Well, no, duh...It's officially SLOS

So we got our test results back today. Harper has Smith Lemli Opitz. 7DHC = 188 micrograms, cholesterol (via gas chromotography) = 15 ml/dL

More on that later... but gives me an opportunity to share a link to this essay sent to me by another mom who had to deal with a tough diagnosis - hoping it speaks the truth:

Diary of a Mom: Welcome to the Club

The drive to the NICU always seems really long. It's not - no matter which route we go it takes about 20 minutes from Shea's school. But it feels like it takes forever.

Time in the NICU, in contrast, goes fast. And is this odd blend of manageable chunks and frustrating limitations. On the manageable side, we spent time with the speech therapist today, and Harper seemed to be making progress on her suck. Her tongue is very short and tends to bunch in the back - apparently common in SLO - but she gave us a couple of good sucks, bringing her tongue forward.

We also met with the physical therapist, about stretching exercises for Harper's feet and other physical therapy. On one hand, it seems pretty straightforward, and Harper has good flexibility, even in her poor, damaged little feet. Although we are still (frustratingly!) waiting on an orthopedic consult, both the neonatologist and the PT thought surgery was more likely than casting.

The frustration hit when I realized that a lot of the stuff they want us to do with Harper was stuff I did naturally with Shea at home as a newborn, or in baby yoga. Tummy time, hand stretching, etc. It all feels so forced and artificial in the NICU environment. Really made me want to unhook Harper from all the wires and just take her home.

Speaking of wires - Harper is still on oxygen, and they have been unable to wean her off. She's de-satting constantly, and her O2 seldom gets above the low 90s. Cause of this remain mysterious - more repeat chest x-rays showed nothing obvious, no signs of infection in her bloodwork, and they're repeating the echo, but it seems way too early for heart failure to be a problem. The speech therapist postulated her tongue may be causing some kind of physical obstructive issue, so we're going to experiment letting her sleep on her side some, to see if that helps.

She has a very cute new piece of tape on her nose to old her oxygen cannula in place.

I am sorely tempted to decorate the cotton puff holding her IV in place on her head. After a little skin time with mommy, she opened her eyes a bit several times, although we didn't actually manage to catch it on film. Well, on digital pixels. You know what I mean...

Test results are trickling in - confirmed the XY, presence of the SRY gene, nothing terribly exciting in the LH/FSH results.

Now about those confirmational cholesterol results...

Lou and I literally received the phone call from a resident about the early arrival of the 7DHC and cholesterol results as we were walking into an appointment with a counselor (we though if ever a time called for seeking professional therapy services, this was it...)

My first reaction was "finally!" Now we can get things moving with contacting Dr. Porter at NIH and getting a read on the severity of Harper's disease and what happens next. Then I spent time using up lots of tissue in the counselor's office. It wasn't until after that that it occurred to me that the cholesterol sounded low. Really low. And that that is bad news.

Doctoral level scientist that I am, I hit PubMed. So what do those test results mean?

We have no idea.

Well, not entirely true. The stupidly high 7DHC is what confirms the diagnosis of SLOS. Normal levels are something like 0.1-0.3 - ours, I'll remind you, was 188. So yeah, you might say that's high. But there's not a lot of correlation between clinical outcomes/symptoms/severity and 7DHC.

Cholesterol, on the other hand, is where it's at when it comes to measuring severity of SLOS. Or is it? Lots of the literature matter of factly states that anything under 18-20 mL/dL is associated with a high rate of infant mortality.

("How do you feel about that?", Lou asked. Crying, I told him I must be more bonded with Harper than I thought, because it makes me very, very sad.)

Other references suggest it's really 10 that is the threshold for not going to live past the infant stage. What I perhaps most believe is the review article that suggests that while the lower the cholesterol the worse the severity and likelihood of premature death, that is really true mainly in cases where you also have serious multi-organ system abnormalities.

That actually, so far as we know, doesn't seem to apply to Harper. She's got a (relatively mild) heart defect. And her reproductive tract is screwed up royally. But kidney, liver, and GI tract all look good. She's still tolerating her feeding well, although we're not pushing her too hard with it. Peeing and pooping totally normally. Her motor control seems pretty good and her hypotonia doesn't seem too bad.

So maybe the cholesterol finding won't be that significant. Although who the heck knows what's going on in that tiny little brian. We won't know until we talk to an expert.

As usual, it involves waiting - waiting to speak to Dr. Porter. The Wonderful Wizard of SLOS.

As for me, I am finding each day to be sadder and sadder. Combination of postpartum depression and what Lou refers to as "the shit sandwich we've been handed," I suppose. (Don't freak out, readers, I'm seeing a therapist...)

I cried after I read Shea his bedtime story of The Little Engine That Could (which he recited along with me from memory!) and glanced up to see the empty crib, with its brand new sheets and quilt, staring back at me.

I cried when I was forcing myself to eat a roast beef sandwich for dinner, because my kitchen is a disastrous mess and I'm just too tired to care. And because people keep asking me how I'm recovering from surgery, and I just want to scream, "Who cares how I'm doing? My baby is broken! My baby is sick, and I can't fix her. My pain doesn't matter compared to hers." And because it hurts when someone says, "Congratulations." And because the other parents get to take their babies home from the NICU and send back happy pictures showing how well they're doing. And those pictures are EVERYWHERE.

I cried because my breasts hurt, and I don't want to pump for the tiny baby who isn't here, and yet I do, because breastmilk is high in cholesterol, and maybe it will help.

And when I'm not crying I'm thinking about the calls that need to be made and the life that lays ahead and wondering if there was really any joy on the other side of the diagnosis, as people keep telling me.

I think Harper relates.