Chromosome 12, Microdeletion

My son — B-man or Bucky, depending on his mood — had just awoken from a six-hour surgery. The surgeon came out and gave us an adrenaline-fueled recap. I will never tire of hearing this part: “He’s going to be fine. Everything is going to be OK.” That pervasive melty feeling in my legs started to fade. [...]

The dad swoops in, whisking his son away from the playground. “We’d better get going!” Moments earlier, my then 2-year-old son, Branko, had mustered up a weak “hello” for the boy after sticking his tongue out for a solid 30 seconds. It was his typical greeting at the time. Branko’s voice is still weak from [...]

My son, Branko, can accurately be described as medically fragile. The rap sheet for all the scary stuff that’s happened to his body is beginning to sound fictitious: multiple fractured femurs, pneumonia, lung failure, rodding surgeries and more. My husband and I have spent an extraordinary amount of time in the hospital with him. While [...]

As a self-certified, part-time, special-needs mama blogger, I read all the stuff. I’m borderline obsessive with reading every single tiny thing out there that might have anything to do with children with special needs, or more specifically, rare genetic diseases. I may have even reached out to you (yes, you!) over the past year. And [...]

I’m not a doctor. I haven’t even made it to Season 4 of “Grey’s Anatomy” — yet. However, my son, Branko, attracts a lot of attention from amateur doctors, people who think they know a thing or two about medical science. Here are a handful of medical clichés people have shared with me over the [...]

It’s hard to be a skinny baby. I mean, I don’t exactly know how a skinny baby must feel, because A) I wasn’t a skinny baby and B) I don’t even remember being a baby. But my son, Branko, was a skinny baby. Having a rare chromosomal mutation meant his physical appearance was slightly different than [...]

Over the past three years, most of the updates on my son, Branko, and his health were plagued with negativity. Branko is medically fragile and has a chromosome 12 microdeletion. It’s not like we wanted to make everyone we spoke to feel like a pile of garbage, but things were just really bad for a [...]

Dear Mom Waiting at the Orthopedics Clinic With Her Kids, It was a hot day. And heat means it’s going to be a rough day for my son, Branko. Summertime breathing was a grueling task due to all the fluid junk in his chest. I showed up in the waiting room, scanning the area for [...]