Diagnosis???

I am writing this minutes after our arrival home from another day of appointments at UVA. It sounds most appealing to spend this time slouching in a chair and allowing Kali to gorge herself on pbskids.org while Janelle and I and Nora recover from the six straight hours of physicians compassionately and competently puzzling over our family’s future. Kali spent the morning with our friend and neighbor Kristin Yoder Kaufman and baby Phoebe, and the afternoon with her aunts Sue and Karen, so she’s doing just fine.

The reason I’m not slouching in a chair is that I’m not sure I’d be able to get myself moving again soon (at least not with a good attitude), also we know many interested persons are curious about the decisions made at said appointments, and furthermore it is good for us to make a record of these days while they are still fresh in our minds, and we may as well include you.

I’ll write this like a newspaper article, with the big news first and the details to follow:

Though Dr. Braddock left the pertinent article in his office and couldn’t be convinced to recite the characteristics by memory for fear of contracting foot-in-mouth disease, he thinks that he has found a known genetic category for Nora’s condition (he will e-mail us the details as soon as possible). As was suspected, her presumed category is not at all populous, with the total number of reported cases being in the single digits. We have no idea what the implications of this are, and it’s possible we will be essentially making it up as we go along for many years, but I’ll say that it should not be assumed that because her condition is extremely rare that it will be extremely grave. Dr. Braddock will be trying to contact the authors of the papers he’s read, even though some were quite dated, to see how those kids did as they matured. Incidentally, it seems Nora will be the subject of a presentation by Dr. Braddock this August to some sort of assembly of syndrome-oriented geneticists from all over the world. He feels comfortable with this diagnosis, but has not yet convinced his mentors or a few key peers, which helps me remember that this could actually be still the incorrect diagnosis. Indeed, some of her symptoms, namely the underformed skull bones, are not necessarily characteristic.

Because of those underformed skull bones and her continued low weight, the neurosurgeons are not going to attempt her skull surgery at this time. And though they don’t yet know why this is so, they are surprised by the lack of asymmetrical distortion in her brow line. They are thinking that it will be best to keep seeing her periodically and only operating if and when conditions dictate and/or allow, which one doctor hazarded a guess as being around the age of 18 months.

So we don’t have to get her ready for surgery in June. That is a bit of a relief. Now, if we could just get her to grow!

Here’s the plan as far as that is concerned: Starting tomorrow (for this week at least), Nora will be going to work with Janelle so she can nurse directly from the breast 24/7 instead of needing to undergo the stressful hassle of trying to suck it out of a lukewarm, rubber contraption that doesn’t fool her for a minute. From our keeping pretty careful track of her eating over the past week, it is obvious she eats much better from the breast. Why am I not surprised? We are quite grateful for the flexibility shown to us by CJP, and Janelle’s supervisor Lynn Roth in particular, in allowing us the chance to give this interim solution a try. Also, the early intervention folks at the Community Services Board may help us try to improve the bottle feeding situation.

If neither of those approaches work, we’ll probably have to spend a few days in Charlottesville at the Kluge Child Rehab center working intensively with feeding specialists. Apparently this is something they are really good at.

Failing that approach, the next step would be a feeding tube. Dr. Braddock encouraged us to consider the directly-into-the-stomach kind instead of the nasal or oral route kind because even though their installation is more invasive, they are supposedly not too complicated or risky, and the resulting logistics are, in his experience, much more conducive to healthy development and family life.

Other than that, she’s fine. Really. She’s probably a little behind on her development, according to our regular pediatrician, but that’s supposedly to be expected when she’s got so many fish to fry at once. We anxiously await Dr. Braddock’s report that will hopefully help to prognosticate a little, but in the meantime he encouraged us to know that she seems to be doing well aside from the weight gain and other growth issues, insisted that we hear his compliments on our parenting, and prohibited guilt (even for the Dad who can’t get his baby to take a bottle). He also noticed her first tooth showing up under the gum! However, I noticed on the CT scan we saw on the neurosurgeon’s computers that a section of her front upstairs chomper buds seems to be missing. Dr. Braddock seems to think that means those teeth won’t come in, but it’s unclear to me whether that applies to adult teeth also or only baby teeth.

I would like to be able to neatly sum up this update for you, but I have no idea where to start. We continue to appreciate all of the caring and support that’s being shown to us. It makes a huge difference. I wish I could tell when we’ll be standing firmly on our own eight feet, but all I can say so far is that it’s not quite yet, but we’re doing our best to get there as quickly as we can.

Jason (see p.s below)

I, Janelle, just finished up Traveling Mercies yesterday and wanted to share one more quote before shelving that book until the next time. As Jason said we are very grateful to those who continue to share aspects of this journey with us. I’m also attaching a picture of our first walking iris bloom which we were gifted with yesterday.

“This is the most profound spiritual truth I know: that even when we’re most sure that love can’t conquer all, it seems to anyway. It goes down into the rat hole with us, in the guise of our friends, and there it swells and comforts. It gives us second winds, third winds, hundredth winds. It struck me that I have spent so much time trying to pump my way into feeling the solace I used to feel in my parents’ arms. But pumping always fails you in the end. The truth is that your spirits don’t rise until you get way down. Maybe it’s because this—the mud, the bottom—is where it all rises from. Maybe without it, whatever rises would fly off or evaporate before you could even be with it for a moment. But when someone enters that valley with you, that mud, it somehow saves you again. At the marsh, all that mud and one old friend worked like a tenderizing mallet. Where before there had been tough fibers, hardness and held breath, now there were mud, dirt, water, air, mess—and I felt soft and clean.” Anne Lamott

ps. Below is a portion of the email we just received from Dr. Braddock. Very fresh news…

“Janelle and Jason, It was a pleasure to meet with you and Nora today. I am sure that you all must be exhausted from the long day! I apologize for not having the following information with me during the visit but wanted to share with you what I have found. My leading thought for diagnosis for Nora is the condition described by Elizbeth Petty, Renata Laxova and Hans-Rudolf Wiedemann in the American Journal of Medical Genetics (volume 35, pp 383-87, 1990). Unfortunately I do not have an electronic version of the article, but will copy and send you a hard copy. This condition has the wrinkled skin, poor growth, hypoplastic (underdeveloped) nails and digits, abnormal hair growth, umbilical hernia, small lowset ears, thick eyebrows and a thin calvarium (skull). The two cases are females; ages 5 and 40. Normal intelligence was noted…Stephen R. Braddock, MD”