At a passing glance, there’s almost nothing that would suggest Nash Neufeld has an extraordinarily rare medical condition.
He is active and social, cracking jokes, often running around with boundless energy.
Only his height and a small bump on his stomach give away his condition.
While Nash is three and a half, he is the size of a toddler half his age. The bump is the port for the feeding tube that kept him alive as an infant, the same one that his family still uses from time to time to supply him with water and medicine.
Nash has KBG syndrome, a condition caused by a rare genetic mutation. Around 200 people have been diagnosed with KBG worldwide since it was first discovered in the 1970s. Nash was number 78 on the list.
Nash Neufeld is one in 38 million – that’s how rare it is for a child to receive a KBG diagnosis, worldwide.
“KBG is a very all-encompassing disability. It affects you from your head down to your toes, but the severity in how you are affected varies from child to child,” said Jacquelyn Neufeld, Nash’s mother.
Nash doesn’t let the syndrome slow him down. He keeps pace with his older sister Janae. The two form a duo that is hard for their mother, Jacquelyn, and father, Brent, to keep up with.
Things weren’t always rosy for Nash. When he was born in 2015, it quickly became apparent that something was not quite right. Nash was unable to feed the same way other babies did. Doctors termed it a “failure to thrive.”
To find out why, the Neufelds ran Nash through a gamut of tests. Medical professionals poked and prodded the baby, trying to determine the root of the issue.
Then, things started to go wrong in health administration. A series of mishaps led to delays in Nash’s diagnosis.
“We looked into it – it just took a little longer than it should have,” said Jacquelyn.
“That would be, I think, our biggest regret and error with the whole thing with Nash – he shouldn’t have failed as much as he did back then. It happened. We just have to go forward from there.”
At that point, Nash’s lack of nutrition had become life threatening. The months-old child was dying of malnutrition, unable to feed. He was fitted with a feeding tube at four months old, one month later than most children with KBG syndrome. The cause of Nash’s issues was still unknown, but at four months old, his condition was slipping.
“It was mostly us getting bad news. We were told these were the possibilities because we didn’t know what was going on,” said Brent.
“We didn’t have a diagnosis at that point and it looked like it was going to be really awful. At that point, Nash was four months old and did less than a newborn. He slept 21 hours a day. That’s how he survived,” added Jacquelyn.
“He was so malnourished, he actually was shutting down. He was knocking at death’s door. At three months, he wasn’t.”
Trips to the doctor became more and more frequent. Today, Jacquelyn cannot remember exactly how many trips to the doctor the family took with Nash, but believes it was more than 30 separate six hour drives to Saskatoon for treatment. Brent and Jacquelyn sold their house to help offset their costs, moving in with Jacquelyn’s parents for a time.
It took some time for medical professionals to narrow down symptoms for the rare disorder. Jacquelyn said there were multiple diagnoses for Nash before doctors arrived at KBG syndrome. First, it was spinal muscular atrophy, a debilitating, incurable condition.
“We were told he would never get out of the hospital and his body was shutting down,” said Jacquelyn.
Then, the diagnosis changed to Prader-Willi syndrome, then to Williams syndrome, then on to other rare disorders. Cerebral palsy was considered for a short time.
Finally, in July 2017, after in-depth chromosome, genetic testing and almost two years of searching, KBG was determined to be the cause of Nash’s issues.
“They take your whole sequencing and they test every single chromosome for anything missing, deletions, errors, anything. They did me and they did Brent,” said Jacquelyn.
“Once they did that testing and found this error on that chromosome at that spot, that was the only diagnosis it could be.”
Given the severity of some of the other conditions, some of which could be considered terminal. KBG was almost a relief for the Neufelds.
“I love Nash with my whole heart,” Jacquelyn said.
“Would I want to go back and relive those first two years? No. Never again.”
Compared to conditions like spinal muscular atrophy, KBG syndrome is less common and less dangerous. There is no dramatic decrease in life expectancy due to KBG syndrome itself, but the side effects caused by the syndrome can be dangerous.
Nash exhibits many of the traits found in people with KBG syndrome: a small, thin build, dating back to his early life feeding issues, large upper teeth, a wide head vaguely triangular in shape and low ears.
“If you look at Google and the images for KBG, they look like him. It’s creepy. They look like siblings,” said Jacquelyn.
Physical side effects aren’t much to worry about. Neufeld said that the family will soon begin growth hormone treatment for Nash, which could add almost a full foot to his forecasted adult height and help him build muscle.
The things that cannot be seen with the naked eye are what Jacquelyn is concerned with. Some cases of KBG syndrome come with cognitive impairments and sensory issues. Nash hasn’t shown any signs of mental slowdown, but has had issues with both hearing loss and eyesight. His parents said he may exhibit some signs of colour blindness and he has failed hearing tests in the past.
“He can match colours, but if you flipped a card over and asked him what colour it was, he could not tell you. If you put a blue card, a green card and a yellow card and matching items and said, ‘Match them up,’ he could do that,” said Jacquelyn.
“He finally passed the hearing test in May. That was the first hearing test he wasn’t considered profoundly deaf in.”
KBG syndrome also has an effect on the immune systems of people who are diagnosed with it. Nash gets sick more than an average three-year-old, and when he gets sick, it is more intense and much longer lasting than a typical childhood flu.
“Because KBG is so new, there are still areas that scientists are discovering. One is there’s an autoimmune component to it,” said Jacquelyn.
“He’s put on antibiotics a lot. His body can’t seem to fight infections.”
Jacquelyn said the key for keeping Nash healthy is symptom management.
“The key for us was early intervention, getting a good team put together, getting our therapists working with us and making sure we did all the follow-through that they asked for. We could not praise our therapists and our doctors enough.”
These days, Nash’s most dire days are behind him and the future is bright.
He can eat solid food and no longer needs to rely on his feeding tube to survive.
Nash still has to go see doctors in Saskatoon, but the trips are far less frequent and the atmosphere less grim. These days, the family goes in about six to 10 times a year so doctors can keep tabs on Nash’s condition.
He shows few, if any, signs of the cognitive effects that KGB has in some patients.
“Nash is walking, he is talking, he has knocked over every barrier that they said he wouldn’t be able to do,” said Jacquelyn.
With day-to-day survival no longer in question, Nash has taken well to the opportunity to just be a kid. Nash has become a big fan of the Flin Flon Bombers. He said he wants to be the team’s goalie someday.
“Nash is a true blue Flin Flon boy. He wants to play for the Bombers,” said Jacquelyn.
“He’s waiting for his turn to play, every time he watches a game. He says, ‘Okay, I’m playing now.’”
When Nash turned three this year, family and people close to the Neufelds went all out. They reenacted a Bomber game at the Whitney Forum for Nash and dozens of his friends.
“We did a reenacted Bomber game with Johnny Doogs as a coach, Larry Feszczyn announcing over the PA system, the score clock running, we had Angela [Ishaka] sing O Canada and we had about 50 kids show up.”
The Neufelds even managed to use the party as a way to help others affected by KBG. A group for KBG, the Utah-based KBG Foundation, accepts online donations. The family gathered up $700 at the party and donated it to the foundation.
Jacquelyn has a long list of people she wants to thank for their work to help her family and son, adding that community involvement has played a big part in keeping the family on track.
“This town has just wrapped their arms around us.”
With school still two years away, Nash has started to make up for lost time, learning at a faster rate and reaching the normal level for a child his age.
“He is truly a three-year-old. For so long, we worked so hard with him because he was always having to catch up, physically catch up or with speech,” said Jacquelyn.
“Then, all of a sudden, he just did it. He’s there.”