To the Parents of a Child Who Just Received a Rare Diagnosis

In July 2016, our son, Mack, was diagnosed with SATB2-associated syndrome. He was the 53rd diagnosed case in the world.

Mack was 3 when he was diagnosed. We were on the hunt for the “answer” for more than two years. Developmental specialists, neurologists, geneticists, dental exams, X-rays, MRI’s, sight tests, hearing tests, physical therapy, occupational therapy, speech therapy, blood tests, genetic tests and, ultimately, a full genetic screening narrowed our options and opened our eyes.

It was bittersweet. The transition from “search” to “answer” was surreal.

The goal has been reached. The answer has been found. But the answer changes everything we thought we knew.

There is no way for a parent to mentally prepare for this event.

We sat on the small, uncomfortable chairs in the doctor’s office. The sterile white walls closed in. We held each other’s hands firmly and braced for the news. I hugged Mack, choking back tears urged on by the unknown. The geneticist explained: “We’ve landed on a planet. But we don’t know much about this planet.”

Being present for the moment that changes the course of your lives is something you see in the movies, not playing out in front of your eyes. How do we process the words that echo in our heads?

A tornado of thoughts swirled. Time seemed to slow down and speed up all at once. We heard the words. Asked a few questions. Took a few notes. And stumbled out of the hospital bewildered. 

We knew Mack was different than his brother and sister. We wanted to know why. But without an answer, there was always hope that the miraculous could occur — the differences would fix themselves and all would be “normal.” 

Naïve? Perhaps, but hope fills the void left by the unknown. 

When the hope evaporates, loss is left to fill that void. It’s a loss that needs to be grieved. Your world just changed in a moment.

We aren’t experts on grieving or special needs. We are only a short distance into our journey on this road less traveled. But we are the experts on Mack. And you are the expert on your child. 

We may not share the same journey, but we are on very similar roads. The most meaningful advice and support we have received on this special needs path has come from fellow travelers. Our hope is there is a gem for you hidden in the words on this page. 

Take this moment to feel. To hug. To love. You will have plenty of time to chart your course. Take this moment to move beyond the loss. 

Once you can breathe again, recognize this isn’t just a moment. It’s a lifetime. The trajectory of your life has changed indefinitely. And you’re the only one that can guide the way. You’re making this up as you go. You are the expert. 

That’s a huge responsibility. Intimidatingly huge. But with great responsibility comes great reward. The road ahead isn’t easy, but it is amazing.

Expectations? Screw expectations. Disabilities don’t meet expectations.

Work hard. Love your family. Own your path; don’t let it own you. Realize the gifts.

Mack is not what we expected. He’s exactly what we need.

We are a happier, stronger, more compassionate family. Mack makes us better people every day … just by being him.

Be patient. Maintain perspective. Pay attention to now.

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Image via Genevieve Stewart Photography