Petty Syndrome

This will be a short update as it is approaching 9pm and it’s been a long day. Nora is asleep but she has not been such a happy girl this evening. She is not a fan of how her little legs feel after they get a shot in each thigh. That was this morning, along with our appointment to check on her weight and to review our UVA trip with her pediatrician here. We felt grateful to see the numbers on the scale going in the right direction again. She weighed 6lb 9oz this morning. We will continue to weigh her at home and don’t have any scheduled appointments now for a month. That feels good!

I’m attaching two things here for anyone interested. One is a collage of pictures of Nora and Kali. Nora is really enjoying looking up at who is holding her and her smiles are particularly sweet for her big sister. The flowers in the middle signify a turning point in our year – time to venture outside more with Nora. Kali had helped us determine when we would know that Nora could come outside and her criteria was when we saw “three yellow flowers.” The daffodils were a welcome site for this family. And we have enjoyed a few more times outside lately – including a short family walk the other evening. We look forward to more of those times in the future.

The other attachment is the article describing the syndrome Nora has been diagnosed with by the geneticist at UVA. I wasn’t sure whether or not to send this on but know that some of you will be interested in more detail. Jason and I have both been surprised at how we have experienced some relief and even hope in having a little more information. Also, the new things Nora is doing all the time can’t help but encourage us as well (she has discovered her toes and knees!).

It is clear from talking with several doctors and persons that work with feeding issues at Kluge Rehab in Charlottesville that it is important that Nora be with me as much as possible for the foreseeable future so that she can breastfeed on demand. So the next steps for us are figuring out how to juggle my work and our family life in a way that is sustainable and works for all involved. I imagine being quite tired in the coming weeks. On the flip side it has been good for me to have more time with Nora to get in a groove and rhythm with her care. I feel like we are understanding each other much better and that is a relief.

We’ll be in touch more later, Janelle

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”

Weight going the wrong direction!

It’s a quiet, cloudy afternoon here in Keezletown. Quiet because Kali and Jason are at the school they volunteer at Tuesday afternoons and cloudy because it sounds like some thunderstorms are on their way to us later today.

Nora is sitting on my lap watching me type and I imagine this will not last too terribly long. She has been content today, even with a morning nap disrupted by our scheduled doctor’s appointment. Our good friend Kristin came down the hill with her baby daughter Phoebe this morning to play with Kali so that Jason and I could go alone with Nora to the appointment. We both felt the need to focus on our time with Dr. Ashton and to also be able to express how we felt depending on what the scales showed. It was a wise decision.

Neither Jason nor I knew what to expect but we were both pretty sure there had been no monumental growth in the past two weeks. Nora has been consistently eating very little from the bottle on the days that I’m at work and this has been frustrating and discouraging. While we think she attempts to do some catching up on the off days with me, we are pretty sure she is not able to make up the difference.

She weighed 6lb 6oz today, down 1 ounce from her weight about 2.5 weeks ago. While this is not a lot down, it is definitely moving in the wrong direction and worrisome to us and her pediatrician. While it may be there is something going on that is completely out of our control and that no amount of breastmilk will solve, there are a number of things we are to try in the coming days/weeks. Jason and I aren’t yet convinced that it isn’t a matter of Nora failing to consume enough, so we are open to experimenting with the feeding program. We will begin fortifying the breastmilk Jason feeds her in bottles. Jason will also be trying alternative methods of feeding – cup, spoon, syringe. We are also to start weighing her before and after feedings with me to try to assess what she is taking in (this is something not widely done anymore and is probably not best for already super anxious moms, but we’ll see if it gives us any information that is helpful). We go back again in 2 weeks for her next RSV shot and immunization and will see where we stand then. We are also starting her on a very small dose of Zantac to help with reflux.

In the meantime we have an appointment next Tuesday in Charlottesville – a follow-up with the neonatologists and then with the neurosurgeons/plastic surgeon about the possible/probable surgery Nora will need on her skull later this spring or early summer. I hope to connect with the geneticist at UVA yet this week via email to see if we might also be able to connect with him when we are in the area next week. Kali will have a fun day with Kristin and Phoebe in the morning and Aunt Karen and Aunt Sue in the afternoon.

Well, Nora has blown out in her diaper while she sits here so I better take care of that before continuing. That is probably enough of the raw data for you all anyway. Before I end the summary on Nora’s health, I should say that she continues to do new things. She is getting very good at her “tummy time” and is lifting her head and moving it to both sides. She was very happy at the doctor’s today cooing at the butterflies suspended from the ceiling. She is getting easier to do things with (like the fact that I’ve typed a page with TWO hands with her sitting on my lap) and sometimes enjoys carting around in the Snugli baby carrier that we have. Sunday was another warm day here and Kali and I managed to get three loads of laundry hung out and a walk to the mailbox with Nora in tow. Warmer weather is no doubt going to provide some relief for all of us!

The last several weeks have been trying emotionally for Jason and I. Where are we headed? How do we sustain ourselves in the midst of the uncertainty? How can we make this time as positive for Kali as possible, and for ourselves? How do we find beauty in the pain, joy in the sorrow, and hope while experiencing grief and feelings of loss? And how does one get more sleep in order to better do the above?

I do feel like Jason and I have both had times of self-care lately that have been helpful for us. I’m not sure if Jason would frame it that way but he has had several long outdoor work sessions which I know is always rejuvenating for him. I’ve enjoyed a walk, lunch and some phone conversations with friends as well as a massage that was paid for as a gift from another friend. I’ve had chances to air raw feelings with others which is always a start to healing for me and to moving beyond those feelings.

I am still SLOWLY making my way through Traveling Mercies by Anne Lamott. This afternoon I was finishing a chapter in which she reflects on her changing relationship with her mother as she ages, and on the eyes with which her son Sam views his grandmother. While our journeys are very different, I found myself connecting with some of her reflections and helped by seeing someone else sharing the range of their emotions experienced in one’s journeys with family. I’ll end by sharing a few quotes with no commentary and you can get the full story by reading the book and maybe some more of my thoughts connected to them will come in a later update.

For now, Nora is ready for attention and our small group will be joining us for dinner in about an hour. Jason called recently and after a quick stop at the library to look for some more Amelia Bedelia books at Kali’s request they will be on their way home. The wind is picking up and daylight is waning.

Blessings to each of you, Janelle

“Sometimes, holding her soft warm hand, I want to take it and hurl it to the sand beneath the wheels of the oncoming lifeguard’s jeep. But oh, God, the trust with which she keeps holding it out for me to take! Without someone to steady her, she cannot find her balance. And I guess when you take away the resentment and disappointment, it’s that simple. It is what we do in families: we help, because we were helped. Now when I look at the picture taken on the Fourth, my stomach aches with a miserable sort of poignancy because she is so friendly and eager to please. For just this moment I look like I am in love with her and she with me. For this one moment, we are. I am learning very slowly to savor the minutes between us that work, that cut through my life long hunger for a more perfect mother…Who was it that said that forgiveness is giving up all hope of having a different past? The pictures do help sometimes, and I’m gentler with my mother, more understanding. They help by making me sad at how hard we all try and how far short we fall, and the sadness softens me for love. I go around trying to do better by her, trying to be God’s tender hands and eyes…I tell you, families are definitely the training ground for forgiveness. At some point you pardon the people in your family for being stuck together in all their weirdness, and when you can do that, you can learn to pardon anyone. Even yourself, eventually…I keep watching. Sam takes his grandmother’s hand. I feel like sobbing with grief that my mother is old, that she won’t always be around, and with despair at what an erratic daughter I am. But it’s not a big deal to Sam. He just wants to help her find her balance.”
Anne Lamott