Last week, we took Sammie B to see a geneticist. . . because the MRI ruled out any structural brain causes for Sam's low tone, our neurologist wanted to move to the next step in the process of (hopefully) ruling things out. So, we went. And the appointment went well. I'm pasting the email update I sent to our families later that night, which I wrote, B read, agreed with my interpretation of things, and I sent. We always re-cap after a doctor's visit. We need it. After we leave, and are in the car together, one of us always says, "so what I heard was x...." It helps. Depending on our moods, I think we can hear things in different ways, and sitting together and talking about our conversations with the doctors allows us to interpret everything, make sure we are being thorough and that we agree with the doctors, etc. Of course, being me, after that, I've had to re-read it 15 or so times because the glass-half empty me starts re-interpreting things and allowing panic and fear and worry to creep in . . . but here's how I felt about the appointment last week right after it:
We saw the geneticist today (really really liked her), and it went well. We heard a lot of what we've already heard (which is comforting) which is that this really seems to be "just low tone." The geneticist (both the doctor herself and a resident) took TONS of measurements of Sam and observed her as we went through the OVER 2-hour appointment, and basically concluded that there's absolutely no signs pointing to any genetic "syndrome," and there's no need to run a battery of genetic tests yet. So, now we move on to testing a few other things (which still could have genetic causes). Basically, the doctor said (which we already knew) that to conclude that Sam just has "benign congenital low tone" we need to rule other things out . . . that diagnosis is a diagnosis of exclusion. So, we've already ruled out any structural abnormality of the brain with the MRI, and now ruled out genetic "syndromes" by this appointment, so that leaves us with two other possibilities -- something with Sam's muscles (a myopathy) or a metabolic thing. We had blood and urine sent off to the lab today to check for metabolic things, and Sam will have an EMG to look at her muscles in the near future. There are some sort of 'nasty' (both my description and the doctors) muscular and metabolic things that cause low-tone, but fortunately, the doctor said she doesn't think ANY of those are what we are dealing with . . . Sam just isn't presenting the OTHER issues that would come along with the more serious conditions . . . she said generally babies with serious muscular myopathies are in and out of the hospital for their first years with various issues and complications (feeding problems, breathing problems, neither of which Sammie B has had), and babies with serious metabolic disorders are generally very very sick in cycles, and have a really tough time bouncing back, which Sam does not. She's only had a few colds and has always bounced back super quick. So, bottom line that we walked away from the appointment with is that we are going to check out these two other avenues (muscles, metabolic) but that even if something turns up, its likely not serious. The word "myopathy" scared me a bit (because I've googled!) but I asked the doctor, "If this turns out to be something with her muscles, are we talking about something that would mean she'd never walk?" And, the doctor said, without hesitiation, "no, I really don't think we are dealing with that situation here." And, from what I've also read, many myopathies (muscle issues) and metabolic disorders can actually be controlled/helped with changes in diet, exercise, and basically . . . people still live full, healthy lives.
Now, I'm not catholic, but I'm giving up Google for Lent. Seriously. No gain.
As we get each of these appointments behind us, we feel better and better. Still some stones to keep turning, but we just keep hoping we find ourselves right back where we started . . . with "low-tone" and a "wait-and-see" approach. As much as WE hate the waiting and seeing, I think we are finally seeing that the "wait and see" is much more comfortable and a lot less scary than some of the alternatives, like having some sort of diagnosis or condition or label that might somehow define for us what waiting will yield. Without a label, the possibilties are limitless, and we hope we can keep remembering that. Suddenly, through all of these appointments, with ruling things out, and hearing such consistent responses from so many specialists, we are slowly becoming more comfortable with the unknown. slowly. and not always willingly ;o) Not an easy road, but one we will keep on traveling with our sweet Bean by our side!