Encinitas couple copes with 2-year-old’s unique condition
Encinitas parents Michaelle Jinnette and Kevin Witt recently felt their spirits uplifted.
Two-year-old Tristan had motioned with his hands toward his mouth, signaling he wanted to eat. The couple viewed it as a breakthrough.
Then after about a month, Tristan’s gesture disappeared as mysteriously as it had arisen.
“He doesn’t know how to talk but he had learned how to sign for food,” Witt said. “He’d been doing it for a month. ... He was able to tell us when he wanted food and that was huge. ... And then a week and a half ago, he lost it.”
It was yet another setback dashing their hopes that the boy was making progress despite the monumental roadblock of being born with a rare condition blocking his development.
“Every time that he gains a skill, whether it’s sitting up or taking a step or now signing, it seems like an inevitable wait to when he is going to lose it,” Witt said.
That’s not the worst of Tristan’s issues. His health is extremely fragile. A touch of sickness could trigger an epileptic seizure. That concern was exacerbated amid the coronavirus pandemic.
Moreover, as a history teacher at San Dieguito Academy, Witt interacts with dozens of students daily; sons Colton, 8, and Caden, 6, are now back in elementary school and Trae, 4, is in preschool.
Such is the life that Jinnette and Witt cope with daily since the birth of Tristan in November 2019 and their realization that he was not functioning like their other boys who preceded him in birth.
They put Tristan into developmental therapy, then took him for genetic testing.
Nearly a year ago, a geneticist told them that Tristan suffers from a KCNHI gene mutation, also known as Zimmerman-Laband Syndrome. The condition is characterized by severe intellectual disability and epilepsy.
Jinnette said the geneticist told her he had never seen it before. There were only about 50 known cases around the world and Tristan’s case is unique among them. There is no known cure.
“It was really shocking,” she said. “We went in there completely unprepared. We had no concept of how severe the diagnosis would be. We knew he had some physical delays, but they weren’t extreme. ...
“My big question (to the geneticist) was ‘Will there be cognitive and intellectual disability.’ And he said, ‘Oh yeah.’ I was like, ‘How severe?’ ‘Profound.’ It was such a huge blow.
“He said, ‘I’ve never seen or heard of this thing before. You’ll learn more than I’ll ever know.’ It was just kind of like, ‘Good luck.’”
During an interview for this article at their Encinitas home, Jinnette was overcome with emotion when recalling the experience.
“It changed everything in that one moment,” she said. “It went from having a happy, healthy quote-unquote normal life to he’ll never grow up and fall in love. He’ll probably never have the capacity to have friends or be friends with his brothers. ...
“Most of these kids can’t feed themselves. They can’t be potty-trained. It changed every aspect of our lives.”
What also changed was mom and dad’s outlook. From their initial despair, they became aware that steps could be taken, including medicine, to help Tristan eventually lead a more normal life. That realization grew into determination that they could be part of the solution of finding a cure through an as yet unproven gene therapy.
“I started reading every (medical) journal article on KCNH1 that I could find,” said Jinnette, a marriage and family counselor who studied human development at UCSD.
“I found somewhere in some article that they’ve engineered mice that have a similar mutation and given them medications — channel blockers — and it improved their cognitive function.
“And then we heard about gene editing and and all of that. And this devastated mom was thinking, ‘Why can’t we give him some of these meds. Why can’t we give him gene therapy?’ ...
“It took me months to realize that this was not some pipe dream. ... People are actually doing it and they’re saving their kids’ lives. ... I started contacting researchers around the world and contacting other rare-disease parents and advocates.”
Given the rarity of Tristan’s condition, Jinnette and Witt realized they would have to work with researchers to find the panacea. They know the effort is going to take money beyond their means.
“We’re on the cusp of a gene therapy revolution,” Jinnette said. “I hope in another 10 years, it will be kind of the standard of care, so these things won’t be so life-shattering.
“But right now we’re in this in-between place where treatments are possible. The technology exists, the funding doesn’t. ... That’s why we have to raise it ourselves.”
They applied for the creation of their own fundraising nonprofit, which didn’t gain approval until December.
Meanwhile, they created an account on GoFundMe, a social media site used to raise money for myriad causes. The site, https://www.gofundme.com/f/68pw3y-treatments-for-tristan provides details about Tristan’s condition, the family’s experience and their goal of raising $1 million toward treatment and a cure.
“My husband opened an Instagram account to post the GoFundMe and he had like 1,000 followers within a day and it was one of the top medical GoFundMes in the country,” she said. “We had 1,000 donations and $50,000 in three days.”
The total had reached nearly $67,000 as of Monday, Feb. 21.
“I definitely want to give a shout out to his former students who really spread the word like wildfire on social media,” Jinnette said. “They were amazing with that and really came through for us. It was very heartwarming for my husband. The support from the student community has been amazing and it really, really touched our hearts.”
Witt said he initially didn’t share what he was going through at home with his students.
“I didn’t tell my kids this year until the last day of class of the first semester just because I didn’t want them to change their perceptions of me or anything like that,” he said. “When I did tell them, I got this outpouring of support. All of my classes gave me a giant ‘Thank You’ poster on the first day of the next semester. ... I have it hanging in my classroom now. It means a lot, which is why I keep doing what I do — keep moving forward for everybody.”
Also, Jinnette acknowledged the support the family has received through friends and family, including the boys’ grandparents, who have helped out with pragmatic contributions such as sending over meals or taking the older brothers to the park.
The couple plans to unveil their nonprofit and a related website in conjunction with Rare Disease Day on Feb. 28 and they also plan to explore other fundraising strategies.
“It helps to feel that we’re doing everything we can,” Witt said.
Jinnette plans to continue communicating with researchers at Northwestern University in Chicago and the Max Planck Institute in Germany who are studying the KCNH1 mutation affecting Tristan as well as with parents of children with conditions similar to their son.
“My huge dream is for him to be able to say his brothers’ names,” Jinnette said.
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