Christmas Eve night is a magical time of year. But it is more than puffy snowflakes floating under streetlamps and twinkling lights strung on houses. It is a night of miracles, a night when we wait for an amazing event to happen.
Every year as Dale and Tracie Lynn stuff their son’s stocking, the St. Albert couple gives thanks that Russell, 14, who nearly died in a coma, has defied medical predictions and is with them for another Christmas.
Russell was born with Lowe syndrome, an extremely rare genetic condition that causes physical and mental challenges and assorted medical problems. Identified in 1952 by Dr. Charles Lowe and his team at Massachusetts General Hospital in Boston, this multi-system disorder affects three major organ systems involving the eyes, brain and kidney.
Depending on the mildness or severity, individuals can develop cataracts, glaucoma, stunted growth, delayed developmental and intellectual ability, weak muscle tone, problems breathing, eating and have generally weaker motor skills.
Lowe’s only affects males and it is estimated that one in 500,000 boys are born with it. It is so rare that in Canada, there are only five other known cases, all outside Alberta.
It is a disorder that absorbs the entire household and in most cases, parents submerse their lives into meeting their child’s needs. But the miracle is that the family has grown closer. “We are so grateful to have him. Every day has been a bonus,” Dale says.
Although Russell is relatively stable at the moment, hospitals are a second home to him. In his relatively short life, the three-foot-tall, 70-pound teenager has undergone numerous procedures and has received anaesthetic for surgeries, dentistry, eye exams and CAT scans. “We stopped counting after 70,” says Dale with a wry grin.
There was nothing in Tracie’s pregnancy to indicate the crop of upcoming problems. “He was an ‘oops’ baby. With two girls, we’d hoped for a boy. It was a good pregnancy and the labour was one hour,” Tracie explains.
Born at the Sturgeon Community Hospital, on October 1996, it was immediately evident something was wrong. “He wouldn’t breathe. He lay in bed and looked like a frog. There was no muscle tone.”
Mother and son were transferred to the Stollery’s neonatal intensive care unit. Within a week a nurse remarked there was something wrong with Russell’s eyes. Tests revealed he had cataracts. “The doctors were floored. No one had answers.”
A doctor put the symptoms in a computer and Lowe syndrome popped out. The medical team took a skin biopsy and sent it for genetic testing to a laboratory in Texas. “At that time it was the only place that had the capability.”
The test came back positive for an enzyme deficiency. The Lynns also learned it is a hereditary condition passed on by the X chromosome. “In the beginning, when I was trying to wrap my head around all this stuff, it was hard not to feel guilty. But I realize it’s not my fault,” an emotional Tracie reveals.
Mutations or alterations in the OCRL1 gene cause Lowe syndrome. Although not fully understood, researchers have determined this gene provides instructions for making an enzyme that helps regulate the transport of certain substances to and from cells. A defective gene disrupts normal traffic among cells that can lead to life-threatening situations.
In his first year, Russell was inserted with a feeding tube because the muscle tone in his throat was so weak he could not swallow. He endured surgery for glaucoma and showed signs of developing Franconi syndrome.
Kidneys are essential in maintaining the right amount of salt, minerals, water and other substances in the body. In Franconi syndrome, the kidneys are unable to reabsorb essential nutrients into the bloodstream. Instead, they are all expelled in the urine. Few if any nutrients reach their intended destination. “They’re like leaky kidneys. They filter all that is good and bad.”
When Russell was five years old, he was inches away from death. Most individuals might consider the flu fairly harmless, however Russell went into septic shock. He was rushed to the Sturgeon coughing and non-responsive with low blood pressure and was again transferred to the University of Alberta Hospital.
“His body was shutting down. He was going into multi-organ failure. Three times we were called one night to say goodbye. It was so surreal. His lungs were swollen and breathing on a machine that was pumping almost pure oxygen.”
Miraculously he persevered and came out of a coma. But an MRI scan showed he suffered a stroke while unconscious. He was now blind and had lost all his muscle tone. “It was like starting from scratch. It set him right back. We didn’t think he would learn to sit up or walk again,” Dale says.
The stress for the entire Lynn family, including sisters Ashley now 18, and Jennifer, 15, was mountainous. Everyone was on autopilot. “At the time, I didn’t even think. The fact he was still here made everything else irrelevant.”
But the blindness traumatized Russell so severely, he was miserable for several years. Several behavioural issues cropped up such as lashing out. The stress on the family increased and there was even discussion with a social worker to move him from home.
However Dale asked Tracie, “Can you imagine getting up every morning without him?” And immediately everything became a moot point.
When Russell was six, he was enrolled at Elves Special Needs School in Edmonton where he receives speech, language, occupational therapy and physiotherapy.
“Most of the time, he’s a happy kid. He doesn’t take anything for granted. In summer, he loves to sit outside and listen to the birds and he listens for airplanes and fire trucks. At school, he loves circle time, stories, singing and the radio,” Tracie says.
But despite his warm attitude to life, Russell’s kidneys have deteriorated to 40 per cent capacity. And he’s been diagnosed with osteoporosis, rickets and has suffered two fractures in his left ankle because his bones are so brittle.
The Lynns are aware more problems will face the family and are doing more to educate the public. Ashley, a 2010 Paul Kane graduate who co-wrote a musical called Terminal Lowes with friend Steven Angove, says both she and her sister had to grow up quickly. “Going through this puts everything in perspective. He’s the whole reason I am going into what I’m going into,” says Ashley, now in special needs studies at MacEwan University.
Through the years, the Lynn family has received much of its support and education from the Texas-based Lowe Syndrome Association (LSA), the only one in North America. Through its website, families across the continent blog and connect with each other.
Although the LSA receives no government support, it has in the past 25 years donated $328,000 to research and much of what the medical profession knows today is a result of those grants. Most of the funding comes from its 420 members who have hosted sing-alongs, garage sales, dinner dances and walkathons. The LSA has a comprehensive website that lists the varying research grants distributed over the years at www.lowesyndrome.org.
But despite the much-needed research for a cure, president Debbie Jacobs says pharmaceutical companies “are a last resort.” Because of the disorder’s rarity, it is economically not feasible for them to plunk hundreds of millions of dollars into research.
“It’s also difficult to find a cure because it affects every cell. With cancer, you can target a specific area, but it’s hard to find a drug that works for the entire body.”
In the meantime, the LSA has developed a motto — Care Today, Cure Tomorrow. “We will never stop trying to find a cure, but at the moment we’re trying to find better treatment.”
The LSA is a registered charity and accepts much needed donations to help young boys like Russell. However, it only provides tax receipts within the United States. Donation can be sent to Lowe Syndrome Association, P.O. Box 864346, Plano, Texas, 75086.
