a baby that came early
Ona was born in July 2023. She was a few weeks ahead of her due date, which meant that she had to spend a few weeks in the Neonatal Intensive Care Unit (NICU) at the Hospital Sant Joan de Déu in Barcelona. As she was premature, her return home was already somewhat atypical and has always been accompanied by controls and follow-ups to ensure that her development followed its normal course.
Constant monitoring by both the early care team (CDIAP) and the hospital, and the observation of certain signs led to a genetic study. The study determined that Ona had a rare neurodegenerative disease: SPG50.
the disease changed everything
The diagnosis was devastating for us, a moment that marked a before and after in our lives and in hers. The doctors at the hospital informed us of the characteristics of the disease, of its consequences. They could not be sure that Ona would walk, and if she did at the age of 10, she would most likely be in a wheelchair. There are only cases of young adults; it is possible that she will never speak, that the cognitive impairment will be moderate to severe. We don’t know much about how this disease will eventually affect and limit Ona’s life.
In the midst of all this shock, we started to look for as much information as possible about the disease, read studies and similar cases, hoping to find help to offer Ona a chance to improve her future. And then we came across the case of Michael Pirovolakis and the Columbus Foundation.
Un camino posible
We contacted Michael’s father, Terry Pirovolakis who was able to develop a gene therapy for his son, and the surprise came when Terry himself told us by word of mouth that Ona could receive it. Terry connected us with the Fundación Columbus and, from that moment on, we began to get excited about the opportunity that was opening up for Ona.
The clinical trial, which may help her have a better quality of life, is being conducted at the UT Southwestern Medical Center from Texas University where the pediatric safety and efficacy of the gene therapy treatment Melpida is being evaluated.
And here we are, doing everything we can to cross the Atlantic and give our daughter a chance. Help us make it possible!
