My baby did what 75 million people couldn’t do!

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.

We are raising money to fund Dr. Saneto’s research. Time is of essence. The earlier we treat Raghav the lesser damage to his body.

Donate Now

After growing up, Raghav might become a doctor, scientist, singer, actor, or a Nobel laureate. But whatever he does, I will teach him to be kind and give back to the community that made his life a reality. You are a part of making this dream a reality. Each dollar takes Raghav one step closer to living life the way you and I do.

Be generous.

Be kind.

Be the miracle Raghav needs.

THANK YOU ❤️
Ramya & Sanath
sanath@gpx4.org

Medical Details

If you are curious about the details of Raghav’s syndrome, read ahead. Lots of tongue twisting, brain bending, science-fiction sounding words ahead.

Raghav has an autosomal recessive mutation in GPX4 gene (C.647 G>A, P.R216H) at location 19–1106433. Raghav’s father and mother are heterozygous for the p.R216H variant in the GPX4 gene.

This is a missense variation never reported in literature in the homozygous form. Two other cases reported in literature come from this paper by Smith et al. (https://www.ncbi.nlm.nih.gov/pubmed/24706940). Both the babies reported there had a loss-of-function mutation that caused severe forms of symptoms seen in Raghav.

Raghav’s symptoms include:

  • Spondylometaphyseal dysplasia, Sedaghatian-type
  • Hypotonia
  • Auditory Neuropathy
  • Mild optic nerve hypoplasia
  • Microcephaly
  • Dysphagia
  • Developmental Delays

Glutathione Peroxidase 4 (GPX4) is an antioxidant defense enzyme important in reducing hydroperoxides in membrane lipids and lipoproteins (Yoo et al. 2012). GPX4 knockout mice exhibit neuronal loss, ataxia, and seizures (Wirth et al., 2010).

gpx4

Stories about patients, research, and treatments for…

Medium is an open platform where 170 million readers come to find insightful and dynamic thinking. Here, expert and undiscovered voices alike dive into the heart of any topic and bring new ideas to the surface. Learn more

Follow the writers, publications, and topics that matter to you, and you’ll see them on your homepage and in your inbox. Explore

If you have a story to tell, knowledge to share, or a perspective to offer — welcome home. It’s easy and free to post your thinking on any topic. Write on Medium

Get the Medium app

A button that says 'Download on the App Store', and if clicked it will lead you to the iOS App store
A button that says 'Get it on, Google Play', and if clicked it will lead you to the Google Play store