Cure GABA-A Variants

Meet Zoya! She is our 5-year-old girl fighting every day to beat GABRG2!

We have received the news that a life-changing mRNA therapy is ready, sitting in the lab, waiting to be tested. The only thing that is lacking is funding. $40,000 of the $380,000 pre-clinical trial budget has been raised.

We have a drug.

We have the biotech.

We have the mice.

We just need the funding.

Zoya was diagnosed with this ultra-rare genetic disorder the day after her first birthday. As you can imagine, our hearts were shattered. The doctor on the phone couldn't tell us anything except this was a rare disorder with no cure and they didn't have any information about it.

At one point, we were told there were less than 60 known cases in the world.

Zoya’s symptoms include Nystagmus, Hypotonia, Developmental Delays, gross motor delays, and she is non-verbal. Zoya struggled to hit milestones from her first weeks. She started physical therapy at 5 months of age and has received it multiple times per week since then. In addition, she regularly receives occupational and speech therapy, among others.

Currently, her therapists are building her strength to help her work towards standing unsupported. She recently started army crawling her way around the living room, which is a huge milestone!

Despite all this, she wakes up every morning with the biggest smile on her face! Her big sister is by far her most favorite person and vice versa. She loves to give the tightest bear hugs to anyone that needs it and won't let go until you're ready. She loves music and dancing. She lights up everyone's world that meets her. And she is by far the strongest and most determined person we know. She is an inspiration for everyone in our family.

We were introduced to CURE GABA-A in late 2024 and were grateful by the support and knowledge they provided us. The determination of all families to find a cure for our kids is inspiring. The work they are doing at CURE GABA-A has given us hope!

Your donations go towards the non-profit organization, Cure GABA-A Variants, to fund the pre-clinical trials. Any amount you can donate will help Zoya and all the other families fund a cure that could change our lives!

Your donation is tax deductible.

For the first time since our daughter Joni-Lou was born, we’ve been given hope that there could be a treatment for her rare disease. Joni-Lou has a GABRG2 genetic disorder, a rare mutation that causes seizures and affects her development, muscle tone, feeding, movement, communication — nearly every part of her daily life. Since infancy, she has worked incredibly hard for every milestone. She is gentle, determined, and full of quiet strength, but she also faces challenges that no child should ever have to face.

Until now, there have been no available treatments for GABRG2 disorders. Families like ours were told to focus on supportive care, therapy, and making our children as comfortable as possible.

But now, for the very first time, there is a gene therapy designed specifically for GABRG2 — and a preclinical trial is ready to begin.

To reach this next stage, we need help funding the research that could change Joni-Lou’s future. This therapy has the potential to improve her quality of life in ways we’ve only dreamed of. It could mean that one day she walks and talks, and finds the words to say “thank you” all on her own. This possibility is the greatest hope we’ve ever been given.

This phase will test the safety and effectiveness of the therapy tailored to the GABRG2 gene, bringing us one step closer to a treatment that could help Joni-Lou and others with similar variants. Every donation — truly, every single one — brings us closer to making this therapy a reality.

We are profoundly grateful to Cure GABA-A Variants for leading this groundbreaking research and believing in what is possible for children like Joni-Lou. Their dedication in the rare disease space is the reason this treatment is even within reach. To read the official press release about the therapy, please visit curegabaa

From the bottom of our hearts, thank you for considering supporting our family. Your generosity gives our daughter real hope — something we will never take for granted.

With love and gratitude,

Amy and Jordan

When you become a parent, you realise that all that matters is a healthy child.

Our little boy, Adaas is 8 years old today, but he can’t speak or eat on his own. He has a rare GABRB3 genetic mutation, which causes severe epilepsy and developmental challenges. He’ll need care and support for the rest of his life — yet he faces every day with an amazing smile.

Research into GABA-A related disorders is now at a critical stage. With enough funding, scientists could unlock treatments that may transform the lives of children like ours — and give families hope where there has been none.

Please, if you can, support curegabaa.org.

Every donation, big or small, helps bring hope to families who want nothing more than a healthy future for their child.

From the bottom of our hearts — thank you for caring.

At 3 months old, Scarlet had her first seizure. This took us down a very long road of tests, finally resulting in genetic testing. We found that she has a de novo GABRA1 gene mutation with gain of function.

She’s been on countless epilepsy medications, and we’re still working on finding the right combo. She is currently on a trial medication called Ravicti, which is doing well for her.

We’re also dealing with her chorea (unintentional movements), which poses a large problem in daily activities.

In addition to that and her global developmental delay, she has CVI or cortical vision impairment. So we’re not sure how her brain interprets what she sees. Your guess is as good as ours!

She’s currently 3.5 years old and we are still working on sitting independently. She does not reach for anything or make much eye contact. Lots to work on in PT, OT, speech, and feeding therapy.

This is where things get exciting!

There is a gene therapy available for her!!! The drug is ready, the mice are ready!

We need funds for clinical trials! So that one day my little girl can walk, talk, run, and play. Please! If you’re able to give anything, we would deeply appreciate it!

Hola, soy Eva Aran, tengo a una pequeña con una mutación en el gen GABRB1 que le produce un retraso en el neurodesarrollo y una epilepsia de díficil contro. Estoy recaudando fondos para apoyar a la Fundación Cure GABA-A Variants, una organización increíble dedicada a mejorar la vida de las personas afectadas por las variantes del GABA-A mediante la investigación, la concienciación y el apoyo. Su labor es vital, y cada donación contribuye a impulsar su misión.

Sus contribuciones tendrán un impacto directo en la comunidad de maneras significativas, como:

Financiar investigaciones pioneras para comprender mejor las variantes del GABA-A y sus efectos.

Brindar recursos y apoyo a las familias afectadas por estas afecciones, ayudándolas a afrontar sus desafíos.

Unámonos para apoyar esta labor esencial. Su generosidad puede ayudar a traer esperanza y cambio. Mil Gracias por el apoyo!!

¡Hola a todos! Al celebrar un año más de vida, les escribo con una petición especial. Este año, en lugar de regalos de cumpleaños, solicito donaciones para apoyar a Cure GABA-A Variants. Esta increíble organización se dedica a impulsar la investigación y el tratamiento de las personas afectadas por las variantes de GABA-A, y creo que su trabajo es vital para mejorar vidas.

Sus contribuciones ayudarán a financiar:

Iniciativas de investigación destinadas a descubrir nuevas terapias y tratamientos.

Apoyar programas que brindan recursos y orientación a las familias que enfrentan estos desafíos.

Con su ayuda, juntos podemos marcar una gran diferencia. ¡Gracias por considerar esta forma tan significativa de celebrar mi cumpleaños y apoyar a quienes lo necesitan!

Giving Tuesday — We Need You.

Our CURE GABA-A families are working together to fund the preclinical trial for a targeted mRNA therapy that could truly change our children’s lives. This is the most promising path we have ever had — and we are closer than ever.

We’ve already raised $92,728.85, and with Giving Tuesday here, we have a real chance to get this across the finish line.

But we can only do it together.

If you’re able to give anything — even $10 — it makes a real difference. Truly.

And if you can’t give today, simply sharing the campaign with someone who might be able to helps more than you know.

This is our moment to push forward the science our children urgently need.

Please join us.

This photo was taken the day we got my baby Eleanor’s diagnosis.

My heart shattered not just for her, but for my son, for my husband, and for the life we thought we’d have.

We were told there was no treatment. But I refused to accept that.

We found a small biotech team who believed in Eleanor and worked day and night and together, we created what we hope is her cure. We created an FDA APPROVED DRUG called “Eleanor”

Our family has poured everything into this our savings, our time, our tears. We fought through 2.5 years of pain, relentless advocacy, and sleepless nights, sleeping 3–4 hours a night, praying for answers.

Eleanor was originally diagnosed with two GABAAR disorders and there was NO INFORMATION ONLINE so I started a non profit called CURE GABA-A. Later we found out that she had Rett Syndrome. I couldn’t control her diagnosis. But I could control how I responded. Even though CURE GABA-A wouldn’t benefit Eleanor we continued the fight for the other families with children who had GABAAR mutations.

Today, we’ve found over 300 families across the globe. And:

We have a drug.

We have the biotech.

We have the mice.

But now they need money.

CURE GABA-A is closer than ever to testing the drug that could change everything for these families.

From the very first day, every dollar our friends gave out of love for our family, we turned around and paid it forward.

We donated all of it to help other families.

In fact, our family personally funded the nonprofit through its first year.

Because this was never just about our daughter, it’s about every child with a GABAAR disorder.

Together, we’re building a future where no parent has to hear “there’s nothing you can do”