee and her mom Brenda Stocks in 2007.
Renee and her mom Brenda Stocks in 2007. Photo by Jean Levac /Postmedia

“I wasn’t supposed to live past six,” Renee said in a recent interview.

“I’m very closed off, but I thought, you know what, you’re 18. You gotta make a step to start sharing your story.”

Dr. Danielle Bourque, a physician in the division of metabolics and newborn screening at CHEO, has recently taken over as Renee’s primary physician.

“Renee was born before we had comprehensive newborn screening for metabolic diseases in Ontario. At this point in time, the vast majority of our patients with GA2 are detected before they have any problems related to their condition,” Bourque explained.

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“We really only started in 2008. So most people are getting their diagnosis before they ever have any problems … it’s a completely different landscape now.”

Renee is Bourque’s oldest patient with a severe form of GA2.

“It’s so rare, we don’t have really a great understanding,” Bourque said. “In the past many children died at the time they first presented. We’re in this kind of almost transitional period, where we’re able to get children through that first devastating crisis and now getting our patients into adulthood. But we don’t have that many older patients at this point in time.”

The biotechnology company Moderna — well-known for producing COVID-19 vaccines — was originally a rare disease company. However, the company is working on making mRNA-based therapies for various genetic conditions.

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“We would expect if gene therapy becomes available for this condition, that gene therapy would be a cure,” Bourque said.

Renee Stocks and her mom Brenda Stocks
Renee Stocks and her mom Brenda Stocks Photo by Julie Oliver /Postmedia

Against the odds, Renee has blossomed into a young adult.

Renee has recently discovered a love for photography after receiving a vintage camera from her grandmother. She loves collecting crystals and believes in their healing properties. Her pets keep her company, and her room is spotless because she loves to organize.

She’s a self-proclaimed true crime fanatic and is pursuing a degree in forensic psychology at Fanshawe College. Her goal is to help people find closure in challenging situations.

Renee is quick with a joke and constantly flashing a smile.

“I’m a glass-half-full kind of person. I always think it could be worse,” Renee said.

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“There are other people who have it worse than you. I understand you have it bad, but think of everything else. It could be so much worse,” she repeats to herself.

Renee is hesitant to share her story with the world, fearful of others’ reactions.

“No one wants to be friends with the sick kid. So, I find it very difficult to make friends,” Renee said.

Growing up, Renee faced challenges that were unrelatable to most kids her age.

“I have a fear of the unknown because there aren’t a lot of kids who live past my age.”

School posed a constant threat due to the circulation of illness. She had to follow an extremely rigid medication routine. A backpack that was supposed to be filled with books and toys was stocked with extra feeding tubes and medical supplies.

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Because of her conditions, Renee has missed out on events and has been robbed of the typical teenage experience.

In the summer of 2021, Renee graduated high school from a hospital bed. She had been experiencing an absorption issue leading to a drastic 20-pound weight loss.

“I want to eat, but when I do I either get sick or nothing happens,” Renee said. “I was completely grey, I had no colour. I couldn’t stand to go to the bathroom.”

It would take three months to find a solution. In the meantime, Renee wasn’t able to walk across the stage to receive her diploma, she missed out on prom after being nominated as queen and she missed her dad’s retirement celebration.

Yet, Renee pushes through life’s obstacles with determination and a positive attitude.

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“If you focus on negativity, it doesn’t allow space for positivity,” Renee said.

As the world experienced the horrors of the COVID-19 pandemic and people voiced their opinions over restrictions and lockdowns, Renee’s life remained the same. She has been in home hospitalization since fall 2019.

“Do what you can to not only protect yourself but also others,” Renee advised. “I can’t do certain things because people won’t mask up. So that really cuts down on my activity level.”

Renee is currently anticipating a trip to Newfoundland and Labrador in July. While she’s on that trip, she plans to celebrate her grandma’s birthday and get a jelly bean house tattoo.

Renee wants everyone to value their time and live in the moment.

“Whatever the future holds, holds,” Renee said with a smile.

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