Nella’s story, by her father
“Nella is living with GM1 — she’s not defined by it.”
How did you feel when your child received a diagnosis of GM1?
We always wanted a family, and the day Nella was born was the happiest day of our lives. She was a healthy, happy baby who walked early, spoke in full sentences, and was always engaging with the world around her.
Around three years old we noticed subtle changes. She started having difficulty speaking and walking, as if she was unlearning skills she had already mastered.
At four years old, she was diagnosed with GM1 gangliosidosis, type 2, a rare degenerative disease that destroys nerve cells in the brain and spinal cord. We were told to expect a slow and cruel decline, with no approved treatment and no cure. That she would gradually lose all of her abilities, and that her life would be shortened.
This was the moment our world crumbled. We were terrified. All the hopes and dreams we had for our daughter collapsed in a single sentence.
How has GM1 gangliosidosis affected your child?
For her first two years, Nella reached every milestone with ease. Then things began to change. We first noticed her right foot turning inwards when she walked, and around the same time, she began drooling more frequently. By age three, she had begun walking on her tiptoes and falling more often. Her speech lost clarity, and she was diagnosed with glue ear. She had her tonsils and adenoids removed, and grommets fitted.
In July 2021, Nella became the first child in the world to be enrolled in a small molecule clinical trial at Manchester’s Children’s Hospital, part of a larger investigational study that also included adult patients with late-onset Tay Sachs. This drug is a substrate reduction therapy designed to slow disease progression.
Within a month of her first dose, we began seeing remarkable changes. Nella walked with flatter feet. Her speech became clearer. The drooling stopped completely. Over the following months, her confidence grew, and her personality shone brighter than ever. Teachers and family noticed how much stronger she seemed. She completed her walk and peg tests more quickly and with greater control. Her doctors were amazed. There were no obvious side effects. For the first time since her diagnosis, the disease appeared to have stopped progressing.
Today, at ten years old, Nella is thriving. She attends school, makes friends, and takes part in weekly activities including horse riding, art, choir, and swimming. She is loving, funny, full of imagination and ambition. She talks about what she wants to be when she grows up. She is living with GM1, not defined by it.
How does GM1 impact your family?
GM1 completely changed our family’s trajectory. Although we were lucky to have a dedicated team of doctors, they could only tell us that Nella’s symptoms would be managed as best they could. There was nothing else they could offer.
We began searching, reading everything we could, reaching out to others, looking for any trial or treatment anywhere in the world that might offer hope. Our lives became consumed with research and advocating for our daughter’s future.
Enrolling Nella in an experimental clinical trial was a difficult decision. We knew it was experimental and there were risks. But we also knew the cost of doing nothing. What we witnessed was beyond what we had hoped for. She began improving and stabilizing.
What is the hardest part of being a GM1 caregiver?
The hardest part is the uncertainty and the constant fight for access to treatments that work. Despite everything we have seen and everything Nella’s clinicians and therapists have recorded, we remain in a fragile position.
The adult arm of Nella’s clinical trial was shut down in late 2024. Because it was the primary focus of the study, its closure triggered the automatic shutdown of the entire trial, including the pediatric arm where all seven children showed measurable benefit. It was marked a failure not because the drug did not work, but because the trial design could not capture what real-world benefit looked like.
There is no long-term guarantee, no regulatory approval, and no certainty that what is helping our daughter today will still be there tomorrow. Living with the constant threat that the treatment keeping your child stable could be taken away is exhausting and heartbreaking.
What do you wish people understood more about rare diseases?
I wish people understood that regulatory frameworks often cannot adapt to the realities of rare disease, where trials are small and progression varies. Therapies that work continue to be lost, not because they are ineffective, but because the system is not equipped to recognize when they are making a difference.
The fight is not over, but seeing Nella live her life to the fullest gives us the strength to keep advocating for her and for all the children whose stories are yet to be written.
We need a regulatory environment that can evaluate therapies based on the totality of evidence, real-world data, and the stories that emerge from small but meaningful samples. One that can measure what matters, even when the numbers are small. The system needs to work for rare disease families, balancing safety and access.
If we could tell people just one thing about GM1 gangliosidosis, what would it be?
GM1 gangliosidosis is a devastating disease that was taking our daughter away from us, piece by piece. But with the right treatment and support, children like Nella can not just stabilize, they can thrive.
She is living proof that hope exists, even in the face of the rarest diseases. Without innovative treatments, our story would look very different today.
Every child with GM1 deserves the chance that Nella has been given.
Why should people support the Cure GM1 Foundation and rare diseases?
Children like Nella show that progress is possible, but only if we continue fighting and funding research. The path to treatments for rare diseases is complex and often stalled by regulatory challenges and funding gaps.
The Cure GM1 Foundation works to ensure that promising therapies do not get lost in a system that was not designed for rare diseases. They advocate for families like ours and push for research that could save lives.
Your support could be the difference between a child like Nella having access to life-changing treatment or watching their child lose abilities that could have been preserved. It could also provide hope to other families fighting rare diseases.
Is there anything else you would like to add to your story?
Nella inspires us every day. She is proof that rare diseases can be challenged, that children can thrive with the right support, and that hope is worth fighting for.
Your support can help families like ours find hope and advance research toward a cure for GM1 gangliosidosis. To learn more about how you can help, please visit the Take Action page or Donate here.