According to a story from NRI Pulse, Kiran and Anju have been forced to watch over the past year as their daughter Aadya’s physical and mental condition declined. After serious run in with the flu last year, everything seemed to start going down hill. Aadya was diagnosed with Leigh syndrome, a mitochondrial disease that leads to physical and mental decline. There is no known cure and as of now it is ultimately lethal. Aadya’s disease has robbed her of her speaking ability, and her movement ability is also severely restricted.
About Leigh Syndrome
Leigh syndrome is a type of neurometabolic disease that impacts the central nervous system. Levels of thiamine triphosphate or often abnormally low or absent altogether. Mutations of the mitochondrial and nuclear DNA have been implicated in Leigh syndrome, and there are a number of different variants that have been linked to different genetic abnormalities. Symptoms often appear after a triggering event like surgery or an infection which places strain on the child’s body. Symptoms include vomiting, diarrhea, difficulty swallowing, muscle weakness, dystonia, and ataxia. Treatment is mostly supportive, but may include succinic acid, thiamine, or sodium citrate. A high fat low carn diet can benefit patients with X linked Leigh syndrome. Few patients survive beyond their teen years; respiratory failure is the most common cause of death. To learn more about Leigh syndrome, click here.
Coming Together for a Cure
Divya and Karthik’s daughter Kshiti, who is just two years old, was also diagnosed with Leigh syndrome. Overall, their story is similar; they faced a frustrating diagnostic process, and finding out that their daughter had an incurable, fatal genetic syndrome was far from comforting.
However, these families are not standing by idly while their children suffer. Divya and Karthik helped start the Cure Surf1 Foundation, a nonprofit organization which is named after the mutation that is responsible for both Aadya and Kshiti’s Leigh syndrome. Both of their families have become active in the foundation, which raises money to help fund research into this rare syndrome that could hopefully lead to a cure or an effective therapy. Divya says that many people hesitate when they ask for donation for a rare disease that they haven’t hear about, which is a reflection on the overall lack of awareness about rare disorders like Leigh syndrome.
To learn more about the activities of the Cure Surf1 Foundation, click here.