Our second daughter Kshiti born in Sep 2016, in seemingly good health, did phenomenally well up until her first year of life. She 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. 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.
And this search brought us back home to Chennai in Jan 2018, where after an exhausting array of tests at Apollo Hospitals, our then 15 month old was diagnosed with a rare and severe mitochondrial disease called Leigh Syndrome (Detailed links provided below).
Leigh's is a rare and severely progressive Neurodegenerative condition, that as of today has no cure and offers an extremely grim prognosis, particularly if the onset is in the early years of life (infancy). Due to defective / mutated 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. While over 300 genetic mutations can cause Leigh Syndrome, mutations in her SURF1 gene are responsible for Kshiti’s condition.
The disease results in a progressive loss of mental and movement abilities (psychomotor regression), 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.
While the wait during our daughter’s MRI was the longest, most painful two hours we have ever endured and one that absolutely sealed our fate; nothing in this world can ever prepare a parent to face such a devastating diagnosis! To be told your child’s illness is a rare, progressive, and terminal one, all in a matter of a few hours, is something no parent should ever have to face. When we were told at the geneticist’s office, that this was their very first case and that they knew as much about this disease as us, we knew our lives would never be the same again.
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!
We came together with three other families www.curesurf1.org 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 lead scientist Dr. Steve Gray has done promising work in gene therapy for several other rare diseases, with one of them having made it to a successful FDA approved human clinical trial and we are hopeful our project will have a similar outcome.
Rare diseases typically do not attract the interests of the government or the big pharma as we are a statistically insignificant and non profitable segment. The burden of funding for research projects such as these, in search for a cure, therefore rests solely upon us parents who in addition to battling daily medical issues take this up willingly, simply because no one else will!
This is a time critical mission as we face the uphill task of raising $3.3M within a year, to fund the entire project from pre-clinical study initiation to a fully approved clinical trial. Funds of $100K already raised from our previous personal campaign has helped us to successfully initiate the pre-clinical phase of our project. 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.
In less than 9 months, this disease has robbed Kshiti of the abilities that most other two year olds can do with ease - eat, talk, walk and play with little to no certainty that she can achieve / regain any of these skills again. 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.
Hope for a cure is the best and only shot these kids have at life. Please help their hope come true!
More useful links
Understanding Mitochondrial diseases (Reading material and Videos)
Leigh's disease explained
Leigh's Syndrome - Symptoms, Cause, Inheritance, Diagnosis and Treatment