v-ATPase Alliance

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Press releases

Hidden in Plain Sight: Rare Epilepsy Stories You Should Know

BELFAST, ME – [December, 2025] – Some of the rarest genetic conditions are linked to the vacuolar‑ATPase (v‑ATPase), a protein complex essential for cell health. Harmful changes in its 23 subunit genes can disrupt processes such as waste removal, neurotransmitter release, and protein trafficking, leading to seizures, developmental delays, and other neurological complications. Because these symptoms often resemble more common disorders, families face misdiagnosis, delayed treatment, and limited recognition in clinical and policy settings.

To confront these challenges, Rare Awareness Radio, in collaboration with the non-profit v-ATPase Alliance, is launching a six‑part podcast series featuring founders, researchers, and caregivers. The series seeks to raise awareness, accelerate research, and build understanding across the epilepsy and rare disease landscape.

Rooted in the Alliance’s mission to build community and drive therapeutic development, each episode explores a different stage of the v-ATPase journey—from the uncertainty of early diagnosis to the promise of scientific innovation.

Hosted by Richard Juknavorian, the series offers in‑depth conversations that highlight both the personal and systemic dimensions of rare disease.

“Storytelling is one of the most powerful tools we have in public health,” Richard shares. “When we bring forward the voices of caregivers, scientists, and families living with rare disease, we do more than raise awareness—we create momentum for equity, research, and action.”

Featured guests include:

· Kristin Klenzendorf Anderson, founding director, caregiver, advocate

· Ana Rita Moreira, founding director, caregiver

· Dr. Luis Miguel Oliveira, executive director, caregiver, researcher

· Beth McKenzie and Dave Robertson, caregivers

· Dr. Bruce Morimoto, drug development strategist

· Dr. Angel Aledo‑Serrano, neurologist and epileptologist

“For ultra‑rare diseases, every family’s story and every piece of data is precious, but our time is not unlimited. This series is a vital act of collaboration, bringing the urgency of the patient journey into conversation with the promise of molecular science. It delivers the essential message: we are not waiting; we are building scientific solutions ourselves. The hope this series provides is rooted in action.”

— Ana Rita Moreira, Founding Director, v-ATPase Alliance

The first episode premieres December 8, 2025.

Rare Awareness Radio is available on SoundCloud, YouTube, Audible, iHeartRadio, Apple Podcasts, and Amazon Music. Episode links can be found at rareawarenessradio.org.

Media Contacts

For v-ATPase Alliance
Ana Rita Moreira
Founding Director
vatpasealliance.org

For Rare Awareness Radio / Principled Research Resources
Scott Milligan, Managing Director

info@principledresources.com
rareawarenessradio.org

principledresources.com

Ebensburg Family Hosts Community Day to Fund Rare Disease Research, Celebrate Daughter's Milestone

EBENSBURG, PA – [August 4, 2025] – The Ebensburg community is invited to a special "Community Day" event on Saturday, August 9th, at Hoss’s Steak & Sea House in Ebensburg, aimed at raising vital funds for the v-ATPase Alliance. Organized by local parents Kayla and Dylan McCall, whose daughter Trinity is affected by an ultra-rare v-ATPase genetic disorder. The event also celebrates Trinity's starting kindergarten.

The v-ATPase Alliance provides crucial support and resources for families navigating this challenging condition, striving to advance treatments and find cures. "Without the v-ATPase Alliance, our family and many like ours would go without the support we need to make headway on treatments for the ultra-rare disorder our children are affected with, but also, we’d be alone in the struggles associated with this ultra-rare genetic disorder," says Kayla McCall. "We have been truly blessed by this Alliance and the resources it strives to obtain for us all."

The Community Day is a unique opportunity for the public to contribute to a critical cause while enjoying a meal. Hoss’s in Ebensburg has generously partnered with the McCall family, pledging to donate 20% of their profits from the day to the v-ATPase Alliance.

The McCalls are spearheading efforts to raise $1,000 at this event. These funds will directly support the collection of a biosample for Trinity, a crucial step in the Alliance's broader #20for20 Campaign, which aims to collect 20 biosamples requiring $20,000 to significantly advance research into v-ATPase disorders.

"This Community Day is about more than just fundraising; it’s about bringing our community together to support a cause that impacts families directly here in Ebensburg.", adds Dylan McCall.

Community members wishing to support the event can obtain tickets from Dylan or Kayla McCall. Participants simply pay for their meal at Hoss's, present the ticket, and the restaurant will ensure the donation is made.

Event Details:

What: Community Day Fundraiser for Trinity and all v-ATPase-related kids around the world.
When: Saturday, August 9th, 11am - 8:30pm
Where: Hoss’s Steak & Sea House: 4343 Admiral Peary Hwy Ebensburg PA 15931
How to Participate: Get a free ticket from Kayla or Dylan McCall, pay for your meal, and present the ticket at Hoss's.

“This will be our first restaurant fundraiser, and we are honored to be supporting the McCall family. We are so incredibly inspired by their story, their strength, and their will to turn their personal journey into a beacon of hope for our entire community. Their event is a powerful reminder that every family's fight can be a catalyst for change.”, said Ana Rita Moreira, one of the co-founders of the Alliance and a mom of an affected child as well.

About the McCall Family:

Kayla and Dylan McCall are the parents of Trinity, a 5 year old lovely girl with blue eyes who will steal your heart. She is sweet, charming, and also affected by an ultra-rare mutation in the gene ATP6V0c, a condition with no name, no expert, and no treatment available. Trinity is 1 of only 27 known ATP6V0c cases in the world, and her journey is a powerful testament to her strength and her family's love.

Her daily life includes managing intractable mixed-type epilepsy, a sensory processing disorder, and global developmental delays. Trinity graduates to kindergarten this year.

About Hoss’s Steak & Sea House

Since its founding, Hoss’s has been dedicated to giving back to the communities it serves. With a generous and long-standing commitment to local causes, the company has donated over $6 million through its Community Fundraisers, a program designed to be a simple and effective way for organizations to raise money. Over the claim: Putting the “FUN” back into “FUNdraising”, the process is straightforward: groups invite their supporters to dine at Hoss’s on a designated day, and the restaurant donates a significant percentage of the total sales back to the organization. This model allows community groups to earn funds with no selling, no hassle, and all the support they need from the Hoss's team. It’s an easy, well-managed, and impactful way for Hoss’s to help local causes thrive.

About the v-ATPase Alliance:

The v-ATPase Alliance is dedicated to supporting families affected by ultra-rare v-ATPase genetic disorders, facilitating research, and advocating for treatments and cures.

The Alliance started in November 2023 with three parents who refused to accept the status quo. They transformed their personal journeys into a global mission to bring together families, researchers, and clinicians in the fight against these ultra-rare v-ATPase-related conditions.

Now, they have grown into a powerful global community of 79 families across +20 countries, with a growing network of researchers and partners. Together, they are turning shared hope into meaningful action, driving research forward one day at a time.

v-ATPase Alliance is a Registered 501(C)(3) Nonprofit organization, Tax ID Number - EIN: 93-4759423.

Media Contact: Ana Rita Moreira - contact available upon request.

Website: www.vatpasealliance.org

Social Media:

Facebook Page: https://www.facebook.com/vatpasealliance

Instagram: https://www.instagram.com/vatpasealliance

Twitter: https://twitter.com/vatpasealliance

LinkedIN: https://www.linkedin.com/company/vatpasealliance/

Youtube: https://www.youtube.com/@vatpasealliance

BSky: https://bsky.app/profile/vatpasealliance.org

Linkbio: https://linkin.bio/vatpasealliance

Current fundraiser: #20for20: https://donorbox.org/20-for-20-786238

Local contact on the day of the event: Kayla McCall - contact available upon request.

v-ATPase Alliance na Campanha Nacional "Participar para Transformar" com o Apoio da ACAD e Roche

LISBOA, PORTUGAL – [Julho 14, 2025] – É com grande entusiasmo que a v-ATPase Alliance, em conjunto com um grupo de Associações de Doentes, anuncia o lançamento da campanha de advocacy "Participar para Transformar". Esta iniciativa visa mobilizar a sociedade civil e a comunidade de saúde para a importância crítica da participação pública efetiva e significativa em saúde no panorama nacional.

A campanha é o resultado de um trabalho colaborativo intenso e plurimensal, desenvolvido no âmbito do Programa de Capacitação da 6.ª edição da Academia para a Capacitação das Associações de Doentes (ACAD), um projeto de excelência promovido pela Escola Nacional de Saúde Pública (ENSP NOVA) com o apoio da Roche.

Foco e Objetivos da Campanha

A "Participar para Transformar" será lançada exclusivamente na rede social Instagram no próximo dia 8 de setembro e estender-se-á até 28 de outubro.

O seu propósito fundamental é:

Consciencializar a sociedade civil para a importância da participação pública no sistema de saúde.
Dar a conhecer boas práticas e experiências ilustrativas do envolvimento dos cidadãos e das Associações de Doentes.
Identificar os desafios estruturais que, atualmente, comprometem uma participação plena e significativa dos utentes e seus representantes.

"Enquanto associação que representa pacientes com doenças ultra-raras, muitas delas de diagnóstico recente e complexo, sabemos que a nossa voz é fundamental para moldar a investigação, o acesso a terapias e a qualidade dos cuidados," afirma Ana Rita Moreira, representante da v-ATPase Alliance. "Esta campanha não é apenas sobre falar, é sobre garantir que a participação do cidadão e do doente tem um impacto real e transformador nas políticas de saúde. Convidamos todas as associações a juntarem-se a este movimento vital."

Como Acompanhar e Participar

A campanha irá decorrer no perfil oficial @participarparatransformar no Instagram https://www.instagram.com/participarparatransformar/

Todas as Associações de Doentes e advocates que se identifiquem com os objetivos da campanha estão convidados a juntar a sua voz ao movimento.

Para tal, as organizações podem:

Envolver-se ativamente na divulgação: Repartilhando as publicações nas stories, publicando diretamente no seu feed e interagindo com os conteúdos para ampliar o alcance da mensagem.
Contribuir com Conteúdos: A campanha contará com testemunhos (vídeo, áudio ou texto) que incidem sobre o papel das Associações de Doentes nos processos de participação em saúde. A colaboração na criação destes conteúdos é essencial para o sucesso da iniciativa.

As Associações interessadas em participar ou em colaborar na criação de testemunhos devem manifestar o seu interesse por e-mail, até ao dia 18 de agosto, para que sejam incluídas nas próximas comunicações e recebam os materiais e as modalidades de participação.

Acreditamos que uma campanha verdadeiramente transformadora só é possível com o envolvimento plural e ativo das organizações que, todos os dias, dão rosto e voz às pessoas com doença em Portugal.

Sobre a v-ATPase Alliance:

A v-ATPase Alliance é uma organização dedicada a apoiar famílias e a coordenar investigação sobre as doenças ultra-raras causadas por mutações nos genes do complexo v-ATPase, como as encefalopatias epilépticas e do desenvolvimento. Trabalha ativamente na consciencialização e no financiamento e coordenação internacional de investigação para focar e acelerar o desenvolvimento de tratamentos para estas doenças.