A family affected by MPS IIIB Sanfillippo has joined singer Jesy Nelson for a poignant Mother’s Day campaign celebrating mothers who care for children with disabilities and life-limiting illnesses.
Emily and her young daughter Leni were among several families invited to take part in the special event, which brought together mothers navigating the challenges of rare diseases. The campaign featured interviews and a photoshoot designed to highlight both the struggles and the strength found within this community.
Speaking about the experience, Emily said the invitation was deeply meaningful.
“We were honoured to be invited to be a part of this really special Mother’s Day campaign with Jesy Nelson and other rare disease mummies and kiddies,” she said.
Emily shared how motherhood, when shaped by a rare diagnosis, can look very different from expectations but remains no less powerful.
“When you have a child with a rare disease motherhood looks different to what you may have imagined, but it’s still beautiful, joyful and extremely special. A mother’s love is also even more powerful when you’re fighting for your child.”
A mother’s love is also even more powerful when you’re fighting for your child
Her daughter Leni was diagnosed last October, at just two years old, with MPS IIIB Sanfilippo syndrome, a rare genetic disorder caused by a single gene defect. The condition prevents the body from producing an enzyme needed to break down certain sugars, leading to a build-up that damages the brain and body over time.
Since the diagnosis, Emily has been campaigning to raise awareness of the condition, hoping increased recognition could help accelerate research and open doors to potential treatments before the disease progresses too far.
The Mother’s Day campaign also provided something many rare disease families struggle to find: connection.
“The rare disease life can be incredibly isolating, so it was lovely to be introduced to other families who can genuinely understand and share our journeys,” Emily said.
The rare disease life can be incredibly isolating
Despite each child in the campaign having different conditions, she noted that many of the challenges families face are strikingly similar.
“All the children in the campaign had different rare diseases and different experiences, but the stories and the challenges they are facing are the same - lack of funding, lack of research, lack of treatments, and not included in the newborn screening.”
The stories and the challenges they are facing are the same
Jesy Nelson, who organised the event, has her own personal connection to rare disease. Her twin daughters were diagnosed with spinal muscular atrophy (SMA), a progressive genetic condition that causes muscle weakness due to damage to motor neurons.
The campaign’s interviews, now available online, explore the emotional journey families experience, from receiving a diagnosis to adjusting to an unexpected future, fighting for awareness, recognition and care, and striving to give their children the fullest lives possible.
Emily said the experience reinforced both the difficulties and the resilience within the rare disease community.
“We shouldn’t have to fight for our children to have a chance at life, but at least we are in this fight with such incredibly strong, determined and kind people.”
For Emily and families like hers, the campaign is not just about raising awareness - it is a call for change, greater support, and hope for a future where children like Leni have access to life-saving treatments in time.
The interviews with Jesy Nelson are available to view on YouTube.
Follow Leni’s story through her social media channels.
