July 10th, 2026
Finding Peace of Mind Again
Ezra was born on Valentine’s Day in 2022—our little love story came to life.
For the first few months, everything felt normal. My husband and I are both teachers, and we started to notice that something felt a little off around the time she was 3 or 4 months old. She wasn’t hitting the same milestones as her older brother had. Small things at first, but enough that we trusted our instincts and talked to our pediatrician about early intervention.
Around that same time, Ezra started having little leg twitches. We shared videos with her doctor, and at first, it wasn’t something the doctors were overly concerned about. But we were told what to watch for—just in case.
Then, while we were out of town on vacation in June 2022, Ezra had her first seizure.
Everything changed in that moment.
Searching for Answers
That summer became a blur of appointments, tests, and uncertainty. On August 26, 2022, we finally had an answer: Ezra was diagnosed with CDKL5 deficiency disorder. Shortly after, she was admitted to the children’s hospital, where infantile spasms were confirmed.
Like so many rare disease families, we went from not knowing where to start to having to learn everything all at once.
Managing the Day-to-Day
Ezra started on therapy in the form of powder, and while the medication itself helped her, giving it was incredibly difficult for our family.
Every dose required mixing packets with a specific amount of liquid. But because Ezra only needed part of that mixture, we had to prepare the full dose anyway. It constantly felt like we were pouring medicine and money down the drain.
Even more challenging was how she would take it. Ezra would only accept the medication in a bottle, and only from certain people. That meant my husband and I had to be there for every single dose.
For nearly three years, Ezra went everywhere with us.
We couldn’t be out during medication times. We couldn’t rely on others to help. Our entire routine revolved around those moments twice a day. It was exhausting, stressful, and isolating.
"We couldn’t be out during medication times. We couldn’t rely on others to help. Our entire routine revolved around those moments twice a day. It was exhausting, stressful, and isolating."
A Moment of Unexpected Hope
In December 2025, we attended the American Epilepsy Society (AES) conference through the International Foundation for CDKL5 Research. My husband stopped at the PANTHERx® Rare booth and encouraged me to come over and talk with the team.
I’ll be honest, I walked away feeling unsure.
We had already spent six months trying to get the insurance approval to transition from the powder form to liquid. We had been denied again and again. It was hard to believe anything would be different this time.
But it was.
A Seamless Transition and a Breakthrough
When Ezra was finally able to transition from the powder packets to the oral solution, the adjustment was smoother than we anticipated.
One unexpected benefit was that she was comfortable taking the medication. The administration method was also different, and over time, we found that it fit more naturally into our family’s routine. That change helped simplify some aspects of her daily care and reduced a bit of the stress that can come with managing a chronic condition.
For the first time in a long time, things felt… easier.
The biggest change for me, though, has been peace of mind.
Before, I was always questioning whether we were preparing the medication correctly. Was the concentration right? Did we mix it properly? Could something we were doing affect how well it worked?
Now, there’s no uncertainty. I know Ezra is getting the exact dose she’s supposed to, every time.
That kind of confidence is something every parent deserves—but especially in the rare disease world, where so much can feel out of your control.
“For the first time in a long time, things felt… easier. The biggest change for me, though, has been peace of mind." - Heather
Support That Makes a Difference
The PANTHERx team has been incredible for our family. Every interaction has been positive, supportive, and easy—something that’s rare when you’re navigating complex care.
The bridge program has been especially meaningful. While we’ve continued working through insurance approvals, Ezra hasn’t missed a single day of her medication.
And maybe just as important—I’m no longer the one on the phone, in tears, trying to explain to insurance companies why this medication matters for my child.
That burden isn’t mine to carry alone anymore.
Today, the difference is simple but profound.
We can go out as a family and experience a level of flexibility and freedom that we didn’t have before.
Looking Back and Moving Forward
If we hadn’t stopped at the PANTHERx booth that day, I truly believe we would still be mixing powder, worrying about dosages, and structuring our lives around medication schedules.
Instead, our daughter is thriving—and our family has found a new sense of balance.
A Message to Other Parents
If you’re just starting this journey, my advice is simple: Reach out. Ask questions. Explore your options.
And don’t be afraid to connect with PANTHERx. They will work with you to do what’s best for your child.
Because sometimes, the right support doesn’t just change a treatment—it changes everything.
– Heather, Ezra’s mom
“If we hadn’t stopped at the PANTHERx booth that day, I truly believe we would still be mixing powder, worrying about dosages, and structuring our lives around medication schedules. Instead, our daughter is thriving—and our family has found a new sense of balance." - Heather
PANTHERx Perspective
From the very first call, I could hear in Heather’s voice how much care, thought, and responsibility she carried every day. Her daughter’s therapy was working. Ezra had been seizure-free on the powder formulation of her new therapy, which is always the goal. But as Ezra grew, the process of mixing multiple packets for each dose became harder to manage. Achieving clinical effectiveness was becoming more difficult in real life.
The family wasn’t asking for a new therapy, just a more manageable way to continue. Transitioning to a liquid formulation for twice-daily dosing should have been straightforward. Instead, by the time the prescription arrived PANTHERx, it had already taken months, with delays and insurance barriers getting in the way. They were stuck in a place no family should be in: knowing there was another option that better fit the family’s needs, but being unable to access it.
We first connected with Heather at the American Epilepsy Society (AES) conference, where she asked for help navigating a situation that had already taken months. Our job was to ease that burden and keep things moving.
That started with speed and stability.
It was after 7 p.m. when we formally “met” the family, and they were both surprised and relieved to learn we could ship the medication overnight that very evening.
But the bigger challenge was still ahead. Ezra’s insurance required prior authorization, and approval would not come quickly.
For us, that meant one priority: no gap in therapy.
We set up a bridge shipment right away to ensure continuity of care, and from that point on, we coordinated shipments every two weeks while our reimbursement team worked to attain prior authorization. It took nearly six months to secure approval, and during that time, Ezra never missed a dose.
“They were stuck in a place no family should be in: knowing there was another option that better fit the family’s needs, but being unable to access it.” - Rae
Behind the scenes, it took continuous coordination across PANTHERx teams—reimbursement, pharmacy, and care coordination—plus ongoing communication with the family. Each touchpoint mattered. Not just to schedule delivery, but to make sure everything was working the way it needed to.
When approval finally came through, the transition to a 30-day supply was seamless. And the outcome had already been defined—consistent access, no interruptions, and a process the family could rely on.
What stayed with me most were the bright little moments along the way. The relief in the parents’ voices when they realized the medication would arrive the next day. The gratitude each time we called to coordinate the next delivery. The trust we built over months of consistent support. Each call got a little easier. Ezra’s family had less uncertainty and more confidence that things would happen when they needed to.
With the right support, the burden shifted away from the family, allowing them to focus on what mattered most.
– Rae Sosnowki, PANTHERx Patient Care Coordinator
Rae’s experience highlights what it takes to keep therapy moving behind the scenes. But ensuring access is only part of the equation. As PANTHERx pharmacist Louis Czaja explains, true success comes from helping therapy fit into the realities of a patient’s everyday life.
“It’s not just about the therapy—it’s about making sure the therapy actually works for the patient’s life.” - Louis Czaja, PANTHERx pharmacist
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