Two-year-old Kshiti Karthik from New Jersey has been diagnosed with Leigh Syndrome, one of 7,000 rare diseases and ailments that currently has no FDA approved cure, and her parents are trying to raise money for an FDA approved clinical trial, which would be the first step in finding a cure for this devastating disease.
Leigh Syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. The signs and symptoms for this disease progress rapidly and early symptoms may include poor sucking ability, loss of head control and motor skills, loss of appetite, vomiting and seizures, with advanced symptoms, including weakness and lack of muscle tone, spasticity, movement disorders, cerebellar ataxia and peripheral neuropathy, according to the NIH.
When Kshiti started showing signs of the syndrome, her parents, Divya Ramesh and Karthik Subramaniam went to several physicians in New Jersey to find an answer to her condition, but pediatricians couldn’t figure out a cure.
Finally, the couple decided to take Kshiti to Chennai, India, earlier this year.
In India, after conducting multiple tests, doctors were able to diagnose Kshiti with Leigh Syndrome.
At the time Kshiti was only 15-months-old and just weeks after diagnosis, the disorder caused neuro-regression and made her lose the ability to eat, talk, walk and play.
In the absence of a cure, Kshiti’s disorder needs to be managed with nutrition, supplements and therapy and it has to be made sure that she does not fall sick as infections can be deadly for children with Leigh Syndrome.
Meanwhile, her parents and researchers are raising money to fund a clinical trial for her treatment.
Divya and Karthik became advocates for their daughter’s disease and with two other families, they have founded a 501(c)(3) non-profit called CureSurf1 Foundation.
Divya told News India Times that the foundation is built on a mission to fund SURF1 gene therapy research at UT Southwestern Medical Center in Dallas, Texas.
“The hope is that this research project will lead to an FDA approved clinical trial, which would be the first step in finding a cure for this devastating disease because it is not funded by the government,” she said.
With a goal of raising $3.3 million, the foundation has raised only $513,067 thus far. However, Divya’s main concern has been the lack of donations, especially from the Indian American community.
“Whenever it comes to raising money for funding a medical research project, people just don’t want to donate the money. What they don’t understand, however, is that this is the only hope we have,” Divya told News India Times.
“There are so many Indian Americans out there that are just focusing on investing their money back in India and helping the underprivileged there, but nobody seems to pay attention to the Indians who live in America and who actually need their help during these kinds of difficult times,” she added.
Divya said that the family has been doing everything to raise awareness about Leigh Syndrome, from holding small fundraisers and talking about it in their workplaces to getting 10-minute slots at small events in the community, to share their story.
“Luckily, we have good support from our family and friends. Now we are just looking for support from the community. We need the money for the research so we can get a clinical trial up and running in the next 12 to 18 months,” Divya emphasized.
Along with receiving therapy and visiting the doctor regularly, Kshiti is currently being fed through a feeding tube so that she can get the right kind of nutrition and energy needed to help her try to fight the disease.
“While it is an everyday fight to keep her stable, the hope and promise of a cure is what keeps us going, even on the toughest days,” Divya added, hoping that the community will now understand their dilemma.