Paris Hilton

Jimmy  Darts

Flavor Flav

SB Mowing

Kalina Silverman / @makebigtalk on Instagram

The Dogist

Patriotic Kenny Foundation

Pattie Gonia

Little Miss Flint

Carlos Eduardo Espina

Samuel Weidenhofer

Ben Saunders - Flawless Cleaning

Peter Bond

That Good News Girl

Ask Uncle Jack

Amy Jandrisevits

FowlMouthFarmer

Tess Bohne

Latonja and Taylor Richardson

Officer Richard Craig

<div><strong>Olá a todos. Esta é a nossa Mafaldinha. </strong>
</div>
<div>A Mafalda tem Síndrome CTNNB1, uma condição genética rara que afeta profundamente o desenvolvimento, a comunicação e a autonomia.
</div>
<div><br />
</div>
<div>Durante anos, famílias de todo o mundo uniram esforços para financiar a investigação e tornar possível algo que antes parecia impossível: um ensaio clínico de terapia génica para a Síndrome CTNNB1.
</div>
<div><br />
</div>
<div><strong>A grande novidade: a Mafaldinha foi selecionada</strong>
</div>
<div>Em dezembro de 2025 foram selecionadas as primeiras 4 crianças para participar no ensaio, após um processo rigoroso. E recebemos a notícia mais importante das nossas vidas: a Mafalda foi uma das selecionadas — a primeira criança portuguesa escolhida entre tantas crianças no mundo.
</div>
<div><br />
</div>
<div><strong>O que é o URBAGEN / ensaio GAIN-CTNNB1</strong>
</div>
<div>O URBAGEN é uma terapia génica experimental de substituição génica, baseada num vetor AAV9, administrada diretamente no cérebro por injeção intracerebroventricular (ICV), no âmbito do ensaio GAIN-CTNNB1.
</div>
<div><br />
</div>
<div>É um tratamento investigacional (ensaio clínico): existe esperança, mas também existem riscos e não há garantias — ainda assim, para nós, é a oportunidade pela qual lutámos durante anos.
</div>
<div><br />
</div>
<div><strong>Porque estamos a angariar fundos agora</strong>
</div>
<div>Remamos contra o tempo. A Mafalda vai ser intervencionada na Eslovénia e, para avançar, precisamos de suportar custas médicas orçamentadas em cerca de 165.000€, mais os custos de estadia e logística associados a vários meses fora do país.
</div>
<div><br />
</div>
<div><strong>Como será usado o dinheiro angariado</strong>
</div>
<ul>
<li>Despesas hospitalares e procedimentos clínicos: ~165.000€
</li>
<li>Estadia (alojamento, alimentação, transportes locais) durante a permanência na Eslovénia
</li>
<li>Viagens e logística (deslocações, necessidades práticas, etc.)
</li>
<li>Terapias intensivas
</li>
</ul>
<div><br />
</div>
<div><strong>Atualização importante</strong>: chegamos ao objetivo principal (175.000€), mas já conhecemos melhor os próximos passos após a terapia génica (terapias intensivas, 1 ano de terapias em Portugal e várias viagens de follow-up à Eslovénia). Por isso vamos manter a campanha aberta.
</div>
<div><br />
</div>
<div>O que vem a seguir (estimativas atuais):
</div>
<div><br />
</div>
<div>1) 2 meses de terapias intensivas na Eslovénia
</div>
<div>Ainda sem orçamento fechado, mas estimamos ~10.000 €.
</div>
<div><br />
</div>
<div>2) Terapias intensivas em Portugal por pelo menos 1 ano
</div>
<div>Estimativa atual: ~25.000 € ou mais, dependendo da intensidade necessária (fisioterapia, terapia ocupacional, terapia da fala/comunicação, etc.).
</div>
<div><br />
</div>
<div>3) Follow-up no 1.º ano após o regresso: 3 viagens à Eslovénia
</div>
<div>Voos + estadia para 3 pessoas. Estimativa: ~7.000 €.
</div>
<div><br />
</div>
<div>4) Follow-up nos anos seguintes: 1 viagem/ano até completar 5 anos de ensaio clínico
</div>
<div>Estimativa adicional total: ~9.000 €.
</div>
<div><br />
</div>
<div>Estes valores são estimativas (alguns ainda dependem de orçamentos e confirmações) e iremos atualizá-los assim que tivermos números finais.
</div>
<div><br />
</div>
<div>Iremos partilhando atualizações ao longo do processo.
</div>
<div><br />
</div>
<div><strong>Se puder ajudar com um donativo, mesmo pequeno, faz diferença.</strong>
</div>
<div>E se não puder, por favor partilhe esta campanha — cada partilha pode chegar à pessoa certa.
</div>
<div><br />
</div>
<div><strong>Obrigado do fundo do coração.</strong>
</div>
<div>Pela Mafaldinha — e para que ela possa ser a primeira de muitos.
</div>
<div><br />
</div>
<div>(Links úteis)
</div>
<div>• Instagram: <a href="https://www.instagram.com/mafaldinha.voavoa" target="_blank" rel="noreferrer noopener"><a href="https://www.instagram.com/mafaldinha.voavoa" target="_blank" class="" rel="nofollow noopener noreferrer">https://www.instagram.com/mafaldinha.voavoa</a></a>
</div>
<div>• Facebook: <a href="https://www.facebook.com/groups/mafaldinhavoavoa" target="_blank" rel="noreferrer noopener"><a href="https://www.facebook.com/groups/mafaldinhavoavoa" target="_blank" class="" rel="nofollow noopener noreferrer">https://www.facebook.com/groups/mafaldinhavoavoa</a></a>
</div>
<div>• Ensaio clínico (info oficial): <a href="https://ctnnb1-foundation.org/gene-therapy-gain-ctnnb1/" target="_blank" rel="noreferrer noopener"><a href="https://ctnnb1-foundation.org/gene-therapy-gain-ctnnb1/" target="_blank" class="" rel="nofollow noopener noreferrer">https://ctnnb1-foundation.org/gene-therapy-gain-ctnnb1/</a></a>
</div>
<div>• <a href="https://sicnoticias.pt/pais/2024-02-29-Sindrome-CTNNB1-doenca-rara-leva-pais-a-angariarem-fundos-para-investigacao-67b4dffb" target="_blank" rel="noreferrer noopener">Reportagem na SIC</a> (2024)
</div>
<div>• <a href="https://www.instagram.com/p/DSsEmJgCNxu/?hl=en" target="_blank" rel="noreferrer noopener">Entrevista Jornal Notícias</a>
</div>
<div>• <a href="https://tvi.iol.pt/noticias/video/somos-demasiado-raros-para-que-haja-algum-interesse-a-vida-de-mariana-mudou-quando-descobriu-que-a-filha-sofre-de-ctnnb1/694e59570cf229bd2f8d8620" target="_blank" rel="noreferrer noopener">Entrevista - Jornal da manhã TVI</a>
</div>
<div>• <a href="https://tvi.iol.pt/video/mafalda-e-a-primeira-crianca-diagnosticada-em-portugal-com-esta-sindrome-rara/69720c8c0cf22dd7c7f521a7" target="_blank" rel="noreferrer noopener">Reportagem TVI</a>
</div>
<div>• <a href="https://tvi.iol.pt/video/pai-revela-como-e-conviver-com-a-doenca-rara-da-filha-nos-temos-a-certeza-que-os-sintomas-vao-piorar-e-que-ela-vai-ser-dependente/69720e9a0cf22dd7c7f521ad" target="_blank" rel="noreferrer noopener">Entrevista Dois às 10 na TVI</a> - Parte 1
</div>
<div>• <a href="https://tvi.iol.pt/video/mae-pede-ajuda-para-a-filha-estamos-sem-dinheiro-para-o-resto/69720f0f0cf2d7f14f26f394" target="_blank" rel="noreferrer noopener">Entrevista Dois às 10 na TVI</a> - Parte 2
</div>
<div>• <a href="https://sicnoticias.pt/saude-e-bem-estar/doencas/2026-02-27-video-pais-de-crianca-com-doenca-rara-criam-campanha-para-mafalda-participar-em-tratamento-experimental-na-eslovenia-7a67b13f" target="_blank" rel="noreferrer noopener">Reportagem na SIC</a> (2026)
</div>
<div><br />
</div>
<div><br />
</div>
<div>Nota: Desde 19 de outubro de 2023, data em que esta campanha foi criada, já conseguimos angariar 5.149€. Este valor foi entregue à CTNNB1 Foundation para apoiar a investigação que está por detrás da terapia génica. Agora, com a Mafalda selecionada para o ensaio clínico, vamos ajustar o objetivo para cobrir as despesas desta etapa (hospital + estadia/logística).
</div>
<div><br />
</div>
<div>--------------------------------------------------------------------------
</div>
<div><br />
</div>
<div><strong>Hi everyone. This is our Mafaldinha. </strong>
</div>
<div>Mafalda has CTNNB1 syndrome, a rare genetic condition that profoundly affects development, communication, and independence.
</div>
<div><br />
</div>
<div>For years, families worldwide have worked together to help fund research and make something once unimaginable possible: a gene therapy clinical trial for CTNNB1 syndrome.
</div>
<div><br />
</div>
<div><strong>The big news: Mafaldinha has been selected</strong>
</div>
<div>In December 2025, the first 4 children were selected through a rigorous process. We then received the most important news of our lives: Mafalda was selected — the first Portuguese child chosen among so many children worldwide.
</div>
<div><br />
</div>
<div><strong>What is URBAGEN / the GAIN-CTNNB1 trial</strong>
</div>
<div>URBAGEN is an investigational AAV9-based gene replacement therapy, delivered directly into the brain via intracerebroventricular (ICV) injection, within the GAIN-CTNNB1 Phase I/II clinical trial.
</div>
<div><br />
</div>
<div>This is an investigational treatment: there is hope, but also risk and no guarantees. Still, for our family, this is the chance we’ve been fighting for.
</div>
<div><br />
</div>
<div><strong>Why we are fundraising now</strong>
</div>
<div>We are racing against time. Mafalda is expected to undergo the procedure in Slovenia, and to move forward we must cover approximately €165,000 in hospital/medical costs, plus living and logistics costs for several months abroad.
</div>
<div><br />
</div>
<div><strong>How the funds will be used</strong>
</div>
<ul>
<li>Hospital/medical costs: ~€165,000
</li>
<li>Living costs in Slovenia (accommodation, food, local transport)
</li>
<li>Travel &amp; logistics
</li>
<li>Intensive therapies
</li>
</ul>
<div>We will share updates along the way.
</div>
<div><br />
</div>
<div>Any donation helps — and if you can’t donate, please share.
</div>
<div><br />
</div>
<div><br />
</div>
<div>(Useful links)
</div>
<div>• Instagram: <a href="https://www.instagram.com/mafaldinha.voavoa" target="_blank" rel="noreferrer noopener"><a href="https://www.instagram.com/mafaldinha.voavoa" target="_blank" class="" rel="nofollow noopener noreferrer">https://www.instagram.com/mafaldinha.voavoa</a></a>
</div>
<div>• Facebook: <a href="https://www.facebook.com/groups/mafaldinhavoavoa" target="_blank" rel="noreferrer noopener"><a href="https://www.facebook.com/groups/mafaldinhavoavoa" target="_blank" class="" rel="nofollow noopener noreferrer">https://www.facebook.com/groups/mafaldinhavoavoa</a></a>
</div>
<div>• Clinical trial (official info): <a href="https://ctnnb1-foundation.org/gene-therapy-gain-ctnnb1/" target="_blank" rel="noreferrer noopener"><a href="https://ctnnb1-foundation.org/gene-therapy-gain-ctnnb1/" target="_blank" class="" rel="nofollow noopener noreferrer">https://ctnnb1-foundation.org/gene-therapy-gain-ctnnb1/</a></a>
</div>
<div><br />
</div>
<div><strong>Important update:</strong> we are getting close to the initial goal (€175,000), but we now have a clearer picture of the next steps after gene therapy (intensive therapies, one year of therapies in Portugal, and several follow-up trips to Slovenia). Therefore, we will keep the campaign open. Details in the Updates tab.
</div>

Terapia Génica para a cura da Síndrome CTNNB1

<div>When our beautiful little boy Lowie arrived into the world, little did we know of the challenges that would lie ahead for him.
</div>
<div><br />
</div>
<div>After a healthy pregnancy and straightforward delivery, he seemed very sleepy, had trouble feeding, slow weight gain, and later didn’t meet his motor milestones as expected. We became increasingly concerned and referred to a range of professionals. Lowie finally walked at 26 months, at which point we breathed a sigh of relief. Unfortunately, this was short lived, as it became increasingly apparent to us that something with Lowie’s development was atypical, leading us to pursue further medical investigations.
</div>
<div><br />
</div>
<div>We found out in November 2024, the day before Lowie’s third birthday, that he has CTNNB1 syndrome. CTNNB1 is a rare genetic condition which impacts the function of a protein in the brain called beta-catenin. It is a de novo mutation, which means it is a genetic alteration that appears for the first time in a family, meaning it wasn't inherited from either parent.
</div>
<div>It affects brain growth and development and therefore causes issues with Lowie’s movement and mobility, learning and cognitive development, sensory processing, speech, language and communication skills. Ultimately, life for Lowie could look very different to what we had hoped for him. 
</div>
<div><br />
</div>
<div>Lowie is known to various departments at Great Ormond Street Hospital for Children and he has been so brave throughout many appointments and investigations. Lowie also has speech and language therapy, occupational therapy, physiotherapy, music therapy, conductive education, with a number of these therapies privately funded, and is known to a variety of local health services. 
</div>
<div><br />
</div>
<div>After the diagnosis and an initial flurry of research and activity, including a contact with Špela Miroševič, President of the CTNNB1 Foundation, we felt a mixture of emotions; anger, anxiety, sadness, grief, despair, with a little hope sprinkled in, knowing that a Gene Replacement Therapy programme was in advanced stages. This all came at a difficult time, during the ill health of our beloved mum and grandmother, Marian, who recently passed in July 2025.
</div>
<div><br />
</div>
<div>In June 2025, our family went to Bilbao for the 3rd International CTNNB1 conference and we realised that hope for Lowie is closer than we expected.
</div>
<div><br />
</div>
<div>The CTNNB1 Foundation has submitted the clinical trial submission paperwork for Gene Replacement Therapy. The CTNNB1 Foundation was established on February 5, 2021, less than a year after the Foundation President’s son was diagnosed with CTNNB1 syndrome. CTNNB1 Foundation is a non-profit organisation whose central purpose is to improve the lives of children diagnosed with life-threatening and life-limiting rare genetic mutations. These, sometimes called orphan diseases, are simply not common enough to motivate 'for profit' pharmaceutical companies to investigate further. In the end, it is usually the parents who fight alone to develop treatment solutions. We are in awe of the work that the CTNNB1 Foundation have undertaken to make the prospect of Gene Replacement Therapy possible, and we want to contribute to these efforts in any way we can.
</div>
<div><br />
</div>
<div>We have decided to start this GoFund Me page as a way of supporting Lowie and other children to receive treatment. We are in the process of registering a UK charity, so that we can help with fundraising on a larger scale, make a financial contribution from the UK to the international efforts, raise awareness of CTNNB1 amongst the community and also support other UK families who have children with the condition.
</div>
<div><br />
</div>
<div>The foundation needs to raise around £445,000 of further funding in order for the clinical trial to begin later this year (2025). Much of the funding so far has come from the individual efforts of families, as well as some overseas government and corporate donations. After the first phase of the clinical trial, there will be subsequent phases, and if efficacy and safety is met, that is when the treatment will potentially be marketable, hence the clinical trials are the next step in this journey.
</div>
<div><br />
</div>
<div>Please give whatever you can and share as widely as you can. Send it to your friends, colleagues, neighbours, employers, and contact us if you have any ideas about how we can raise funds.
</div>
<div><br />
</div>
<div>We can’t do this alone, but, together, it may be possible. ❤️
</div>
<div><br />
</div>
<div><br />
</div>

Lovely Little Lowie- fundraising for CTNNB1 gene therapy

<div>Hi, my name is Naomi (Scott’s sister) and I’m fundraising for a memorial bench to be hopefully placed at Wigmore Valley Park on behalf of his wonderful wife and my family. 
</div>
<div>Scott was passionate about the park and it held a special place in his heart. Having a memorial bench will allow us to keep Scott’s hard work and dedication alive, as well as giving people a place to sit, reflect, reminisce while taking in the beauty of the wildlife around them.
</div>
<div>I’m still looking into the logistics of it all, but I’ve kindly been given the details and a part of the process that I would need to follow. Fundraising would go to building a bench, planning permission and fitting. Any money left over would go to a range of wildlife charities.
</div>
<div>Thank you so much,
</div>
<div>Naomi x
</div>

Scott Stalham

<strong><a href="https://www.instagram.com/charliesfight/" target="_blank"><br />Charlie's instagram page</a> ‌ <br /></strong><strong><a href="https://www.facebook.com/groups/265101867249571/" target="_blank">Charlie's army Fb page </a> <br /></strong><strong><a href="http://www.Charliesfight.org" target="_blank">www.Charliesfight.org</a> ‌<br /><br />help us to save our baby boy! </strong><strong><br />#charliesfight  #charliesarmy #parentalrights #raredisease #whatif<br /></strong><br />Our gorgeous little 11 month old boy Charlie has a devastating disease called mitochondrial depletion syndrome. Me and his Daddy Chris are both carriers of a faulty gene. (This was unknown to us until Charlie was 3 months old) <br /><img src="https://d2g8igdw686xgo.cloudfront.net/17867326_1489365216.1335_funddescription.jpg" alt="17867326_1489365216.1335_funddescription" />He was born on the  04/08/16 (4th of August) perfectly healthy but then he started to decline. We took him into hospital at 8 weeks old and none of us have been anywhere near home since. We have been with Charlie day in, day out &amp; watched our poor baby get weaker and weaker, he now needs a ventilator to breathe but we have never lost hope throughout all this time! After endlessly researching and speaking to Dr's all over the world <strong>we found hope</strong> in a medication that may help him and <strong>a Dr in America has accepted him in his hospital</strong>. It hasn't been tried on anyone with his gene before (he's only number 16 in the world ever reported) but it's had success with another mitochondrial depletion syndrome called TK2 which is similar - it's helping children to get their strength back and live longer! We strongly feel as his parents that <strong>Charlie should get a chance</strong> to try these medications. He literally has nothing to lose but potentially a healthier, happier life to gain. <br /><br />Charlies condition is caused by a disruption in the mitochondria, the part of the cell that provides energy to his muscles, kidneys and brain. There is a new treatment available which is a nucleoside bypass therapy, which could potentially <strong>repair Charlie's mtDNA</strong> and help it synthase again by giving him the naturally occurring compounds that his body isn't able to produce. It's oral medication so nothing invasive or harmful.<br /><br /><strong>We are running out of precious time with our baby</strong>, he can't have this treatment in the UK so our only hope now is to get Charlie to America  - this will obviously cost us a ridiculous amount of money, money we unfortunately don't have enough of. <br /><br /><strong>If we don't raise enough money then we wont be able to go to America for treatment</strong> <strong>and Charlie will die</strong><strong>!</strong> Great ormond street hospital have already taken us to court to try and gain permission to turn off our baby's ventilation which will result in Charlie's death :( They don't think it's in his best interests to go but we think it's in his best interests to have a chance to improve.<br /><img src="https://d2g8igdw686xgo.cloudfront.net/17867326_1489364525.1565_funddescription.jpg" alt="17867326_1489364525.1565_funddescription" /><strong>The court date is April 3rd and it will be held in the high Court in London.</strong><br /><br /><strong>We just CAN'T let our baby die when there is something that might help him! We won't give up on him</strong> because he has a rare disease. He deserves a chance and he deserves a life as much as anyone else. We understand that rare diseases don't get enough funding for research but why should that be a reason for a child to die?! He's here now and this could help our baby.<br /><br />If Charlie receives this treatment and it does work like the Dr in America thinks, <strong>it won't be just Charlie's life that has been saved, it will be many more children in the future, who are born with this horrible disease</strong> and it will open up other trials on other mitochondrial depletion syndrome's.<br /><br />We need to change things and show how determined parents can forge a path for other families encountering similar obstacles. <strong>We need to find treatments for incurable diseases. We need to give other people hope. We need to start saving lives.. hopefully starting with Charlie xxx</strong> <br /><br />#charliesfight #charliesarmy #savealife<br /><br /><img class="not-resizeable" src="https://d2g8igdw686xgo.cloudfront.net/17867326_1485817987.0053_funddescription.jpg" alt="17867326_1485817987.0053_funddescription" width="100%" /><br /><img class="not-resizeable" src="https://d2g8igdw686xgo.cloudfront.net/17867326_1485818064.2255_funddescription.jpg" alt="17867326_1485818064.2255_funddescription" width="100%" /><br /><img class="not-resizeable" src="https://d2g8igdw686xgo.cloudfront.net/17867326_1485818248.3024_funddescription.jpg" alt="17867326_1485818248.3024_funddescription" width="100%" />

Charlie Gard #charliesfight 

Jodie Lambert

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Non-charity fund

isChallengeFundraiser

challenge-fundraisers

Payment Identity Launch Verification - Production

New funds eligible - Posters v2

CAD Donation Upsell Audience

Braze Email Tester

NPO Profile Opted-Out

iOS App Version

hasKnownDonors

PYMK has donors

iOS v12.3.0 and above

Jodie Lambert

Jodie Lambert

Featured causes

Terapia Génica para a cura da Síndrome CTNNB1

Lovely Little Lowie- fundraising for CTNNB1 gene therapy

Scott Stalham

Charlie Gard #charliesfight

About me