Karthikeyan Subramaniam, of Jersey City, New Jersey, has approached crowd funding sites to seek the public’s help with donations to help his 2-year-old daughter battle a rare disease she has been diagnosed with.
Kshiti is the Subramaniam family’s second daughter, born in what seemed to be good health in September 2016.
According to a story posted on crowdfunding sites GoFundMe and India’s largest crowdfunding site Milaap, Kshiti hit all the standard milestones on time, with no indications of the tribulations that would soon follow.
“Sometime after she turned one, something seemed amiss as her growth started to level off and she soon began falling off the growth curve, at a frightening pace,” Subramaniam wrote. “While routine pediatric visits categorized her as a child that failed to thrive, we feared there was more to her stalled growth and began the search for doctors, who would take our concerns seriously,” the Indian American added.
The search, according to the post, took the family to Chennai in January this year where Kshiti was diagnosed with a rare and severe mitochondrial disease called Leigh Syndrome.
The disease is a rare and severely progressive neurodegenerative condition, which as of today has no cure and offers an extremely grim prognosis, particularly if the onset is in infancy.
Due to defective genes, mitochondria, which are the power houses for our cells, fail to function normally, and over a period of time the lack of energy production eventually leads to cell death, Subramaniam said in his post.
While over 300 genetic mutations can cause Leigh Syndrome, mutations in her SURF1 gene are responsible for Kshiti’s condition, he said.
The disease results in a progressive loss of mental and movement abilities, eventually leading to vision, cardiac, renal and respiratory complications. Children with Leigh’s typically do not make it beyond their early childhood, even if that, Subramaniam added.
“While we spent the first few weeks crippled with fear and helplessness, watching our child slowly regress and not be able to do the normal tasks she could before with ease — eat, move around, say words; we promised ourselves that we needed to get stronger, to give her the best shot at fighting this disease. And fighting this as hard as we can is our only aim and hope now!” Subramaniam wrote.
The family got together with a few other families to initiate a research project in gene therapy targeting SURF1 Leigh Syndrome, led by a research team at UT SouthWestern in Dallas, Texas.
“As we begin the pre-clinical phase, it is with the hope that this will lead to a successful clinical trial and eventually to a cure for this disease and possibly many other, similar diseases,” the father wrote.
“This is a time critical mission as we face the uphill task of raising $3.3 million within a year, to fund the entire project from pre-clinical study initiation to a fully approved clinical trial,” he said. “While we are happy to share that this phase has been fully funded for, we still have a long road ahead to reach our goal.”