Game Changer

I had every intention of writing something uplifting. Something witty. Something adorable. Something non-medical. Something about puppies and rainbows. But the nitty gritty over which I am forever stumbling made a surprise appearance this month, and I have to lay it all out here, because the information we received is a game changer.

You might recall that Ben saw a geneticist a while back, and that I was not Her Biggest Fan. She gave us news I wasn't ready to hear. I never *hyperventilate* wan-wan-wanted to see her stupid face again as long *sob* as I *sob* lived! You might also recall that on that day, we tried to draw blood from Ben for genetic testing. When I say "we," I mean some trained lab technicians, not me. I still think I would have fared better than they did that day when they stuck my baby over and over again, failing to find a vein after four tries, and admonishing me to have him well hydrated next time. Whatever. You try making Ben drink when he doesn't want to. Try making him do anything he doesn't want to do, and then we'll talk. Benny Ben is more stubborn than a mule, which I contend will come in handy for him.

I went on to learn new things about Ben, spending the next many, many months entrenched in all sorts of therapy, canceling every request for a follow-up appointment with this geneticist. I figured that we had enough other doctors and that he had plenty of care. I wasn't about to cancel a therapy appointment just so we could go back to that awful place. Read: I wasn't about to disrupt our chaotic but comfortable weekly routine just so I could go and ultimately get some news I didn't really want to know. Blindly selfish? Yes. 40 lashes to me.

Cut to April of this year. We took Ben to see Dr. Alexander, the pediatric rehabilitation specialist at UNC. We thought that he could order the genetic testing, circumventing the genetics system and still getting the results we wanted to know. No. No, no, we still had to go back and see the Dreaded Geneticist. Since our initial visit, nearly twenty new genetic tests had come into existence, and we didn't want to miss anything, so we needed a new order. Well, I could hardly argue with that, so we made an appointment and went back to see Dr. Calikoglu a couple of weeks later. I had my scowl on, prepared to hate her guts and tell her that despite her glum prediction, my kid was the best kid ever, thankyouverymuch. All along, as it turned out, the jackass had been yours truly. This very dear woman was revealed to be part cheerleader, part mother, part super-doctor, and part Turkish. She told us that she was thrilled to see all that Ben was doing: crawling, feeding himself, "talking" and interacting with her socially. She admitted that she would have doubted Ben's ability to achieve those milestones had she been asked those many months ago about Ben's developmental prognosis. She kindly told us that she knew we (read: just me) had not been ready to accept or hear what would have seemed like devastating news at that time. She remembered that I asked all my questions while trying desperately to choke back tears. She spent nearly an hour with us before sending us down to have, at long last, Ben's blood drawn for genetic testing. Simple as that.

Cut to five weeks later when the results arrived. Landy and I went to meet with Dr. Calikoglu and Christi the Genetic Counselor. I don't know what I expected. Nothing new; carry on? Just as we thought: Ben is a unique genius who is just taking his sweet time? Some combination of that. What we learned changes everything, but it doesn't really change anything.

Ben has a rare chromosome disorder.

Excuse me? What?

Ben has a rare chromosome disorder.

Oh, well, we love rare disorders here in the Townsend family, so bring it! But could you be more specific, please?

Sure. Ben's karyotype (description of the chromosome abnormality) is 46, XY, del 6q25.3qter. Get it? For all you genetics junkies out there, what this means is that on the long arm (q) of Ben's sixth chromosome, everything at and after the band at 25.3 is deleted, also called a terminal deletion. Twelve million base pairs never showed up for Ben's birthday, resulting in about 79 missing genes. To paraphrase my dear friend Jules, those base pairs can just rot for deciding to skip the party that is Ben Townsend. Their loss. While I'm at it, I'd like to extend a dirty look to nucleotides, double helixes, DNA, RNA, ACGT, ribosomes, and everything else I vaguely remember from Cell Biology.

Despite my scathing diatribe (It was a lot more scathing before I censored it to protect your delicate eyes!) regarding all things chromosome, I'm actually at peace and relieved to know why Ben is Ben. If you want to know more about being a member of the ultra-exclusive 6q disorder club, peep this. If you know our youngest at all, you will find yourself smacking your own forehead and muttering, "Son of a biscuit, that's Ben."

Seizures? Check.

Developmental delays? You know it.

Microcephaly? As it turns out, yes. And I'm okay with that.

Strabismus? That's us!

Suddenly, just when I had been thinking that knowing WHY wasn't all that important, someone dropped a THAT'S WHY in my lap. I'm sincerely glad I know. Every single challenge Ben has faced, with the exception of the Pepsi Challenge, has been secondary to this chromosome deletion. So that changes everything, right? Yes, it does. We are no longer focusing squarely on PH; we accept that Ben has microcephaly; we are not agonizing over his lack of progress in expressive speech; we are no longer concerned that John could also have PH. Why are we no longer concerned about John? We know (with near certainty) that Ben's chromosome deletion was a de novo occurrence, meaning that both Landy and I have normal chromosomes, and this was a fluke. Ben is the 40th documented case of this specific deletion. Ever. Anywhere. He's truly one in several million, give or take.

What will we do differently? I think that anti-seizure medication is imminent, whereas before we didn't anticipate having to even think about that until his pre-teen years. Other than that bouquet of roses, not much will change. Ben is still the same kid he was the day before we received this diagnosis. He will continue physical, occupational, speech, and feeding therapies. We will keep climbing up the stairs every day. Ben will still start school in September. Ben will carry on with being a schmoopy woopy sweetie baby boo boo punkin' pants.

So, as Landy and I were preparing to leave the Genetics office following our most recent visit, Christi mentioned that she and Dr. Calikoglu always discuss the day's upcoming appointments. Back on that day when Ben's actual testing took place (the day when I finally relented and agreed to go back), Dr. C had softly told her, "I think they are ready now." I love that woman.

Looky here! I managed to slip in something uplifting and adorable: