My baby found a rare treasure.
So rare, nobody has seen it. So dangerous, two people died trying to find the treasure. Four hours after the baby was born, doctors came up to me and said “Your son is different”. Doctors examined him in the hospital for twenty three days but couldn’t find why. Specialists spent one year conducting all kinds of tests on him, but couldn’t find why.
Big break came on his 1st birthday.
My wife and I had organized a Finding Nemo themed outdoor birthday party on a beautiful sunny afternoon. As we were getting ready to cut the cake, I got a call from the Genetics department at Seattle Children’s hospital.
“Your son Raghav has a rare mutation in a gene called GPX4”, said the voice on the other end. “So rare, only two other babies in the world were known to have it. So dangerous, both the babies passed away within 30 days after birth. Your son is doing much better”
“Your son is doing much better” almost sounded to me like “Is your son still alive!?” — Words, every parent is eager to hear during the first birthday party.
Raghav has a rare treasure in his DNA — a change in his gene that has a 1 in 75 million chance of occurring. It is not so much a treasure. It is a curse.
Raghav is 1 year old but cannot sit up without support. He doesn’t have the muscle strength to hold a toy in his hand. He doesn’t have the oral strength to swallow food. He cannot hear normally. His bones are not developing as expected. We really don’t know what his future looks like.
Will he walk? Will he run? Will he go to college?
Will he even live long enough to go to college?
NO Treatment Today
As of today, there is no treatment for Raghav. Our only option is to “monitor him closely”. In other words, we have to wait until his symptoms get severe, give him some pain killers, and comfort him hoping things will get better tomorrow.
NO Hope for Future
Is there a possible treatment in the future? NO.
No research labs are working on this problem. No pharmaceutical company is interested in creating a drug.
Why?
Because there is only one patient in the world — my son. Nobody wants to spend tens of millions of dollars just to treat one person.
This kills me. Every night I go to bed hopeless, sad and worried for my son’s future. My family firmly believes that a miracle will happen soon. This is life, not a Disney movie. Miracles don’t happen here.
I am the Miracle
After several months of frustration, I decided to be the miracle for my son. I decided to challenge the status quo.
After weeks of cold calling research labs, I found Dr. Russell Saneto, a Professor of Neurology at University of Washington and an expert on Mitochondrial Diseases. He has agreed to lead the research efforts to understand more about this disease. His team is going to recreate Raghav’s mutation on a mouse and examine the effects. This is the first step towards understanding more about this disease, identifying potential drug candidates, partner with pharmaceutical companies to test them on a mouse, submit a proposal to the FDA, conduct clinical trials and eventually administer the drug to Raghav.
This could take several years, millions of dollars, and hundreds of people working on it. I don’t know if I will succeed. But I want to take the first step and cross the remaining bridges when I get to it.