TEAM
Meet Our Board Members
The GNB1 Advocacy Group Board is made up of parents of children living with the GNB1 mutation. This non-profit organization is truly dedicated to their cause, not only overseeing the organization but also actively participating in all programs. Their hands-on approach is a testament to their commitment and passion for making a difference in all of our children's lives.
Stephanie Normand
President
My name is Stephanie Normand. I am the President of the Board. I’ve been successful in business as a Director of Operations and a Contracts Administrator for many years. In 2020, I had a COVID wedding where only my husband and I were in person and everyone else was virtual! In 2021, I gave birth to a beautiful, healthy baby girl named Adalynn. By age 4 months, she still couldn’t hold her head up, so we knew something was wrong. Well, as a first-time mom, I didn’t know, but my husband and her pediatrician did. This sent me on a quest to help her, and to get answers. On her 17-month birthday we met with her Neuro-Geneticist and got the answer: GNB1. And this seemed like a non-answer! There’s no treatment, no cure? There are very few people worldwide?! To say my world was rocked would be an understatement. But, like always, I had a challenge, and I got started working on it. After joining the GNB1 Facebook page, I discovered that there were researchers interested in working to better understand and help kids like my daughter- but they needed the parents to get organized. Say no more- organization is what I do! However, I knew I couldn’t do this alone. Within a couple of weeks, I had met Carolina, Kadi, Lisa, and Yaneiry. Finding my tribe of determined, powerful Moms who would tackle this head on with me has helped in so many ways. We each have our specialties, and we lift each other up on the toughest days. My daughter is one of the more severe cases- she requires complete care, can’t speak or do anything for herself. But she loves to laugh, and try new foods, loves to be read to, and I’m hopeful. I’m proud of the work we are doing in the GNB1 Advocacy Group, look forward to all of the things we will do together, and can’t wait to meet all of the people we will add to our team, as well as all of the families in our group. I am inspired by the discoveries and advancements being made in science every day. And I will always continue to pray that we will find a cure in my daughter’s lifetime.
Lisa-Marie Mac Lean
Secretary
Lisa is originally from Trinidad and Tobago and resides in Austin, Texas. She and her husband, Sean, have a 14-year-old daughter and an 10-year-old son, Isaac, who was diagnosed with GNB1 in 2019. Isaac's diagnosis came after years of uncertainty and countless medical appointments, as Lisa and her family sought answers for why he was not meeting developmental milestones as a baby. After three years, whole exome sequencing finally provided clarity, though doctors described the rare genetic disorder as "the lottery of diagnoses," leaving the family with more questions than answers due to the limited research available. Feeling lost and overwhelmed, Lisa found solace and community in a Facebook group dedicated to parents facing similar challenges with GNB1. This connection provided her with much-needed support and hope. Motivated by her own experiences, Lisa joined the board of the GNB1 Advocacy Group, where she aims to actively contribute to the organization's mission of offering comprehensive resources, advocacy, research, and community support for families affected by GNB1. Lisa is a licensed Marriage and Family Therapist Associate in the state of Texas and is working towards specializing in supporting families of children with disabilities. Through her work with the GNB1 Advocacy Group, she is committed to supporting parents and caregivers on this unique journey.
Kadiatou Diallo
Vice President and Scientific Advisory Chair
Kadiatou is a dedicated mother with a career in public health and research. Kadiatou currently lives in the United Arab Emirates with her husband, son, and daughter. Her son was diagnosed with GNB1 in 2021. He was 22 months old. As a first-time mom, Kadiatou patiently waited for her son to reach his developmental milestones. She believed, as her family and friends did, that Noah was just a bit delayed since he was born at 37 weeks and that he was growing at his own pace. Genome sequencing later confirmed that Noah would indeed grow at his own pace, as a child with a rare genetic mutation causing severe developmental delays. As many parents with children of rare conditions, Kadiatou and her husband searched for more information on GNB1 and answers to the many questions they had. This connected her with researchers and parents working towards better understanding this newly discovered mutation. Kadiatou decided to utilize her research and public health experience to support researchers in learning more about GNB1 and eventually exploring treatment options. Kadiatou is also passionate about advocating for children and adults with GNB1. By joining the GNB1 Advocacy Group, she has found her community of caring and committed parents and family members. She is hopeful that her son will be well supported in the future. Kadiatou holds a master’s degree in public health, with a focus on global health. She has held positions as a Data Analyst at Johns Hopkins University and New York University Langone Health.
If you would like to help us on our mission to unite families and raise awareness of GNB1. Here are some positions that are still open!
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Fundraising Coordinators
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Treasurer
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Social Media Coordinators
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Community Outreach Coordinators
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Country Representatives
Whether you have a little time or a lot, every effort counts in creating positive change. Reach out today and be part of something amazing! Please comment below or email me at secretary@gnb1advocacy.org.
Agnieszka Bielach
Research Chair
My name is Agnieszka Bielach. I am Polish by origin, now calling Belgium home, where I live with my husband and our two daughters. In 2020, I became a mother of twin girls—an experience that transformed my life in ways I could never have imagined. In 2024, at four years old, one of my daughters, Paulina, was diagnosed with GNB1. Her diagnosis arrived like a shockwave. Until then, we had believed her developmental delays were linked to prematurity and that time alone would help her catch up. Instead, Paulina showed me a different path: one where progress is not taken for granted, where every new skill is the result of immense effort, resilience, and countless hours of practice. She has become my greatest teacher—of patience, humility, and what it means to celebrate small, extraordinary victories. This chapter of our lives brought me back to the scientific world that has always been close to my heart. I hold a PhD in Biotechnology and spent several years in academic research before moving into industry, where I have worked for the past nine years in regulatory affairs and advocacy. Following Paulina’s diagnosis, I returned to reading scientific publications, meeting researchers, and reconnecting with the deep curiosity that first led me to science. Driven by both my professional background and my personal journey, I joined the GNB1 Advocacy Group, first as a volunteer supporting its founder, Kadiatou, and later becoming a member of its Board. Advocacy is not only my work—it is my way of giving hope, building community, and pushing research forward for families like mine. My passions lie in developmental biology, cell biology, genetics, and neurobiology—but above all, in ensuring that children like Paulina have access to the understanding, care, and opportunities they deserve. My journey is shaped by science, but also by love—a commitment to transforming our challenges into action,knowledge, and connection.
Meet Our Country Representatives
Our Country Representatives are here to support families throughout their journey. They can answer questions, provide guidance, and help you connect with other families in your region. We encourage you to reach out to your representative whenever you need information, support, or a local connection.
Valentina Leško
Crotia Representative
Arnaud Jean
France Representative
Završila sam turističku školu, ali cijeli život sam željela raditi u medicini. Budući da tu želju nisam mogla ostvariti zbog zdravstvenih problema, zaposlila sam se kao osobna asistentica za osobe s cerebralnom paralizom i mišićnom distrofijom. Voljela sam taj posao. Kada je došlo vrijeme da suprug i ja osnujemo obitelj, morala sam ga promijeniti.
Oduvijek sam voljela djecu i željela sam sam otvoriti obrt te se baviti čuvanjem djece, u međuvremenu se dogodio Covid-19.
U tom razdoblju saznala sam da sam trudna. Morala sam se što više odmarati kako bih sačuvala trudnoću i tako su svi ostali planovi nastavili stagnirati.
Premotat ću 5 godina u budućnost, imam prekrasnu 4-godišnju djevojčicu koja ima GNB1 mutaciju, kombiniranu imunodeficijenciju i dosta drugih dijagnoza, od kojih su neke povezane s prijevremenim porodom.
Ima psihosomatsko razvojno kašnjenje, ne drži glavu stalno gore, ne okreće se i nije verbalna, ali unatoč svemu, jako je sretno dijete.
Kad smo s dvije godine saznali da naše dijete ima GNB1 mutaciju, mislili smo da ćemo dobiti odgovore na sva naša pitanja. Stvarnost je bila drugačija, pojavila su se mnoga nova pitanja, bez odgovora.
Pokrenula sam vlastitu potragu, naišla na web stranicu GNB1 Foundation i pridružila se Facebook grupi. Konačno smo pronašli mjesto gdje pripadamo, grupu ljudi koji traže iste odgovore, s kojima dijelimo sve uspone i padove. Na isti način želimo pomoći drugima da se osjećaju prihvaćeno, da pruže ruku, da znaju da nisu sami i da zajedno možemo puno učiniti.
Kontakt informacije:
Email: leskovalentina@gmail.com
Nous sommes Arnaud et Marie, les parents de notre petite combattante, Louise. Elle aura bientôt 5 ans et fait courageusement des progrès chaque jour. Nous sommes prêts à partager notre expérience, à vous soutenir et à vous aider du mieux que nous pouvons, ici en France.
Coordonnées:
Email: arnaud.vors@gmail.com
Téléphone : 06 26 32 53 63
Soy padre de dos hijos: Dunia, que tiene GNB1 y 9 años, y Ekain, su hermano pequeño "mayor", de 6 años. También soy vicepresidente de la Asociación GNB1 España, que conecta a familias, las apoya y promueve la investigación para mejorar la calidad de vida de nuestros hij@s. Junto con mi esposa, Tanit, organizamos eventos en Barcelona y Menorca para recaudar fondos para la investigación en terapia génica en el VHIR.
Email: ecuadragascon@gmail.com
Phone number: +34 669231673
Enrique Cuadra Gascón
Spain Representative
GNB1 parent and Vicepresident of Asociación GNB1 España
Mariana Pacheco Moreira
Brazil Representative
Mariana Pacheco Moreira é pós-graduanda em Neurociência e Comportamento pela Pontifícia Universidade Católica do Rio Grande do Sul (PUCRS). Possui mais de 10 anos de experiência na área da educação e do desenvolvimento infantil, atuando com crianças no Brasil, no México e nos Estados Unidos.
Durante sua formação em Neurociência, realiza atividades práticas com uma criança com a síndrome GNB1, aprofundando seus conhecimentos sobre neurodesenvolvimento infantil e cuidado centrado na família.
Graduada em Rádio e TV, Mariana também produz conteúdos audiovisuais nas redes sociais para tornar a neurociência mais acessível às famílias, oferecendo informações baseadas em evidências de forma prática, acolhedora e de fácil compreensão.
Como Representante Brasileira das Famílias GNB1, dedica-se a fortalecer a conexão entre famílias, profissionais da saúde, pesquisadores e organizações, promovendo educação, conscientização e colaboração em prol da comunidade GNB1.
Telefone/WhatsApp: (279)289-1429
E-mail: pachecomariana59@gmail.com
Instagram: @tiamariefriends
https://www.instagram.com/tiamariefriends?igsh=NTc4MTIwNjQ2YQ%3D%3D&utm_source=qr
YouTube:Tia Mari e Friends
https://youtube.com/@tiamariefriends?si=_7zPRBBcXv8Crf4k
LinkedIn: Mariana Pacheco Moreira