Less than a month after losing their 21-month-old son to Menkes, a young Williams Lake couple is hoping their story will help create awareness about the rare, fatal disease.
Twenty-four-year old Brittany Macdonald, and her husband Shawn Menzel, 24, say they had never heard of Menkes until doctors at Children’s Hospital wondered if that’s what their son Alex had after he began having prolonged seizures.
“You always hear about rare diseases, but don’t know what’s on that list until you go through something like this. We’ve been to hell and back over the last 20 months,” Macdonald says.
Alex Menzel was born on Feb. 9, 2010 in Williams Lake. He arrived a week early, but was healthy.
That was until three months later when he began to exhibit symptoms that something was wrong.
He wasn’t waking up to eat, and Macdonald, who had seizures as a child and grew out of them, began to wonder if her son might be having seizures, too.
With Menkes the brain and other tissues are deprived because of the intestine’s inability to absorb copper. Aside from seizures, other symptoms range in severity, but can include failure to thrive, weak bones and muscles, and difficulties with feeding.
Patients with Menkes are treated with copper replacements, and if administered early enough, the treatments can have more positive results.
While females carry the mutated gene that results in Menkes, the disease is only contracted by males, occurring in one in 100,000 to 250,000 live births.
Normally symptoms begin to show at age two to three months.
At the emergency department at Cariboo Memorial Hospital the medical staff quickly suspected Alex was indeed having seizures and arranged for an airlift to B.C. Children’s Hospital in Vancouver.
Hospital tests revealed Alex was having silent seizures — his brain was misfiring and causing seizures without showing any outward signs.
Some results indicated his seizures were lasting upwards of 90 minutes, recalls Macdonald.
After a month in Vancouver, and more tests, Alex was prescribed medication for seizures and the family returned home to Williams Lake.
In August, Dr. Ramona Salvarinova-Zivkovic at Children’s Hospital first suggested that Alex might have Menkes.
“She was the one, as a parent, that did a great job. It’s a burden for a parent to manage on a daily basis,” Salvarinova said.
Alex was then assigned to Prince George paediatrician Dr. Bill Abelson and, on Nov. 4, 2011 the test results came back confirming he had Menkes.
“We found out that Dr. Abelson had treated someone with Menkes 15 years before in Toronto so that was reassuring,” Macdonald recalls.
Her son began receiving copper injections daily. The treatments were uncomfortable and he would cry for five or six hours at a time.
Eventually the family received nursing support at home, with various nurses taking turns spending nights and days to help care for Alex.
Even though Alex lost the ability to nurse and had to be fed through his side, by early summer he seemed to have responded positively to treatment and care.
“It got to the point where he was almost like every other baby. He wasn’t this baby that had all these issues,” Macdonald says.
However, by the end of the summer they decided to discontinue the copper treatments because they were causing him so much discomfort and didn’t seem to be helping.
He also developed hard lumps the size of golf balls where the copper was injected.
In September, Alex’s breathing pattern took a turn for the worse.
His chest was barrelling and he was in-drawing to breath. After prescribed medication resulted in no improvements, Macdonald and Alex returned to Vancouver, where he was prescribed morphine to help relax the muscles and open up his airwaves.
Menzel says he missed a lot of time with Alex because he had to work.
“Most of the times they went out of town and I wasn’t able to go with them, especially if they were in Vancouver,” he says. “That was hard.”
Alex and Macdonald returned home for what would be Alex’s last time.
They had a scheduled appointment for the end of October, but by the third week Alex was digressing so rapidly it was important to return to Vancouver.
Once they arrived Alex became progressively more uncomfortable and irritated.
His heart rate was going sporadically and his body was stressing every time he was fed.
Macdonald and Menzel were then told their son would not be returning home with them.
“We began to talk about end of life care for the first time, even though there was a little part of me that hoped they would be able to fix him. On that day they completely stopped putting any fluids into him,” Macdonald recalls.
She then began planning an early second birthday party for Alex. It was important to mark the milestone, she decided.
Canuck Place, where the family had been staying, bought a cake, balloons and fixings for the party.
“They were so great to us at Canuck Place,” Brittany says.
By the next morning colour had returned to Alex’s cheeks, but by dinner time he was fading.
Yet the 21-month-old continued fighting for his life another four and a half hours as if he was waiting for something.
Normally Macdonald’s and Menzel’s three-year-old daughter Mika was in and out of her brother’s room, but for some reason had not visited him that day.
Then late that evening, while Alex lay in his dad’s arms, Mika burst into the room, approached her brother, gave him a hug and told him she loved him.
Macdonald put her hand on Alex’s leg, and 30 seconds later his heart stopped.
It was a year to the day he’d been diagnosed with Menkes.
“That was the hardest thing,” Macdonald says. “A selfish part of me wanted them to bring him back, but I had to let him go.”
For more information on Menkes, visit http://www.ninds.nih.gov/disorders/menkes/menkes.htm.