All Michaelle Jinnette ever wanted was a big family—but when her fourth child arrives, her picture-perfect life is thrown unexpectedly off course.
Michaelle is a Licensed Marriage and Family Therapist, and mother of four young boys. Michaelle received an undergraduate degree in Human Development from UC San Diego and a Master's in Marital and Family Therapy from the University of San Diego. Michaelle founded the Cure KCNH1 Foundation after her youngest son, Tristan, was diagnosed with a KCNH1 gene mutation when he was 15 months old. Michaelle is determined to do whatever it takes to improve the lives of Tristan and all other kids with KCNH1-related disorders.
Transcript
Before my son Tristan was born, I was a normal person with a normal life. Actually, that's not true. I was a privileged person with a great life. I was raised by loving parents, I met an amazing man who became the best husband and father you could ever ask for, and I had a job I loved. I was perfectly content with my life.
I never had any big dreams or grand aspirations. My dad told me as a kid, “You can be anything you want to be. You can be president if you want.” But all I wanted my whole life was to have a family.
I remember someone mentioning when I was in middle school that I had leadership qualities, and I was completely baffled by this. And, frankly, I disagreed. I had no desire whatsoever to be a leader and I definitely didn't think I had the skills. What I always wanted was to have a big family.
Of course, I dreamed about all the normal things, hiking and camping, sports games and movie nights, family dinners, and beach days. Before Tristan, we were lucky to have three healthy little boys. Life was crazy and hectic with three kids five and under, but it was good. Everything was going according to plan.
And then Tristan came along in November 2019. From the minute I saw him, I thought something seemed a little off with his eyes, but none of the doctors or nurses mentioned anything or seemed concerned, so I didn't think too much more of it.
When he was about four months old, we started noticing that he wasn't reaching for things or bearing weight on his legs like his brothers had, so we got him into PT and OT and figured he would catch up, as many children do. He wasn't that far behind physically, so we were completely, completely unprepared for the severity of the diagnosis.
While the early testing had come back normal, so it wasn't until he was 15 months old that we finally learned what was wrong. I'll never forget that day, March 16th, 2021, when our whole world came crashing down around us.
I'm an optimist, so I was heading into that appointment, naively expecting it to be some minor thing that wouldn't change our lives that much. The geneticist was awful, completely matter of fact and uncaring as he drops this bombshell into our lives.
It's obvious he's never heard of Tristan's genetic disorder before and he knows nothing about it. Where does he care to learn?
He says, “You'll go on Facebook, you'll find a group, you'll learn more than anything I'll ever know.” Basically, you're on your own here.
We start asking him questions that he can't answer, so he runs back to his office to print off the one journal article he had taken the time to look up. He's showing us pictures of these severely disabled kids, talking about medication‑resistant epilepsy and looking at our sweet baby's face and using terms like “dysmorphia” and “coarse facial features”.
It's not computing for me. I just remember the one question that I asked with a pit in my stomach, dreading the answer. “Is there intellectual disability?”
“Oh, yes,” he says. “Profound.”
It took a long time for it to start to sink in. That first month, it was a fresh gut punch every single day. I would wake up in the morning, crying for a split second, and then suddenly it would all come rushing back and literally take my breath away. The life I had, the life I was expecting, the life I was expecting for Tristan and my family, all gone.
The one that hit me hardest was the fact that he would probably never speak. I don't know why, but in all my wildest worst case scenarios, it never even crossed my mind that my sweet little boy wouldn't be able to talk to me.
As a therapist, and my husband a teacher, communication is kind of a big deal in our house. I look at Tristan and I wonder what's going on in his little head. I dream about what his voice would sound like, what he would say. He has the sweetest little sing‑songy voice when he babbles.
And I take videos of it, desperately hoping that one day in the future, I won't hear it anymore because he'll be talking to me with a big boy voice, telling me about his day, telling me what he thinks, what he feels.
Then about a month after we got the diagnosis, Tristan had his first seizures, and that changed everything again. Tristan's seizures are utterly terrifying and traumatizing. He stops breathing, his face turns blue, and I hold my breath too, while desperately praying that I'm not watching my baby die in front of my eyes.
Every single time Tristan's had seizures, they've come in clusters, and each cluster has been worse than the last, most recently resulting in four days in the hospital. Several of the KCNH1 kids have died from seizures, some of them even in the hospitals, so we know that these seizures can quickly escalate to refractory status epilepticus that no amount of medical intervention can control.
That last seizure Tristan had, we're in the hospital. They're calling a code blue. Everyone's rushing in, doctors and nurses. They're putting the oxygen mask on his face. I can see that his O2 level is at like 20, just nothing. He's not getting any air.
The hospital team doesn't even have his rescue meds on hand, so we're grabbing the ones from our bags, then waiting helplessly for what seems like an eternity for them to take effect.
Some kids have a seizure and then bounce right back, but for Tristan, it takes weeks for him to recover and get back to himself. And that entire time, we are watching him like a hawk all around the clock, knowing that he is right on the edge of having another one.
And we know that they're terrifying for him, too. He can't tell us, of course, but one of his seizures happened in the car. And for weeks after that, he would struggle and fight and panic every time we tried to put him in the car, so we know they're awful for him.
We've also been through hellish side effects from the sedatives he's had to have to stop the seizures. After he got out of the hospital the last time, he had weeks of withdrawals that were just awful. He was utterly panicked, screaming and crying and trembling all day, startling at the slightest sound or movement, waking up every 20 minutes all night, terrified.
He refused to eat or drink or play, and just clung to us for dear life. If we tried to set him down, he would literally try to climb the wall, like he was trying to escape from some invisible monster.
Even though Tristan's seizures are, thankfully, rare, the fear of them hangs over us every minute of every day. It's been almost two years since his last clusters, but that PTSD response does not go away. Every weird look or unusual noise he makes and my heart stops. Every time someone in the family sneezes, my throat closes up. I start panicking since most of his seizures have been triggered by illness.
We live our lives constantly paranoid about germs, heat, loud noises, all the things that could trigger a seizure for him. We send our kids to school in masks years after the pandemic has ended, and they've gotten bullied for it, but they keep doing it to protect their little brother.
We're lucky that Tristan is relatively stable compared to a lot of rare disease kids, but we've still had numerous ER visits, ambulance rides, cancelled trips on holidays because of his seizures and other medical crises.
Our older boys spent last Thanksgiving in the parking lot of the ER, crying and worried. And the one before that they spent homesick, separated from us suddenly, unexpectedly, for a week, when we were all supposed to take a trip for a big family reunion. Instead, we sent them last minute with their grandparents while we went to the hospital with Tristan.
But beyond the medical crises, it's all the other day‑to‑day effects that are also really hard on our family. Tristan can't really participate in almost any normal activities, or else he doesn't tolerate them, which means someone always has to stay home with him or else we have to leave him with a sitter, which really breaks our heart that he can't participate fully in life.
I remember one Easter, dozens and dozens of kids at our neighborhood greenbelt, the excitement of Easter egg hunt and meeting the Easter bunny, and Tristan doesn't understand any of it. He doesn't like the noise and commotion. He's just sitting in his stroller, getting fussy and agitated while all the other kids are running around having a blast.
Even something as simple as a family movie night is a fight‑and‑conquer situation in our house, since someone has to be on Tristan duty, and follow him around the house since he won't sit and watch.
It's also the fact that he gets almost 20 hours a week of therapies but barely makes any progress. I don't think he's learned a new skill in over two years. For any of you who have healthy kids, just take a minute to let that sink in. Think about all the new things they learn every single day at school, all the new skills they gain in sports and other extracurriculars. And then imagine if they had one‑on‑one coaching 20 hours a week and didn't learn a thing.
What really breaks our hearts is that he's frequently agitated and screaming and crying for no apparent reason. And no matter how hard we try, we cannot figure out what's bothering him or how to help. He can't so much as point to something if it hurts, or nod or shake his head to answer a yes or no question, so we're completely in the dark. It's the most helpless feeling in the world to see your kid suffering and have no idea what's wrong or how to make it better.
And of course it affects his brothers too. No one in the house can relax or enjoy anything when Tristan's having a bad day.
I know we're not alone in any of this. One of my rare disease friends told me, “It's not a death sentence. It's a life sentence.” That hit me like a ton of bricks. It's not to minimize in any way the pain and heartbreak of our many rare disease friends who are facing the ultimate tragedy, the loss of their child, but a life sentence is overwhelming and devastating in its own way. A lifetime of watching Tristan endure never‑ending medical issues, procedures, seizures, distress, a lifetime of this new normal where nothing is normal.
Of course, the biggest fear of all, what happens when we're gone? How do you choose between putting your nonverbal, completely vulnerable and dependent child in a facility or asking his brothers to change the massive poopy diapers of a six‑foot tall toddler for the rest of their lives? I can't imagine doing that.
I can't imagine putting Tristan in a care facility. I've heard too many horror stories and I've seen them firsthand with my grandparents, even at the supposedly nicest nursing homes in the area. But I also cannot imagine asking our other boys to take on the all‑encompassing demands of caring for him.
So after Tristan was diagnosed, as we're starting to come to terms with the severity of the prognosis, we're completely crushed and overwhelmed as we envision Tristan's future and the loss of the life we had envisioned for our little boy. I was angry at the unfairness of it all, and how one randomly mutated incorrect nucleotide out of 3.2 billion could change everything and keep us from ever getting to know who he would have been. I was completely heartbroken and I was not ready to accept this fate for him.
I had some vague awareness of CRISPR and gene therapies and I wondered if we could somehow create one for Tristan. So, I start reading all the published papers, start reaching out to anyone and everyone who studied this gene, staying up all night, poring over my computer, sending emails to scientists all over the world.
I start connecting with other rare disease parents and I learn that people have actually done this. Other families have raised millions of dollars and developed gene therapy cures for their kids. I figure, well, if they can do this, so can we. And overnight, I go from being a normal person to this crazy warrior advocate lady.
Always the naive optimist. I had no idea what I was in for. I had no idea that it would consume me, take over my life, take over my career, take over my family.
We started the process to create a foundation, we start fundraising, and I start doing a million things I never thought I'd be doing, like learning microbiology and electrophysiology and neuroscience and web design and video editing and marketing. I'm writing grants and planning events and going on TV and podcasts and advocating with legislators and speaking at conferences. It turns out, I'm pretty good at this stuff. I've discovered all these strengths and abilities I never knew I had and our organization has been incredibly successful.
But it's come at a huge cost. My family pays the price, and I constantly, constantly feel guilty because I'm missing my kids' childhoods. I'm trying to change our family's future, but I'm missing the present, and I know I could never get that back. It feels like acceptance might be the happier, healthier path. Fighting reality, trying to change our family's reality, it's exhausting.
I mean, secretly, I also find it exhilarating a lot of the time. Seeing the progress and the successes, being the person spearheading this global effort that stitches together all the different pieces necessary for effective drug development, and knowing that you're changing the landscape for KCNH1 and, hopefully, creating a better future for all the other kids and families, it's exciting. Knowing that transformative treatments and cures for these devastating genetic disorders are within reach for the first time in history, and that you’re helping to advance cutting edge technologies that can help not only our kid but many, many others, it's incredibly meaningful and rewarding. I've become obsessed with this in a way I've never been obsessed with anything.
My husband says, “I did not sign up for this. I never would have married a workaholic.”
But I refuse to give up my dreams of a normal life. All I want is for our family to be able to live our lives without the constant fear of seizures, without weighing every single activity or exposure against the risk of Tristan ending up in the hospital or worse.
All I want is to be able to have just a few things that we can all do together with family and enjoy. All I want is to be able to sit down and have a family dinner without the stress of trying to get calories down my frequently difficult and uncooperative little guy. All I want is for Tristan to be able to communicate, even a little bit, and for him to be able to actually learn and benefit from all the time he spends in therapies.
Ten years ago, that would have been too much to ask. The gene hadn't even been discovered. Like all the families that came before us, we would have had no choice but to accept this life. Today, I have a choice, and I'm choosing to use my grief and my anger and my lack of acceptance to make a difference.
I hope one day I'll say I wouldn't change a thing. I'm not there yet. If I could fix that one incorrect nucleotide that changed everything, I would do it in a heartbeat. But if I can take these cards that our family was dealt, and I can use my newfound talents to help not only Tristan and our family to have a more normal life, also give that gift to the rest of the KCNH1 families, then maybe I'll be able to say it was all meant to be. And most of all, I hope my family will say it was worth it.