The story of Ivan

I had to Google it, ARHGEF9, the name of my son’s genetic mutation. I had been suspicious of something going on since Ivan was 7 months old, but over and over again I had been told by friends and family that I was overthinking and obsessed. Although they were trying to be reassuring, it made me feel crazy. You would think getting a diagnosis would be validating, but more than anything I was devastated. I would have loved to be wrong.

ARHGEF9 gene mutation is a rare, X-linked neurodevelopment disorder that can cause intellectual disability, autism and epilepsy. Many with the disorder are nonverbal and like all genetic disorders, severity and symptoms range from person to person.

Learning this information wasn’t easy. I remember getting the diagnosis and my doctor said, “I am going to teach you how to use Google Scholar so we can learn about this disorder together.”
As supportive as my doctor was, it felt ridiculous that my son’s team of medical professionals knew as much about this disorder as I did. I’ve come to learn parents often know more than their child’s doctors, much to our dismay.

Since my son’s diagnosis, I’ve learned new terms like medical mom and what it truly means to be a health advocate. It’s terrifying to think my husband and I are solely responsible for the quality of care our child receives. If we aren’t PUSHING for medical discoveries, treatments and therapy services for our son, then no one is.

Dealing with rare diseases is such a lonely road, but I was grateful to find a support group of families with the same disorder. Knowing there are other parents available to ask questions and advice of makes the journey feel more possible.

And although learning about my son’s diagnosis was heartbreaking, now I have a new perspective. Each and every day he works so hard to do the things “normal” parents and children take for granted. Just to learn to walk he has to push his brain to new limits, let alone him trying to navigate turning a corner, stopping, or sitting. I am truly in awe of him every single day and the willpower he has.

People say all the time how resilient children can be, but my son never fails to bring tears to my eyes when he pushes through a new boundary and smiles at me as if to say, “See mom! Look at what I can do.”