Irina's Story
We are Irina's parents, Ana and Doru. God has blessed us with 2 children, Matei, aged 3, and Irina, aged 1.
Irina's story began during pregnancy. In the third trimester, during an ultrasound, the gynecologist observed that the right lateral cerebral ventricle was 10mm in size – the upper limit. We were referred to another specialist for a second opinion, and at his recommendation, we performed a fetal MRI at 35 weeks. The result indicated partial hypoplasia of the corpus callosum.
At birth, Irina received a score of 8/9. From the first days of life, she was monitored by a pediatric neurologist. At 3 months, it was observed that she was not holding her head properly and had hypotonia, which is why we were recommended to start physical therapy.
Despite all our efforts to protect her, Irina went through numerous illnesses, which led to repeated visits to the emergency room and hospitalizations. Doctors explained to us that, due to hypotonia, she is more vulnerable and prone to such episodes.
Irina goes to physical therapy daily, along with other forms of therapy. Therapies do not stop the progression of the disease, but they are essential to support her development and give her a chance for small progress.
Subsequent transcranial ultrasounds also confirmed that the corpus callosum is thinned. At the neurologist's recommendation, we did genetic testing. The result came when Irina was only 10 months old and shook our world: the diagnosis of Spastic Paraplegia type 52. It is the only case in Romania and one of only 55 cases worldwide. The disease is neuromuscular and degenerative, severely affecting both mobility and cognitive development. In some cases, epileptic seizures also occur – which is why Irina currently has specific treatment.
Because in Romania doctors have no experience with this rare disease, we decided to go for a consultation at Sant Joan de Déu Hospital in Barcelona. There we met Dr. Laura Carrera, a specialist who knows this condition and who gave us, for the first time, the feeling that we are not alone in this fight.
There is no treatment, YET.
The only chance for a treatment for Irina is a research from Barcelona, founded by the parents of another sick little girl, Abril. In December 2024, they obtained positive results on mice, but funds are still needed to continue with the next steps. The study is funded exclusively from donations.
During our visit to Barcelona in July, we had the opportunity to meet Laura Rodriguez, a predoctoral researcher, who was directly involved in implementing this study and presented us with the latest results. Currently, the treatment is being tested on healthy primates, to verify safety and confirm that no side effects occur. If everything goes well, the next step will be initiating the clinical study.
Our goal
So far, we have managed to raise 232,000 €, but approximately 53,000 € are still needed to complete the research. If the results are good and gene therapy proves safe for children, treatment development could begin, with an estimated cost of 3,000,000 € for 5 children.
