OUR STORY
Ved was born on Aug 5th, 2015.
I remember waking up from my delivery to a sense of panic around me, to a discussion on why Ved did not cry immediately after he was born. I remember holding him in my arms when he was developing irregular heart beats and was immediately taken to NICU. A few days he was discharged and we happily came home. We were hopeful the worst was behind us.
At home, he was sleeping most of the time and showed no interest in feeding . We knew something about his eyes did not look quite right. By eight months it was clear to us that he had some developmental delays, as he started missing all of his milestones. We were terrified, and immediately got him into physical and occupational therapy and hoped that he could "catch up" with early intervention, as many children do. I saw the number of therapists and the frequency of therapy increased significantly, but the progress was painfully slow.
We watched as he fell further and further behind in development unable to sit up, crawl, focus, respond, walk or talk like other kids of the same age. In a couple of years he started having recurrent vomiting episodes every month where we ended up in the emergency. We were anxious and worried, we never knew what could trigger his vomiting as the frequency of episodes increased. We were always in a 911 mode. Simply getting out of the house to visit a friend or attend a meetup became a tedious task. It was difficult to connect emotionally with anyone and our participation in social activities or maintaining friendships became limited. Shock, denial, sadness and anger ruled our lives.
We started the lengthy process of seeking a diagnosis, never imagining how severe it could be. We serached for answers, undergoing hundreds of labs, enrolling in many different therapies, different types of treatments, genetic tests and diagnosis. Despite our efforts, we were unable to determine what was wrong with our son until he was 6 years old.
Finally in July 2023, Ved was diagnosed with a spontaneous splice site mutation on a gene called ‘POGZ’. A Guanine Base got replaced by a Cytosine Base in his POGZ gene. That was it. I could not believe that a single mutated base (out of 3.2B billion) could change everything for our family. The genetic conclusions were that some of his features can be associated with POGZ-Related Syndrome or White Sutton Syndrome
This news was absolutely shattering, as the kids with this mutation do not progress beyond the developmental level of toddlers, They suffer from cyclic vomiting syndrome, are autistic, have microcephaly, gastrointestinal issues and will need assistance in every aspect of life. However there is no active translational medical research underway for bringing treatments to kids with POGZ disorders and no doctors or specialists understood it completely. And worst of all, there are no treatments and no cure.
As soon as we got the diagnosis, I started looking up everything I could to learn about the gene, the more I learned, the more devastating it was. We were completely crushed and overwhelmed as we envisioned Ved’s future, and the loss of the life we had imagined for our son. I was angry at the unfairness of it all, how a random typo in the gene can prevent us from ever getting to know who our son would have been. I remember feeling completely paralyzed, sitting in a place of uncertainty knowing that we don't have control. We could not handle thinking about the future, the uncertainty of what is going to happen, if he will ever walk or talk or how long is he going to live.
In Dec 2023, I received a book "The future is faster than you think" as a Christmas gift. The book had a detailed chapter about the future of healthcare and how converging technologies are going to transform the healthcare world faster than we think. Around the same time, I came across a blog from Prof. Matt Might (Precision Medicine Institute) about hunting down his son's killer while learning to accept the unacceptable. These two things became a turning point in my life. Admittedly, as noted by Prof. Matt, the forced philosophical learning is a result of collisions with hard inescapable truths. I learned through him that acceptance is not a linear process, but the key is to distinguish between "Acceptance" as surrender and "Acceptance" as acknowledgment. Accepting the truth is not giving up, it is merely acknowledging the world as is, rather than the world we wish it were. I realized that true acceptance is acknowledgement followed by action. At that moment, I knew I was going to do something. I could not just sit and wait for the disease to play out. I did not know what I was going to do or how I was going to do it, but if something could be done, I was absolutely going to do it.
I first applied and was admitted for Drug Discovery courses with Harvard Medical School. I emailed 100's of researchers and doctors and patient advocates all over the world and started learning about the gene. I slowly began to realize that this was not a complete pipe-dream - there is technology and science that exists and there are families who have done this. There is a very rational proven pathway to develop a gene therapy. It is heartbreaking as a parent to know that the only thing that is standing between your sick kid and a cure is millions of dollars. So we started 'Cure Pogz Disorders Foundation' in March 2024 and are on a mission to find a cure for Ved and similar kids/adults with Pogz Disorders.
Each day that Ved does not have a treatment, he is falling further and further behind in his development and there is no time to lose. We have a world class Scientific Advisory Board and are actively discussing treatment strategies for Pogz Disorders. We are no different than any other parent who wants their child to achieve their full potential. For us, it just happens to include developing a gene therapy.
Our love for Ved and our hope for his future fuels our mission. We are determined to give Ved and others like him, a chance at a fuller life. We want 'Ved' to be the first generation kid who gets a cure for his disease through 'Gene Therapy'. Our work is not just going to benefit Ved and similar kids, but will enhance cutting edge science to treat everything from Cancer to Alzheimeir's to Parkinson's and other genetic diseases.
At this point, we are doing everything we can physically and financially to push forward. With your help, we aim to raise $2M. We need to raise the money and complete the science for the specific gene so the cure can be administered. We cannot proceed without further funding, the sooner we raise the money, the faster he will have a cure.
Every $5 raised will move us an inch closer to our mission. Thank you for being a part of our journey to a cure. Thank you for helping my baby.