Six-year-old Janja Stojanović from Kragujevac is the only person in Europe with a gene mutation that usually results in a fatal outcome. In addition to Joubert syndrome, Janja also has polydactyly (six fingers) and ptosis of the right eyelid, which she had surgery on at just three months old.
At birth, Janja didn’t breathe for two minutes, which is why she was intubated and transferred to the neonatal unit, where she spent her first month in an incubator.
After an MRI of the head in September 2019, a diagnosis was established – Joubert syndrome, or underdevelopment of the cerebellum and brainstem.
Genetic analysis showed a combined heterozygous pathogenic variant in the MKS1 gene. Namely, it was also established that this adorable girl has a fatal gene mutation linked to the kidneys and liver.
Doctors, as her mother Tamara Stojanović previously told Blic, cannot believe that Janja is about to turn 6 years old. Children with her diagnosis usually don’t even reach their fifth birthday.
Good news has arrived
Her mother has now delighted Serbia with good news: the money for the therapy that means life for Janja has been raised.
“That day, that hour, that moment has finally arrived when we can all say WE DID IT! Wonderful people around the world, THANK YOU for everything! We owe the greatest gratitude for this action to the Instagram page “pravoslavlje” which initiated this action. First of all, we, as parents of our Janja, want to thank all of you and say THANK YOU. Thank you for every SMS, every payment, every auction, and every kind of engagement for Janja and us. We cannot describe the immeasurable joy in words. You saved a LIFE; you saved our Janja. We owe special thanks to our actor Miloš Biković who paid the entire amount that was missing for the medicine, as well as Kristina Tešić, an entrepreneur who donated a very large amount of money,” wrote the girl’s mother.
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Source: Blic
Photo: Oliver Bunić / RAS Srbija ; Društvene Mreže