The story of Everlee Robles is one of strength, love,
and the unbreakable bond that holds a family together
in the face of uncertainty. From the moment she
entered the world, her life was anything but ordinary.
Born 8 weeks premature, Everlee spent the first weeks
of her life in the NICU, fighting for her every breath.
Her parents, Teresa and Victor, overwhelmed and
exhausted, watched their tiny baby hooked up to
machines and monitors as doctors worked tirelessly to
stabilize her. The days in the NICU were long, filled with
uncertainty, constant testing and clinicians coming and going. After a few weeks, Everlee was
finally stable enough to go home—only to return to the hospital just days later.
In the months that followed, Everlee began to show signs of something more than the typical
struggles premature babies face. Her mom, a determined and fierce new advocate, noticed
unusual clusters of seizure-type behavior and captured these events on video. She knew
something wasn’t right. This type of determination and advocacy led to Everlee being
transferred to a bigger hospital which offered more specialized care for her daughter.
"It’s incredibly scary seeing your baby like that, hooked up to all these wires and probes, doing
test after test," her mother recalls. But even in the darkest moments, they kept pushing forward,
never losing hope. After 45 days of negative test results, doctors finally gave the go ahead to
run a whole exome panel. The results finally revealed the condition affecting Everlee's health:
SCN2A-Related Epilepsy. This rare and often challenging-to-diagnose genetic disorder is known
for causing severe and frequent seizures, along with a range of other conditions such as
Autism, Global Developmental Delay, and Intellectual Disability.
The news was a shock, but it also brought some clarity to Everlee’s poor health. However, the challenges were far from over. In the months that followed, Everlee was in and out of the hospital as her parents, in close collaboration with her doctors, worked to find the right combination of medications to keep her stable. It was a difficult road, and the family felt the strain, both physically and emotionally. With COVID restrictions in place, Everlee’s siblings—who longed to be with their baby sister—couldn't visit her in the hospital. It was a heart-wrenching time for them, but they knew it was all in the hopes of bringing Everlee home, where she belonged.
Despite everything, Everlee has grown into a spirited and incredibly determined 2-year-old. Her
parents say she has brought an immeasurable amount of light and joy into their lives. "I am
blessed to be her mom," her mother shares. "She is our ray of sunshine, and we wouldn’t have
her any other way."
The journey has been anything but easy, but it
has also been transformative. Everlee’s
diagnosis has taught the Robles family that
they are far stronger than they ever imagined.
It has also connected them with an extended
family within the FamilieSCN2A Foundation, a
network of other families facing similar
challenges. Through this community, they
have found resources, support, and lifelong
connections that have helped them navigate
the complexities of an SCN2A-Related
Disorder.
What started as a terrifying and uncertain journey has led to a place of profound gratitude and
hope. "This diagnosis has opened our eyes to the strength we never knew we had," they say.
"Everlee shows us every day that there’s always more strength, more love, and more joy to be
found."
Everlee is a true testament to resilience, and her family is proof of the power of love, advocacy,
and a never-give-up spirit. As they look toward the future, they are filled with hope and
confidence that, together, they will face whatever comes their way.
Frequently Asked Questions
Drugs typically have to clear multiple clinical trial hurdles in order to support approval. The typical trial phases are 1, 2, and 3 with lower number being earlier trials and larger numbers being more advanced trials.
Phase 1 trials are typically in healthy volunteers and are evaluating initial safety, and dosing in humans. These trials help ensure that the drug is safe enough to be evaluated in patients and also are used to identify an appropriate dosing range for subsequent trials.
Phase 2 trials are typically used to provide proof of concept (that the drug has an efficacy signal, is providing a benefit to patients) and also tests safety in the patient population. These trials often are used to help design and power registrational phase 3 trials.
Phase 3 trials are often the trials used to support the approval of the agent and may be the final clinical hurdle a drug needs to pass in order to be approved by the FDA.
This is a designation granted by the FDA when a drug is being developed to treat a pediatric condition that is serious and life-threatening and occurs in under 200k people in the US.
This is a program used by the US government to incentivize drug development for pediatric rare diseases. If a drug is approved that has been granted the rare pediatric disease designation, then the developing company receives a voucher that grants priority review of a future drug (which can accelerate the developmental time of a drug by ~4 months; for example: if drug#1 is approved and had been granted the rare pediatric disease designation then said company would receive a priority review voucher that they could use on drug#2 ).
This is a designation granted by the FDA when a drug is being developed to treat a rare disease (occurs in under 200k people in the US).
This is a program used by the US government to incentivize drug development for rare diseases. Drugs awarded this designation received a number of incentives by the FDA including: 1. Market exclusivity for 7 years post approval, 2. A waiver of application of user-fees, and 3. A 50% tax credit for clinical testing expenses