Turning a rare diagnosis into global action

A diagnosis changed everything for Greg and Martine Nafte. It also set them on a path that could determine far more than their own son’s future. 

Levi has an exceptionally rare genetic condition, SLC1A4 deficiency. Only a small number of cases are known worldwide. 

Levi’s medical journey began early. He had his first seizure and hospital admission at just eight months old. Multiple seizures and repeated hospital stays followed. At the same time, he didn’t meet key developmental milestones. For more than three years, the family hoped Levi’s challenges might resolve. The diagnosis in April last year removed that possibility. 

“With a genetic diagnosis, his problems become very real,” Greg says. “We had to start to accept that we have a child with severe special needs and our family life will never be ‘normal’.” 

Martine, a physiotherapist, says, “I had always known deep in my gut that there was something not right.” When the diagnosis came, it brought both grief and relief. “I am still grieving. The grieving will never stop,” she says. “But knowing that there’s nothing more than what we are doing for Levi brought a sense of relief.” 

Before they received clarity, Levi had undergone extensive testing. This included blood tests, a microarray genetics test, CT scans, and MRIs. All of these came back clear. As his seizures continued and delays persisted, a geneticist recommended Whole Exome Sequencing. This test ‒ which was done in Germany because it isn’t available in South Africa ‒ finally provided a diagnosis when Levi was three and a half years old. 

The SLC1A4 deficiency is more common among Ashkenazi Jews, with about one in 144 people being carriers. That connection gave Martine some comfort. “I felt comfort in knowing that the majority of the other parents are our people,” she says. 

The deficiency affects how the brain develops. It’s caused by a problem in a gene responsible for transporting an important amino acid called L-serine to the brain. Without enough of this amino acid, the brain cannot develop properly. This can lead to a smaller brain size, muscle stiffness in the arms and legs, seizures, and developmental delays. 

Levi is completely dependent on others for his daily needs. He’s non-verbal, although his communication is improving with intensive therapy. He can walk only with assistance. 

Despite these challenges, his personality shines through. His parents describe him as “Mr Popular”. 

“He’s the friendliest and happiest little boy.” He loves being around people and thrives on affection. He enjoys school, time outdoors, and visits to the park, especially the swings. “He has the most beautiful smile,” his parents say. “When he looks at you, it’s as if he’s looking right into your soul.” 

Levi attends Herzlia Alon Ashel Pre-Primary in Cape Town. There, he receives therapies and support within a nurturing environment. The school has played a central role in the family’s journey. It has also given them the confidence to speak openly about Levi’s condition. “He’s treated just like the other kids,” they say. “We’re truly blessed to have this in our lives.” 

The reality that there is currently no treatment or cure for Levi’s condition has been difficult to accept. “At the beginning, it was earth-shattering,” Greg says. “The mutation is so minute that it was painful to think that something so small cannot be fixed.” 

However, it’s also been the catalyst for action. Through research, they discovered that advances in gene therapy and personalised medicine are creating new possibilities. Treatments for some rare genetic conditions are already in development, particularly in the United States and Europe. 

“The scientific tools exist to create treatments that can change the outcome of children’s lives,” Greg says. 

This belief led them to establish Rare Alliance, an organisation focused on addressing one of the biggest barriers in rare disease treatment, namely funding. “There’s no shortage of scientists and institutions that have the capability to solve these problems,” Greg says. “They lack the financial resources.” 

Rare Alliance aims to bridge this gap by connecting international philanthropy with leading scientific research. It’s working with researchers at Boston Children’s Hospital on a programme focused on SLC1A4. The goal is to develop a treatment not only for Levi, but for others affected by similar conditions. 

Greg and Martine are also co-founders of Jewish Genes, an organisation that focuses on raising awareness of Jewish genetic conditions, encourages testing, and drives funding for research into rare diseases. 

“With Whole Exome Sequencing, it’s now possible to identify a condition at its genetic cause,” Greg says. “We’re entering the dawn of a miraculous era where terrible conditions will be able to be treated.” 

For the Nafte family, the journey is deeply personal, but their vision extends far beyond their own experience. “There’s a path to treatment for Levi’s condition,” Greg says. “The science is at the point where it’s a reality that his life can be changed significantly.” 

They’re now focused on raising funds to support ongoing research. Their goal is to establish a dedicated treatment programme that could benefit others in the future. For readers, their message is clear. Awareness, funding, and early diagnosis can change outcomes. “We’re building a model to solve the funding gap for rare genetic conditions,” Greg says. 

Their story is one of resilience, but also of urgency. For families living with rare diseases, time matters. And for Levi, every step forward carries the hope of a different future.