Persephone’s story

Persephone was born in April of 2023 a beautiful, healthy, and happy baby. Since then she has developed a personality all her own. Sometimes giggly, other times devastatingly serious, Persephone brings joy and smiles to her parents, siblings, and everyone she meets. Although perfect in her parent’s eyes, Persephone does have one glitchy gene. In July of 2025, Persephone was diagnosed with Spastic Paraplegia-56 (SPG-56).

The journey to diagnosis began at 1 year old when she started missing developmental milestones. By a year and a half, with concerned parents and doctors, Persephone began seeing specialists - everything from orthopedists, neurologists, physical medicine and rehab specialists, physical and speech therapists, and finally a geneticist. After a complete sequence of her genome, doctors diagnosed Persephone with SPG-56, a rare degenerative genetic condition.

What is SPG -56?

SPG-56 is a degenerative brain disease that normally begins in childhood and continuously worsens throughout life. SPG-56 symptoms usually begin between ages 1 and 2. Degeneration of the neurons (the nerve cells in the brain) causes spasticity (tightening or stiffening) and weakness in the legs, arms, and elsewhere in the body. Commonly, children with SPG-56 lose the ability to sit, stand, walk or talk. Others also lose the ability to use their arms, develop macular degeneration, or a cognitive impairment.

Silver lining: there is hope!

Persephone was diagnosed early, before the worst of the symptoms had developed. And, while there is currently no cure for the rare genetic condition, a group of families with children affected by the disease have spent years funding and researching a treatment. Based on a successful gene therapy for Spinal Muscular Atrophy, researchers have developed a treatment for SPG-56. Clinical trials for that treatment begin at the end of 2025 and will continue through 2026. Although it is a devastating diagnosis, the silver lining is that Persephone was diagnosed in time to participate in the upcoming clinical trial.

The only thing that remains is to raise funds to produce the dose of treatment, and pay the clinical expenses over the one to two month trial (hospital costs, etc). The gene therapy itself will cost approximately $600,000 to produce and the clinical trial expenses are estimated to cost another $100,000. Hopefully this treatment will halt the progression of Persephone’s SPG-56 and, with continued physical therapy, allow her to live a normal life.

With love,

Persephone, Erica, and Kevin