Understanding has always been power for me. If I can understand why something is happening, I feel better equipped to handle it.
So of course, when we got Cooper’s diagnosis I needed to know why. Why us? Why him? Why was this happening? But to be honest, I kind of already knew why. I had for awhile. But in order to understand that, I have to back up a little.
When Cooper was born, he had a huge patch of white hair mixed in with his otherwise dark hair. My whole pregnancy, I’d been asking Brandon if he thought he’d be born with my dark hair, or Brandon’s lighter hair. So when he came out with both, we joked he couldn’t choose. We were told that some kids are born that way and it goes away, while for others it stays. So we didn’t think much of it.
About three weeks after Cooper was born, I posted in one of my mom groups on Facebook asking whether anyone else’s littles had patches of hair like this. I was just curious, honestly. Some babies had tiny spots, mostly in the back of their hair, while Cooper’s was front and center. But there was one comment from a woman named Summer that stood out.
That white/blonde spot can be a sign of Waardenburg syndrome. I follow a YouTuber that has it and they say Mila Kunis has it as well. They tend to have the most beautiful eyes. You should look it up and see if he has any of the other characteristics.
Waardenburg Syndrome. I had never heard of it. And yes, out of curiosity, not concern, I Googled it. When I started reading, my world stopped. It was like I was reading through a checklist describing my perfect baby boy. The part that concerned me the most though was the hearing. Hearing issues go hand-in-hand with Waardenburg Syndrome, and Cooper had failed his test twice. I threw my phone at Brandon and told him to read what I had read. Worry kicked in for him at that point as well.
The next few days, reading about Waardenburg consumed me. I wanted to know as much as I could about what we were potentially dealing with. In short, Waardenburg Syndrome is a genetic mutation that can impact hearing, as well as pigmentation (in the hair, skin, eyes, etc.). There are four types, each having slightly differing manifestations. Typically it runs in families, but not always. In our case, it doesn’t.
Because of my suspicion after researching, I called and got Cooper in for a hearing retest the next day. Had this complete stranger on Facebook not commented, I had planned to wait a few weeks before retesting him as no one seemed overly concerned. But because of his alignments with Waardenburg, I wanted to know sooner. And thank god for Summer, thank god we pushed for faster testing, or we may just be starting this whole process from the beginning.
You all know by now that Cooper failed that next test. At that point, a good friend recommended seeing a doctor her family sees who had dealt with genetic concerns of theirs. We got in quickly, and he made me feel validated in my concern. He saw what I saw and agreed that Waardenburg Syndrome was the likely cause, then put in a referral for additional hearing testing at Children’s Hospital, which Cooper also failed.
While we haven’t had the “official” Waardenburg diagnosis, Cooper’s ENT and neurotologist is nearly certain that is the cause of his hearing loss. I’ve also connected with the mom of a little girl with Waardenburg Syndrome, and the resemblance is 100 percent there.
So now we wait. We have genetic testing in December, and likely won’t have the results for a few months.
But I know. I’ve known since I read the first article 6 weeks ago. I’ve known since I first saw photos of Waardenburg’s telltale white forelock and eye shape, since the dogs barked inches from Cooper’s ear and he didn’t flinch.
I’ve known this whole time that Waardenburg is our “why.”
And at first, knowing that terrified me. I didn’t understand how Brandon and I had come together and created a “gene mutation,” something that sounded so cold and clinical. It made me angry, to be honest. And as superficial as it sounds, I worried my son would look funny, that Waardenburg features would be glaringly obvious.
And maybe to others they are. But I don’t see it when I look at him. Instead I see the fullest, most perfect little lips. I see the deepest, bluest eyes. I see hair that makes him unique. I see gummy smiles. Despite all the worry that consumed me at first, now I just see my baby. My perfect, perfect baby.