A Mom’s Journey

By Jennifer Probst

 

It all started with an E.

We were in the optometrist’s office for a regular visit. My son, Jake, was in cross-country and wanted to try contact lenses instead of glasses. He’d already been through an exam six months ago, so we were hoping the appointment would go quickly so we could get home to dinner, homework, and our normal family schedule.

I had no idea my definition of normal would be forever changed after that day.

He couldn’t see the E. I got frustrated, because we all know it’s an E at the top of the eye chart, and I figured my son was distracted and wasn’t listening to the doctor. After a few tries, my concern grew as we realized Jake couldn’t see anything.

The doctor was puzzled. He decided to dilate his eyes, and while the drops were working, we walked around the mall. Did I suspect then? Perhaps. I had a strange frisson of fear clenching my gut, but I ignored it. He’d been sleeping a lot. It was his junior year, and he was stressed. He was a straight A student and did work for hours. At sixteen years old, he was growing fast, and his hormones were all over the place.

The doctor couldn’t find anything wrong, so he referred us to an ophthalmologist. When we got home, I told my husband, and he said not to worry. I tried not to.

After a litany of tests, the ophthalmologist informed us something was wrong with my son’s retinas, but he couldn’t tell what it was. He referred us to a retina specialist for more tests. We were all in disbelief. Jake was only sixteen years old. What could possibly be wrong?

He said he didn’t know.

We made an appointment with the specialists, who did an array of tests, then told us it was a genetic issue, but they weren’t sure which one. In the first of numerous scans we’d see over the next years, he pointed to the rods and cones of my son’s eyes, showing us the deep craters and bumpy lines that should have been smooth. We all spit in a vial—me, my husband, and my son—and they sent it out to be tested. We just had to wait.

It didn’t stop us from going down the portal of the Internet. After our own research, we came to our own conclusion. As long as it wasn’t this thing called Stargardt, we should be okay. Many diagnoses seemed fixable. Treatable. Many had hope attached to it.

Stargardt did not.

When we received the genetic test, the dreaded ABCA4 gene popped out at us on the report. My husband and I were carriers of Stargardt disease. There was no cure. My son’s vision was beginning to deteriorate at a rapid pace, and in six months, he’d lost more than half the vision in his right eye. In a fog, we learned the factors my son would be living with. 

A loss of central vision.

No cure.

Periods of plateau where the vision stabilized and then periods of rapid deterioration.

I remember thinking I’d be curled up in my room, under the covers, crying and believing my life was over.

Jake took the news with a positivity and sense of faith I rarely saw in adults, let alone a sixteen-year-old who suddenly had his future upended. My husband and I pulled it together and presented a united, strong front, but inside, I was breaking into pieces.

Those days were a fuzzy, emotional journey I only remember glimpses of. One mantra screamed in my mind over and over and over.

Give it to me, instead. I’d take it. Just, not him. Please, God, not him.

A medical diagnosis is a journey of grief, and we all went through the classic stages. Denial, anger, depression, bargaining. Finally, acceptance.

As a parent, we are trained early on to worry, but try to allow enough space for our children to breathe and grow and thrive. I’d prepared for so many factors: getting his license and driving; his first heartbreak; how to navigate the world of drugs, sex, and social media.

I never believed my son would be legally blind.

My path as a Mom diverged onto a side road; bumpy and full of hidden potholes. I’d lie awake at night, trying to wrap my brain around Jake’s future and my new role that I’d perhaps been preparing for my whole life. I battled with terror of the unknown and a diagnosis I couldn’t protect him from.

I questioned how I could be his advocate and help guide him forward when my heart was broken? The grief and painful ache lodged permanently in my body, and it would probably never leave. I was changed, like we all were, that day he couldn’t see the E. Our lives descended into endless doctor appointments. Research. Finding support organizations like the Foundation Fighting Blindness.

Jake had to learn to speak up for himself with his teachers. He couldn’t see the board. He couldn’t read his textbooks or take normal tests. He began not to recognize faces, even of his friends. He got lost more easily, making cross country running a bit more challenging.

My son is a writer and film student. When he could no longer read any normal print, we got him a Kindle, and he used audiobooks. As a book collector, I began hunting for large print books so he could still collect them. We got bigger television screens and made Imax movies a family adventure. Our house is now full of lights and magnifiers.

Jake took each challenge on, one thing at a time. We worked together. I began finding that delicate balance of being his advocate, yet allowing him to find his own way.

But there were other factors I hadn’t counted on. I have a core belief that I taught my son: Life happens FOR you, not TO you. There is beauty in everything, but we need to look harder to find it; to pay attention.

I learned so many things from my son.

I learned his positivity and faith in the world did not shatter even when faced with a life-changing disease.

I learned his ability to laugh and joke was one of his best assets.

I learned he needed his independence even more fiercely and that while the world tries to be taught to think outside the box, my son is forced to do that every day, in the most simplest of tasks.

I learned having Stargardt doesn’t change the person you are—it only changes the path taken and the scenery.  

I learned so many things from my son being diagnosed with Stargardt.

When things are harder, we are more grateful. We celebrate wins a little louder and the failures with much more kindness and understanding.

I learned I am now a better Mom. My heart is fuller. I love more deeply, with a joy that sometimes overwhelms me. I realize having him here is more precious than anything in the world, and that his challenges will only make him stronger.

I learned Moms bend far, but we don’t break.

I learned there is nothing more powerful; more unbeatable; more badass, than a Mom who stands beside her child and takes their hand. She is not ahead; she is not behind. She is a guide and a partner; an advocate and a friend.

She is one who loves more fiercely than any other.

And that will always be stronger than Stargardt, or any other disease.

 

 

Thank you, Jennifer, for sharing this piece with the Foundation Fighting Blindness community! Jennifer Probst is the New York Times, USA Today, and Wall Street Journal bestselling author of over fifty books in contemporary romance fiction. Her work has been translated in over a dozen countries, sold over 2 million copies, and was dubbed a "romance phenom" by Kirkus Reviews.