Meet Atharv | A boy with Rett syndrome & his family’s strength

Meet Atharv | A boy with Rett syndrome & his family's strength.

A boy, a rare diagnosis, and a family that refused to give up hope.

Ask Atharv's family who he is, and they won't start with his diagnosis. They'll tell you he is the heart of their home. He is brave and joyful. When he laughs, the room changes.

Atharv lives with significant disabilities, and he does not talk. But make no mistake, he communicates. Through his eyes and smile. The way he reacts to the people he loves. His family has spent years learning his language, and now they read him in a second. When he is happy, they know it, and those moments are everything.

“Atharv is not defined by his diagnosis. He is a brave, joyful, and deeply loved child who means everything to our family.”

When they first knew something was different

It started when Atharv was about nine months old. He was not hitting milestones the way other babies his age were. His mom noticed first. Then one night, while he was sleeping, he lost consciousness. Every parent's nightmare. They rushed him to the hospital; he was admitted, and he was diagnosed with epilepsy.

That night kicked off a search that would take years. The early tests came back normal, which sounds like good news, but it is not when you know in your gut that something is wrong and still have no answer.

“Watching your child struggle while not knowing the reason is one of the hardest experiences a parent can face.”

The diagnosis that changed everything

After being referred to a Developmental Pediatrician, they were also recommended to get intensive genetic testing including:

• Chromosomal Microarray Analysis Report

• DNA Methylation Study for Angelman & Prader-Willi Syndrome

• Molecular Diagnosis of Fragile-X Syndrome

• Whole Exome Sequencing and Sanger Sequencing

“The first three reports all came back normal. Even after so many tests, we still did not have answers. Finally, after the fourth test - Whole Exome Sequencing and Sanger Sequencing Atharv was diagnosed with Rett Syndrome (MECP2 mutation) on February 17, 2021.”

It was heartbreaking to hear. It was also, at last, a piece of the puzzle. And it came with a twist most people do not expect. Rett syndrome is almost always talked about in girls, but in boys, it is extremely rare. That meant nearly everything the family could find- the research, the resources, the other families- was about daughters, not sons.

Male Rett syndrome, and why awareness matters

When your child's condition barely shows up in the medical literature, you are on your own to find answers. Atharv's parents spent countless hours reading, researching, and reaching out to Rett organizations and support groups around the world, looking for anyone whose story sounded like theirs.

That is exactly why they are sharing his story. They want families and healthcare providers to know that Rett syndrome can affect boys, so the next child like Atharv gets recognized and supported sooner. A diagnosis only tells you so much. Rett does not look the same in any two children, and no two journeys match.

Starting over in Canada

In May 2024, the family moved from India to Manitoba. Moving countries is hard enough. Doing it with a child who has complex medical needs takes a plan. They brought a six-month supply of Atharv's medications and got to work building his care team here so nothing would lapse.

They are honest about both countries. India gave them fast access to specialists and, eventually, his diagnosis. Canada gave them something different: a team that looks at Atharv's whole life, his health, his schooling, his well-being, not just his condition. What caught them off guard was how much support exists here for children with disabilities, and how many people genuinely wanted to help.

There was a learning curve, of course. Referrals, waitlists, school supports, disability programs, all of it new. What they wished for was one clear guide for newcomer families raising a child with complex needs. What got them through was people.

"Moving to a new country brought new opportunities, but also a new system to learn."

“Overall, we are grateful for the care Atharv has received in both India and Canada. India helped us obtain answers, specialist evaluations, and eventually his diagnosis. Canada has provided ongoing support, services, and resources that help us manage his condition and focus on his future.”

Finding Community

That is where the Manitoba Rett Syndrome Association came in. Most families they have met through MRSA have daughters with Rett. Atharv's path as a boy is different in some ways, but the hard days, the hopes, and the love are the same.

“Support does not remove the challenges, but it reminds families they do not have to face them alone.”

Hope for what comes next

Ask what they hope for, and the answer is refreshingly down to earth. That Atharv stays healthy, comfortable, and surrounded by love. That he keeps making progress on his own timeline. That he keeps enjoying what lights him up, like his beloved Cocomelon. One of their dreams is to take him to experience it in person one day, just to see his face when it happens.

And they hope for something bigger too. A world that knows Rett syndrome can affect boys, so no family has to feel as alone as they once did.

“We don't define Atharv by his disability. We define him by his kindness, his resilience, his courage, and the joy he brings into our lives. He is not just a child with special needs-he is a wonderful son who has made us better parents and better people. We are incredibly proud of him, and we are grateful every day to be his mom and dad.“

A message to other families

To any family at the start of this, especially newcomers learning a country and a diagnosis at the same time, Atharv's parents keep it simple. Take one step at a time. Focus on what your child needs today. Learn what you can, ask questions, and advocate hard, because nobody knows your child like you do.

Celebrate every milestone, even the small ones. Especially the small ones. And hold onto this: your child is so much more than a diagnosis.

“You may not have chosen this path, but you do not have to walk it alone.”

Thank you, Atharv and family, for showing everyone who knows you what patience, resilience, and love really look like.

The Manitoba Rett Syndrome Association supports families affected by Rett syndrome across Manitoba. To learn more, get involved, or connect with our community, reach out to us anytime