ALBUQUERQUE, N.M. — He was a big, healthy baby, weighing in at 8 pounds, 9 ounces; a happy boy, they thought, because he didn’t cry.
He never cried.
His parents called him Luke the Lion because they knew someday he would rule hearts, though he already ruled theirs, and because of the plush toy lion that became his constant crib-mate.
But Luke, the first child born to Jana and Khang Ngo and the first brother to Jana’s daughter, Mia, was not long for this world. On that beautiful July 28, 2012, birthday, no one could have imagined that.
“The pregnancy was great, the delivery was amazing, everything was good,” Jana Ngo recalled. “The doctors just don’t know why or how he got the disorder. He’s just one of the very few.”
Very few indeed. It took days for doctors to diagnose Luke with urea cycle disorder, a genetic condition so rare that only one physician in Albuquerque among the many consulted had ever seen a case so severe, or at all, she said.
“It was really scary to know that doctors had no clue how to save our son, what was wrong,” she said. “It was like they were going down a list that by the time they got to the end of it he was so very sick.”
Newborns with UCD lack the enzyme that breaks down protein, leading to an increase of ammonia in the bloodstream until the body shuts down. They typically become “catastrophically ill” within 36 to 48 hours of birth, their deaths often inaccurately attributed to sudden infant death syndrome.
Luke the Lion lived for nine days, on dialysis and life support, his little body slowly self-poisoning. Jana Ngo held him in her arms as the ventilator was disconnected Aug. 6, 2012. His heart stopped eight minutes after that.
Somewhere in the depths of her grieving, Ngo met a kindred spirit and a comfort. Ashley Rivas had been hired to replace Ngo at the medical clinic where she worked during what was supposed to be her maternity leave. The two hit it off after Ngo, an X-ray technician, returned to work.
“We were like instant friends,” said Ngo, 32. “She was a huge, huge support for me around that time. It was like the universe put us together.”
So wise, that universe. In April 2013, seven months after Luke’s death, the supporter became the supported. Rivas was diagnosed with a rare form of lung cancer called carcinoid, a slow-growing type of neuroendocrine tumor. A month later, a large tumor (that Rivas in her wacky humor had named Ralph) was removed from her right lung along with the lower three-fourths of that lung. Six weeks later, she joined a running group training for marathons.
Rivas’ spirit was the focus of my Oct. 8, 2014, column (“Living strong after cancer”).
Like Ngo’s baby, Rivas had been knocked over by a rare disease. Like Ngo, she got back up and sought purpose in the darkness.
“I needed to prove that anything is possible,” said Rivas, 35. “That there is always hope and that there are rare diseases that really affect people and more needs to be known about them.”
For Ngo, finding purpose has been a way out of her grief.
“I don’t want to waste my pain,” she said. “I want to use it for something meaningful. Luke was born with this disease for a reason. He was here with us for a reason.”
The women decided they wanted not only to bring awareness to the rare diseases that had befallen them but to the nearly 7,000 rare diseases that afflict millions throughout the world yet often have no cure because of the lack of research due to a lack of funding and recognition.
Raising awareness, the women knew, is better when the effort is treated as an adventure.
And so, Mount Kilimanjaro.
Rivas said she got the idea to climb the 19,340-feet peak in Tanzania after hearing a lecture by Sean Swarner, a survivor of two bouts of cancer who with just one functioning lung successfully climbed each of the Seven Summits, the highest peak on each of the seven continents. Each year, Swarner, of Breckenridge, Colo., leads an expedition up Mount Kilimanjaro, the highest point on the African continent and the tallest freestanding mountain in the world. This year, the expedition leaves July 17.
Ngo and Rivas plan to be there.
The women are organizing several fundraisers – from 5Ks to brewpub nights to special doughnut sales, they hope – both to help defray the cost of the expedition and to donate to the rare disease foundations. They expect to kick off their efforts closer to Rare Disease Day, which this year is Feb. 29.
They’ve also begun training for the climb. You can find out more about their journey and their fundraisers on their Facebook page, Ashley-Jana Climbing-Kilimanjaro.
After Luke’s death, Ngo said, she learned she was not a carrier of the disease. A genetic fluke had given her son that rare disease, which made it all the rarer.
Cautiously, nervously and, finally, gleefully, she and her husband welcomed two more sons into the world – Noah, 2, and Orion, 5 months, to join sister Mia, now 13. All are healthy and happy, she reports.
Not a day goes by, though, that she doesn’t think of Luke the Lion. He still rules her heart. I suspect he always will.
UpFront is a daily front-page news and opinion column. Comment directly to Joline at 823-3603, firstname.lastname@example.org or follow her on Twitter @jolinegkg.