My son had his 6 month follow up visit at Children's Hospital, in the biogenetics department. I had hoped for some answers, but that's just not how we roll.
The genetics doctor is wonderful. At this appointment, he took photos of B's outstanding features, to share with his colleagues. He also suggested that we see a connective tissue disorder specialist at UW medical center. This doctor feels strongly that the specialist will be able to more quickly rule out which disorders should or shouldn't be tested for.
Here's the thing about genetic testing.....you don't get to just test ALL THE THINGS. Because there are millions of *things*. You must have a clear direction to shoot toward, because it is like looking for a needle in an enormous hay stack.
This process that I started 6 months ago, to answer questions about Braeden's dislocated knees, is going to be very long, and very tedious. It feels like I opened a Costco sized can of worms. The genetic testing that was done when he was 2, was inconclusive, and barely scratched the surface. At that time, it was explained that they were testing for the *big* stuff only, and if those tests showed nothing, we would have to wait for more symptoms to appear. Enter the ACM1, and then the knee dislocations.
One of the Syndromes the doctor mentioned yesterday as a possibility, is Shprintzen-Goldberg syndrome.
Here is where I admit one of my *quirks*. Well....it's a coping mechanism. After these appointments, I am basically hamburger-brained for a couple of days. I am unable to flood my gray matter with any more information for a few days after. And then, I have to completely psych myself out to dive into the information. There's a very specific reason why....*deep breath*.
It takes me a week or two, to prepare myself to read about a possible diagnosis, because I know there's a chance I will read the phrase "shortened lifespan". I know that I need to have information like that, but it is absolutely terrifying to know that I might see that in one of the diagnosis descriptions. This is one of my #bravein2017 *things*. While I wasn't brave enough to delve into the syndrome description myself, one of my wonderful girlfriends did. I'm happy to report, there were no indications that this syndrome itself causes a shortened lifespan. Yes, I cried with relief when she told me.
Also part of being Brave in 2017, is admitting how much that stuff scares me. So here I am, with trembling fingers and tears in my eyes. Braving this shit UP.
Another piece of this appointment, was more blood work and a urine sample. The doctor wants to rule out things like mitochondrial disorders, liver function problems, and digestion problems right away.
How do you get a urine sample from a kid in diapers? Let me tell you.....it involves 4 apple juice boxes, a toilet receptacle, 3 cups of water, a public restroom, and a mom and grandma waiting 45 minutes for it to happen. I'm positive I said "Sit. Back. DOWN." more than 7,000 times.
Blood work? DEARGAWD. The office staff slicked B's arms down with numbing cream this time, and wrapped them in saran wrap. Since the urine sample took 45 minutes to attain, that was plenty of time to let the numbing action work. What was NOT numbed, was B's memory of having his blood drawn previously. There was an abnormally long wait to get into the lab, and of course that's when the battery on the iPad died. Once we finally got in there, B walked calmly to the door of the phlebotomy room......laid eyes on *the chair*.....aaaaaaaand bolted straight past it and out the doors. My mom and I coaxed him back, and got him to stand in the room. But he was not going to sit in that chair. The look of fear in his eyes KILLS ME. There's nothing worse. An extra set of beefy arms came in to help, and the four of us coaxed him into the chair. I told him over and over, that it wouldn't hurt like last time, because of the cream on his arms. He wanted to believe me. I held him back against the chair, my mom leaned over me and blocked his view of the needle, and held his shoulder. The extra beef held his opposite hand and kept his legs still, and the phlebotomist got that needle in and blood drawn so fast, I couldn't believe it when he was done.
But I will never forget any of the times I have looked my baby in the eyes and told him everything would be ok, and the needle pinch was going to be quick, and "it's almost over!! You're doing great!" While trying not to let my tears spill over. When my parenting is attacked, these are the moments that prove otherwise. I am there for EVERY appointment. Doctor, physical therapy, speech therapy, IEP, school psych evaluation. I have not once in his 16 years of life, opted out of being fully present for any appointment, and especially the unfun ones. I've slept in a chair next to his hospital bed, when he had brain surgery, and fought with a parent of another patient in the room over the damn thermostat! This is the only time I will ever publicly address that I am aware of the slander being directed at me. And to that, I say.....nothing. It is so absolutely absurd, misdirected, ridiculous, and MEAN....that it deserves NO space in my brain, beyond typing these words. Try walking a mile in my shoes. You'll beg me to take them back.
