Fight for Kshiti - Our Mito Warrior’s Story
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 of the standard milestones on time, and was fast becoming her own little person with boundless curiosity, energy, and an infectious smile, growing to be the perfect playmate for her older sister. 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. After an exhausting array of tests at the start of this year (2018), our then 15 month old was diagnosed with Surf1 Leigh Syndrome - a rare and severely progressive Neurodegenerative condition, that has no cure and offers an extremely grim prognosis, particularly if the onset is in the early years of infancy.
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. While we as a family are still coming to terms with this, we are focusing our energies now, on giving Kshiti the best quality of life and care possible, whilst targeting to slow down the disease progression as best as we can.
Kshiti has already experienced developmental / neuromotor regression since her diagnosis. In less than 4 months, she has now lost her ability to stand, sit properly without support or crawl without frequently falling over. Her weakening muscle tone prevents her from performing normal tasks, which other children her age are able to do with ease. Despite overcoming her feeding challenges during her decline, Kshiti’s inability to gain adequate weight and nutrition has compelled us to get her a feeding tube now. While we know little about what the future holds for Kshiti, we are currently focusing our present on keeping her as stable as we possibly can.
As a parent, the utter despair, hopelessness and unfairness you feel, when told your child might not have too many years left is indescribable, particularly when your child is only all of 21 months!
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!
Thanks to the initiative of the Woleben family, who have identified a strong research team willing to take on SURF1 Leigh’s, a research project in gene therapy targeting the SURF1 gene is now set to begin at the 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.
Please come join us in our fight, as we rally all our efforts in ensuring this pre clinical study is successful in paving the way forward for a cure for this deadly disease, which will be a first in the world of Leigh’s!
Your help and support is much appreciated by our three families, who have decided to give it our all for our three kids and countless others!
The Karthikeyan Family