Season To Share: Mom needs wheelchair, medical van for son with rare, often fatal brain disorder
Nicole Bolufé was on the highway with her then 3-year-old son Liam Cruz when she received the call.
When Liam was born, doctors told her he suffered from cerebral palsy. But Nicole wanted to know more. After years of inquiry and derailed efforts to learn more, a geneticist was finally on the line.
“I got the results,” the geneticist said to her. “Where are you?”
“I’m on the road,” she said.
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He advised her to call when she got home. But Nicole couldn’t wait and insisted on hearing the news right away.
“Liam has a rare genetic disorder.” So rare, the geneticist told her, “I’ve never heard of it before.”
Allan-Herndon-Dudley syndrome. It’s a brain development disorder that causes severe intellectual disability and movement problems. It’s also known as MTC8 Deficiency.
As if that wasn’t bad enough news, the geneticist also said, “It’s worse than cerebral palsy. They don't have a long lifespan at all, and they regress.”
“It hit me like a ton of bricks,” she said. “And on top of it, I had no support, because I didn't know anybody with this diagnosis.”
That was 2015. Nicole eventually found a community of families whose sons have the condition through Facebook. She's learned there are only about 300 cases worldwide, just three or four in the U.S., all males.
What she's learned about living with the disorder would fill any parent with anxiety.
“I’ve been on edge since I found out,” she said of the past seven years. “And I've almost lost him quite a few times.”
A heart rate of 210 beats per minute, intestinal paralysis and iron deficiency
At the end of May, Liam’s heart rate spiked to about 210 beats per minute. As Nicole and her boyfriend sped to the hospital they had to pull over and call 911 when Liam became unresponsive.
They later learned Liam suffered from intestinal paralysis, a severe iron deficiency, a lack of nutrients in his system and tachycardia — a spike in heart rate which can cause sudden death.
Following the stories of other families familiar with the syndrome, Nicole has come to learn that the boys who have it tend to die suddenly, usually around the ages of 11 or 12.
"It was right before his 11th birthday, so I was on edge," Nicole said. "I really thought I was losing him."
Some do live through those birthdays, albeit with worsening health. Nicole has hope.
Where Liam's doctors once worried he was too small, that his body was not making the gains necessary to survive, he has rebounded now clocking in at 54 lbs and more than 4 ft tall.
But his growth is taking a toll on Nicole, who must carry Liam whenever he's not in his wheelchair. He's difficult to move and the effort taxes his mom, who suffers from a heart condition and also back problems.
Liam attends Woodlands Middle School accompanied by his nurse. He also goes to a daycare, staffed mostly by healthcare professionals. On Saturdays, he goes to Dunkin' Donuts with his mom and grandmother.
Liam's abilities are limited. One of his favorite things to do is drum — a love he developed watching his older sister in the marching band. He also enjoys a drive with his mom. She used to take him to shopping, to the movies or to Barnes & Noble for story time.
"Taking him in and out of the car, constantly, it's been difficult," Nicole said. “We used to go to the beach to watch the sunrise, and he would peel with laughter when he could see the water. But that has all had to stop as he has gotten taller, I just can’t lift him anymore.”
Liam has a day nurse and a night nurse at home, but when one cancels, the 24/7 care falls to Nicole, or Liam's father who also lives in Palm Beach County. The unpredictability of Liam's needs has cost Nicole several jobs. She wants work, but hasn't found a job that can accommodate her.
An unbreakable bond between mother and son
The two are rarely apart regardless and in each other's arms regularly — including every time Barney, that purple dinosaur, wraps up an episode with the "I love you" song.
Though he's 11, Liam speaks few words. Nemo is one. Another is "Mama."
At school he's learning to use an iPad to communicate. At home, he uses a picture book with images of his family, feelings, commands, movies and TV shows he can point to.
The book comes in handy for simple needs and wants, but also big, heartfelt messages. After Liam endured one of his seizures, Nicole handed him his book.
"How do you feel?" she asked him.
"And he goes, 'hug mama, hug mama,'" Nicole said. "That's my kid."
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Liam Cruz's Wish
Though Liam turned 11 in July, his needs are still greater than that of a newborn. He is prone to seizures, respiratory and cardiac failure and has needed a ventilator in the past. He is fed through a port in his stomach. Nicole would welcome a better wheelchair and van outfitted to his specific needs to keep him active, a key to his longevity. She would also need equipment to help her move him in and out of the van. Nicole also would like to turn her garage into a therapy room, for which she'd need a long platform swing, an adaptive tricycle, a lift and walking aid.
Nominating agency: Clinics Can Help, West Palm Beach
This article originally appeared on Palm Beach Post: Charity: Mom needs wheelchair, van for son with brain disorder
