Hand to Hold's Official Blog: Written by Parents for Parents

When the Geneticist Gave us Bad News

Luke, PB101“So, it’s possible your son has Meckel-Gruber Syndrome. But, I’m not 100% positive.”

Those were the words our son’s geneticist uttered six months ago. She also informed us that while it’s possible he could have it, we couldn’t be sure unless we did further genetic testing (not covered by insurance, of course) that would run in the thousands of dollars. And, even then, a positive diagnosis wasn’t likely. The syndrome is often fatal and the picture she painted for me was quite grim.

I then looked over at my son, who was happily playing with blocks and occasionally offering a “look momma!” as he built a new creation. Clinically, he looked like a pretty healthy kid.

You know what I did? Luke and I walked out the door and never went back. Because nobody has time for that kind of funny business.

You see, before Luke was born and before he was diagnosed with a myriad of abnormalities with major organs, I believed that the doctor was the expert. Don’t get me wrong, Luke’s specialists are amazingly talented. They have saved his life on more than one occasion, given us great counsel in times of uncertainty and provided resources that we could not seek on our own. In short, they are walking blessings.

But as Luke’s mom, I am the expert. I know how he’s progressing with eating because I’ve cleaned up untold amounts of vomit as he learns to tolerate new textures. I know his speech challenges because I was the one who waited 34 long months to hear him say two coveted words, “love you.” I know how sensitive his gut is as a direct result of  necrotizing enterocolitis because I’ve changed darn near every diaper and obsessed over its every nuance.

There is no one on this planet that has spent more time with my son than I have. It’s taken me 12 specialists, four therapists, nine hospital stays and nearly four sweet years with him to realize that I know what’s best for my son. As a specialist recently said, “You’re the expert, Mom, I’m just the consultant.”

I’ve chosen to focus on the positives, not the negatives; the knowns, not the what-if’s; and, the reality, not the uncertainty. On the days when you wonder, when you doubt your instinct, I say lean in to what your heart says. As the momma of a superhero, you really do know best.

Kathryn Whitaker About Kathryn Whitaker

Kathryn Whitaker (TX) is the mother of six (including two 36-week preemies).  Her fifth child was diagnosed with IUGR (intrauterine growth restriction), born at 3lbs. 9oz. and then developed a severe surgical case of necrotizing enterocolitis (NEC).  He has various medical needs as a direct, and indirect, result.  On her personal blog, Team Whitaker, she writes about what she knows: big families, carpool, kids activities, faith, her beloved Aggies, specialist appointments and sanity checks with her husband.  You can follow her on Twitter, Facebook and Pinterest.

Comments

  1. Marcelene Beezley says:

    You were right your son does not have Meckle Guber. I had a daughter that had it and it is 100% fatal. So the fact that your son was even born tells me he does not have it. Children that have Meckle Gruber can not live outside the womb. I know because I had the doctor that wrote the book on this syndrome and has done countless research on it. I also did countless hours myself reading all about Meckle Gruber. I just wanted you to know. Any questions feel free to contact me on my email.

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