Hooray, hooray, hooray!

We met with the geneticist today and it was all good news! He didn't feel there was anything to worry about genetically and didn't even order any blood tests (the main thing I was dreading after our last experience). He actually said that Annie does NOT have Pierre-Robin because, strictly speaking, she would have to have three characteristics -- not just the small jaw but also a cleft palate and another thing with her tongue (long medical word I can't remember). That's even more good news! His opinion is that Annie's small jaw is a result of restricted growth in-utero. (Warning: overshare of information ... but I have a uterine anomaly that can restrict growth. That's why I have multiple ultrasounds during pregnancy. Dr. Moeschler tied the growth restriction to that anomaly as a probable cause.) He feels that with the restriction removed (i.e. being born), her jaw will grow normally and "catch up" with her upper jaw over time. He said he can't say that with 100% certainty, but it's his opinion.

We went from the geneticist's office to Annie's regular two month check-up. Again, all good news. She is a whopping 9 pounds, 2 ounces now (finally surpassing her big sister's BIRTH weight) and made it to the 10th percentile. She is -- hooray, hooray, hooray -- doing great! She is smiling up a storm -- huge, gummy smiles -- and cooing back and forth with me all the time in little mommy/baby conversations. She has great head control and seems very strong for her advanced age of two months. (Ha ha.) Her eyes are as blue as Jamie's were at this point so it really looks like brown-eyed Scott and I will have two blue eyed girls, believe it or not. She still is not able to suck, but we have gotten into a routine with everything and we're hanging in there. Ninety to ninety-five percent of her nutrition is still breastmilk, so I'm happy with that.

Unfortunately, she's being uncharacteristically fussy right now so I'm not able to get some new pics uploaded. I want to get this post up right away, so I'll have to add the pics later. I keep trying to catch her smiling, but so far no luck ...!

One last hurdle to come -- her second echo is scheduled for Feb. 9th, one month from tomorrow.

Three Specialists in a Week!

I am sorry to have been so slow in getting another update posted. I think life would be hectic enough with the addition of another kid (it's hard to get used to saying "kids" or "the girls"!), but this time of year has made it even more hectic. Thank goodness for on-line shopping, that's all I can say! Anyway ....

Several weeks ago, we met with a pediatric neurologist. He said that he sees many babies who are referred due to suck/swallow or feeding issues. He checked Annie out and felt that her muscle tone was good and that she looked good otherwise (strength, etc.). Before the appointment, I had become convinced that Annie's feeding issues were solely anatomical with her lower jaw formation, but he didn't agree. He felt that Annie is having trouble coordinating everything as well, but it's not anything that warrants an MRI at this point. He felt that the MRI would, in all likelihood, come back normal so it isn't worth the risk of sedation and all of that. (Fine by us.) The other option -- if we did find something -- wouldn't change how we're handling Annie at this point (working with the special bottle to feed her, etc.) so, again, it's not worth doing anything else at this point. I gathered from him that it's a wait-and-see game for him. We didn't make a follow-up appointment now, but we'll wait to see how things develop with Annie over the next couple of months.

The ENT guy seemed to be concerned mostly with making sure that Annie's airway is not compromised by her lower jaw formation. He said that her breathing is good and there is no reason to be concerned about that. He found fluid in her ears, so he wants to check on that in 6 weeks. She didn't have an ear infection; rather, he felt that it was a drainage issue that could be tied to her anatomy/jaw positioning.

The lactation consultant in Concord recommended the appointment with the ENT doctor as a means of getting to a speech pathologist. Through both of them, we met up with a speech pathologist who works for the state. Her specialty is suck/swallow issues, especially with preemies and newborns. She came out to our house a couple of days after we met with the ENT and she was awesome. She definitely was the person with whom we needed to connect! She worked in a NICU for 10 years and just seemed very knowledgable and competent. She, too, talked about Annie's airway, saying that she was doing a great job "protecting" her airway when she eats. Overall, everything she had to say was positive as far as how Annie is coping with her anatomical challenges. We talked about the coordination issue and she seemed to think that it was a tough call -- would Annie have the coordination issue if she didn't have the anatomical issues to deal with? No one can know that just yet.

The speech pathologist did put a name to this and said that Annie has Pierre-Robin Sequence. The sequence, as far as I understand it, is just the lower jaw formation. (At least that's about all it is for Annie. Some babies with PRS have cleft palates and require either feeding tubes or tracheotomies to help them breathe or eat.) Interestingly, in some cases PRS has been linked to issues or disruptions in the first trimester of the pregnancy. INTERESTING since we know that whatever happened with Annie's heart happened in the first trimester. In fact, the speech pathologist was glad to hear that Annie's heart had already been checked out -- I guess there can be some link there to the development that occurs in the first trimester. (I get in over my head on the science very quickly -- my apologies to our doctor and medical friends!)

The thing with PRS is that it is linked to other issues in about 40% of cases. So ... you guessed it ... we're on to another specialist. We'll be seeing a medical geneticist sometime in the near future so that full genetic testing can be done. The most common syndrome linked to PRS just doesn't fit for us -- I think we would have seen it elsewhere in our family by now and the symptoms just don't add up for Annie -- so I am cautiously optimistic that the genetic testing won't reveal anything too exciting. That could be denial at this point though.

Meanwhile, Annie's chromosome analysis and other blood tests have all come back normal so far. She continues to gain weight, albeit slowly. She was six weeks old a few days ago and we weighed her at a whopping 7 lbs. 12 oz. Still, she is doing everything she should be doing (except nursing!) and seems alert and happy. She's very calm and only cries when she's really hungry, and that's not very often. We still have to wake her up or feed her by a schedule, because she rarely lets us know she's hungry.

Jamie (since a few people have asked) is still in love with being a big sister!! She thanks me just about every day for having her. Out of the blue she'll say "oh, thank you, Momma, for Annie!" (Seriously.) She's having a hard time not having her every whim and desire met at the drop of a hat, but mostly she blames Scott and I for that. Annie still can do no wrong as far as Jamie is concerned, she just wishes she wasn't sleeping and eating all the time so that she could 'play' with her more.

The photos are from Annie at one month (on the red blanket with hearts from my sister Lori) and on the plane on our way to St. Louis to surprise my father for his 70th birthday. Jamie's pic is from a few weeks ago. She decided to 'pretend' to be sleeping, which lasted about one minute before she was really asleep (of course).

Bahama Mama & Other News

I said life had been busy, but it was news for another post. As it turns out, we've had a bit of a domino effect and still need good thoughts for our sweet new girl.

It started with jaundice, which landed us in the other hospital across town for a night. (We referred to Annie as Bahama Mama whenever we put her 'sungear' back on and put her back under the lights. She looked quite relaxed in there, as if she was just waiting for her margarita to appear.) Her bili count was quite high (22) and we were told initially that we would have to be in the hospital for 2 -3 days. At the last minute (and right before my friend Nikki showed up with treats and a stack of magazines for me, in anticipation of a long haul in a boring hospital room) we were told we could go home just a day after we had been admitted. Annie's bili count came down to 13 and we were sent home with a "Wallaby" light blanket to continue getting her bili count under control.

We spent Tuesday night (11/7) in the hospital, and got home late Wednesday night. In the hoopla of getting settled back at home and getting Annie wrapped up in the Wallaby, Jamie informed me that something hurt ... that she had "Spicy pee! It's SPICY!" Well, that's about the most accurate description of a UTI as any I've ever heard, so I knew immediately that Jamie would need to see her doctor on Thursday when we took Annie in for another blood test. By that Thursday morning, I realized I had a sinus infection, too. Luckily, we all have the same doctor so it wasn't too convoluted to have our sad trio seen. When it rains, it pours! Antibiotics for two of us and a stable bili for Annie and we seemed to be headed in the right direction ....

But ... it's still been a bit of a rough road with Annie. We thought she was tired from the jaundice (a side effect) so we had to work incredibly hard to get any food into her. Nursing didn't seem to be going anywhere. To make a long story as short as possible, we thought she had come out of it last week (the week of 11/13), but a weight check that Friday showed she had lost four ounces over the course of the week. Our little peanut was down to 6 lbs. 3 oz., a full pound less than what she weighed at birth.

She obviously was not nursing effectively, raising all kinds of questions as to why. This past Monday, we had blood drawn (from her arm -- much worse than the 8 heel sticks for all of her bili tests!) for genetic testing and chromosome analysis. We expect the results sometime mid to late next week. We have also made an appointment for her to be assessed by a pediatric neurologist, as ineffective sucking can be a sign of neurological problems.

In the meantime, I went up to Concord to meet with a highly recommended lactation consultant. She immediately switched us to a special bottle that helps Annie eat. The major concern is her jaw construction. I joked on my way out of the OR that Annie's second chin had swallowed her first one, but it turns out that it may be something more serious. Her lower jaw is substantially smaller than her upper jaw, something that can be a sign of genetic issues or larger syndromes. (I have mentioned the jaw thing to just about everyone who has looked at Annie. The only one who really commented was one of the pediatricians during our second hospital stay. She agreed that it could be a sign of something larger, but usually it was seen in conjunction with other symptoms or physical abnormalities, none of which Annie has.) The lactation consultant and another nurse who took a look at Annie suggested we see an ENT specialist to evaluate her jaw and suck/swallow issues. We now have that appointment arranged for Wednesday of next week.


The concern now is getting Annie to eat, gain weight, and get her strength up. The new bottle seems to be doing wonders, as she has gained six ounces by our scale in the last four days. Meanwhile, we are back to worrying about our girl and wondering what -- if anything -- is going on over and above the physical formation of her jaw. The research seems to say that a lot of children born with small lower jaws/recessed chins grow out of it all on our own. We are hoping that will be the case with Annie, but we're glad to be doing the bloodwork and extra doctor visits at this point. It's better to know what's going on sooner rather than later.

This girlie is not going to let us rest just yet ... so please keep her in your good thoughts and prayers. Scott and I are doing our best to manage her feeding schedule around the clock (Scott is awesome with her and keeps track of everything so my overtired brain doesn't have to!) while still having energy and patience for our rambunctious Jamie. (Jamie still loves being a big sister three weeks into it, but she definitely is aware that life has changed! She has learned, too, that there are times when Momma can't jump up and run after her and is taking a wee bit advantage of that.) Thanks to my mom and dad being here for a few weeks, my friends helping out, and the Thanksgiving holiday, I have had a lot of help. Next week will be a big one, though, with Scott at work all week and me on my own ... outnumbered by the little ones!

I Wasn't Crazy After All

Thanks to everyone who e-mailed to let me know they had seen my mysterious disappearing post! Apparently, it posted that night but then disappeared at some point in the next couple of days. (As I mentioned before, I didn't even get a chance to look at it for several days, so I don't know when it disappeared or, much less, HOW it disappeared!) But thanks to the kind folks who wanted to assure me I wasn't that doped up in the hospital and didn't hallucinate the fact that I posted the echo results late that Friday night!

Sorry again to anyone who was waiting for news. We appreciate the concern and certainly didn't mean to make anyone wait for the good news!

~Ross

Mysterious Missing Post -- Echo Results

Mysterious is a big word in our house right now, thanks to Jamie's favorite episode of "The Backyardigans." No more toys in our doctor's office is "so mysterious" as is anything she can make into a mystery! So I suppose it's appropriate that I have a bit of a blog mystery. Ok, so it was 3:30 in the morning (11/3) while I was still in the hospital and on serious pain medication ... but I still can't account for the update I worked on and THOUGHT had been posted. Of course, I can't even begin to recreate it or even remember most of what I said. I remember it being a bit schmaltzy at the end -- tired and doped up as I was -- with Annie, Jamie, and Scott all sleeping soundly in the room around me.

In any event, the gist of the post was the all-important results of the echo. Just a little something we've been waiting on for months ... hopefully we have gotten the word out via e-mail to just about everyone by now. For anyone who has been waiting on news -- I am so sorry! I honestly thought I had gotten a post done that night, but things have been a bit busy (a story for another post) and I haven't been back to the blog since then. I have no idea what I did, but somehow the blog didn't post that night -- the most important post of all!

In any event .... We had a bit of drama actually getting the echo done, but eventually the pediatric cardiologist came over to our hospital after a full day at his clinic across town. I told him it was terrible, but I really did hope we were wasting his time and taking him away from his family for no good reason! And that turned out to be the case, after a very quiet echo. (I know I was holding my breath, but I can't speak for Scott.) Dr. Johnson went through every part of Annie's little heart methodically, eventually granting us the best word I've ever heard in the English language: normal. NORMAL! Annie's heart appeared normal, normal, normal! There is no visible thickening left in the walls of her left ventricle; if anything, there was a tiny bit evident in the septum but nothing to worry about. There is a leak in her mitral valve, but he's not concerned about that. It's common in newborns from what I gather and he said he wouldn't even worry about another echo if it weren't for Annie's dramatic history. So, one more echo in two months to check on her mitral valve ... but still, all glorious good news.

It turns out you can feel when the weight of the world lifts off your shoulders! I slept better that Friday night than I had in months, that's for sure. Thank you to everyone who has hoped for and prayed for this wonderful outcome along with us. Our sweet Annie is here and healthy!!!!!!!!

Announcing Annelise

Annelise was born at 8:02 this morning with loud cries to let us know she was out and in the world. She weighed in at 7lbs, 3 oz. and is 19 3/4" long. The pediatrician and nurse proclaimed her perfect, with absolutely no concerns at birth. She was able to ride out of the OR on my chest and met her big sister, Mam, and Pap back in our room. She is pink and looks great!!

This afternoon the nurse detected a heart murmur, so we're waiting to hear more about that. We're hopeful that it's just a normal newborn murmur, but obviously we'll be able to discuss that with the pediatric cardiologist tomorrow. Not sure when the echo will take place, but I'll do my best to post as soon as possible ... with all good news!

Thanks to everyone who has called to check in. Sorry it took so long to get this posted! Things went well this morning, but I didn't sleep much last night and it's been a bit of a long day. :-) But as I sit here typing, Annie is sleeping peacefully in her Mam's lap. Hooray, hooray, hooray!

Tomorrow's the Big Day!

We're on for tomorrow at 7:30am! We'll post as soon as we can after Annie is safely, finally, happily in our arms.

Thank you to all of you who have expressed your best wishes and thoughts for tomorrow morning! We appreciate it and can't wait to share our good news with all of you.

Scott, Ross, and Jamison

Delivery Decision

I feel like a huge weight is off my shoulders! We are going to deliver Annie here in Manchester!!!

I had a growth ultrasound at my regular OB's office on Thursday and saw the doc on Friday. It has been 2 1/2 months since the last ultrasound in this office and wow -- what a difference. We couldn't see any bright spots in Annie's heart at all. Last time, her left ventricle was a complete, bright white circle. Everything else looks good, although she is much smaller than Jamie was at this point. They are estimating that she is about 4 lbs. 15 oz. right now, putting her in the 41st percentile for size. Jamie was never below 85th percentile, I think! If Annie gains the expected 1/2 lb. per week, she will be just under 7 1/2 pounds at birth. We'll see!

In any event, talking to my regular OB was the last hurdle in deciding where to deliver. She has seen the latest report from Boston and contacted the pediatric cardiologists here in town. (They have been receiving copies of the reports from Boston as well.) The cardiologists are willing to come over to Catholic Medical Center to echo Annie the day after she's born! That was the big question -- whether or not we could get a newborn echo done at CMC. With that piece in place, the next big question was about the worst case. IF something were to happen (as the cardiologist said in Boston "if this baby hiccoughs funny, they'll put her in an ambulance and send her here"), would I have to be separated from Annie? The answer is no. Dr. Johnson said she would either discharge me early so I could go to Boston with Annie or she would transfer me down to Brigham & Women's at the same time Annie is transferred. Everyone -- including Dr. Levine in Boston -- just doesn't think that's going to happen, but it's good to know that the worst case scenario does not mean being separated from Annie.

Soooo ... Catholic Medical Center it is! We are on for November 2nd: a mere four weeks, five days from now. The OB was happy to see another ultrasound at her office and ecstatic about how Annie is doing. We'll do one more ultrasound at the end of October, but we would have done these growth ultrasounds anyway because of other issues. Meanwhile, it was a bit of a jolt to be talking about delivery with Dr. Johnson and going over all of the precautions they're going to take to try and keep me from contracting a post-op infection (as I did with Jamie -- and I guess once you're colonized, you're colonized). It felt like a major shifting of the gears to be discussing that instead of heart stuff! Worrying about a little (ha, ha -- I know Mom is rolling her eyes at that one) infection seems silly after all of what we've been through the past few months. But I'll take the shifting of the gears any day, thank you very much!

Posting those Annie photos and closing out this blog is closer than ever .... Thank you to EVERYONE for the comments, inquiries, concern, prayers, and good thoughts. We are so grateful to everyone who has shown interest and concern and checked in on us. We feel very fortunate to have you in our lives. ~ Scott, Ross & Jamison

Non-stress test

I am falling down on my job as blogger! I got a few questions, so I knew I had better update the blog (thank you everyone for your concern!). The non-stress test last week (last Wed.) was 'perfect' according to the OB. Her baseline heart rate stayed around 120, with typical spikes when she was moving. The only time it slowed at all was right after I talked to her, in an attempt to wake her up!

Five weeks and counting .... Yes, counting trips to the bathroom at night, counting how many Tums I've had in one day, counting the times each day I think about napping ... it's all about counting!

Third Echo in Boston

We just got home from our third visit to Children's Hospital in Boston. We are happy to report more good news! Dr. Levine deemed the thickening of Annie's heart to now be 'virtually insignificant' and said that her heart function continues to look perfect. Once again (it's really a running joke at this point) Annie was not in the best position for Dr. Levine to get a good look at her heart, but she was able to see enough to feel comfortable in telling us how encouraged she is. (And when she made a comment about Annie not being in the best position, she was rewarded with not one but two STRONG kicks right where the echo tool was located on my belly.) In fact ... she doesn't feel the need to see us again before Annie is born! That has to be a good sign, right?!?

On a side note ... for most of the echo, Annie's heart rate was much slower than we have ever seen it before. It was still within the 'acceptable' range, but definitely on the lower end and much lower than they have ever seen it before. I just heard from my OB's office and they are going to go ahead and bring me in tomorrow to monitor her heart rate for a block of time, just to make sure nothing is going on there.

Now we really have to figure out where to deliver. The cardiologist is comfortable with us delivering here in Manchester. She was careful to point out that if anything does seem the tiniest bit out-of-the-0rdinary when Annie is born, though, they probably won't hesitate to send her immediately to Children's via ambulance. That would mean being separated from her until I was ready to be released from the hospital. Dr. Levine feels like the chance of something like that happening is very minimal, but wants us to be aware of it. So, we have to decide if we want to risk it for the comfort of delivering up here or not. All in all, I'm so glad this is the 'tough' decision we are faced with at this point! I'll take this dilemma over what we were offered two months ago (transplant, etc.) any day.

Overdue Update

Sorry it's been so long since I've posted anything. I didn't realize it had been so long until I got a few e-mails asking what was going on. We've been crazy busy with the end of summer and getting back into a schedule (Jamie now goes to preschool 3 mornings per week). And ... we haven't had much to report. I have been back to my OB here in town a couple of times and they have checked Annie's heartbeat. Her heart rhythm has remained strong and stable. Meanwhile, she is active and feisty and reminds me constantly that she is in residence!

The blood tests came back from Boston on the second titer for the coxsackie virus. I'm not sure about the biology behind this, but they did tell me that my titers were slightly higher than the original test. Apparently they weren't high enough to be considered a full-on infection, but I'm not sure if that means that I don't have the virus currently or what. I thought the question was whether or not I had the virus early in the pregnancy, but I'm not sure if these tests tell them that or not. I'll have to wait for my next OB appointment to ask.

We are back to Boston this Tuesday, 9/19. We will only be meeting with the pediatric cardiologist at Children's this time. (The perinatologist is going to wait to discuss the latest echo findings with the cardiologist to determine our next step; mainly, determining if I should deliver in Boston or up here.) Obviously, we are hopeful that we will see a huge improvement in Annie's heart on Tuesday! It has been four weeks since our last echo -- the longest span between any ultrasounds or echoes since June -- and last time we saw such an improvement after 2 1/2 weeks that it's hard not to be hopeful. Please keep us in your thoughts on Tuesday and we will post any news as soon as we get home.

Hope everyone is enjoying a wonderful fall! Thank you again for all of your e-mails and expressions of support, prayer, and love. -- Scott, Ross & Big Sister Jamie

Good day in Boston!

We had a good day in Boston today, thank goodness! We began, again, with an ultrasound at Brigham & Women's. As soon as the tech put a close-up of Annie's heart on the screen, I got Scott's attention (he was keeping Jamie entertained) because it looked so different to me from the last time. It was definitely less bright (the brighter it is, the more dense the tissue is) to our untrained eyes. You could still see some brightness down the heart's septum, but it definitely seemed less obvious than our last look.

We had a new radiologist this time, and he asked us to tell him what had been diagnosed and what the cardiologists had to say at the last visit. He was a character, but had good things to tell us. He said that if he were seeing us at B&W for the first time with no history of any trouble, he would not be "impressed" by this presentation. I told him we were more than happy not to impress him! We discussed the fact that it looked much less bright and less comprehensive (not involving the entire ventricle in a complete circle of bright white/thickened tissue) to us. He deferred to the echo we had scheduled later in the day, but said that he really wouldn't be concerned about what he was seeing. He also said that from his point of view, the heart function looked great. They also checked for growth and development in general, estimating Annie to be about 2 lbs. 6 oz. right now.

We went straight from B&W to Children's and met with the cardiologist, Dr. Levine. We told her the news from the morning so she was anxious to get a look at Annie herself. On the way to the echo room, she told us that she had just seen the 'baby' that was the only case she had ever had with anything like Annie's presentation. She had wanted to look up his echoes, but had been unable to remember his name. Lo and behold, he showed up in the clinic for his annual appointment a week after she met us! He's not a baby anymore -- he's five years old -- something I had been wondering about. (We had no idea how long ago this case had been, so we had no idea how long the child had been followed and deemed healthy.) Dr. Levine said that his heart does not show any thickening at all at this point -- and continues to function perfectly -- so that was even more good news.

The echo was quick this time since Dr. Levine had just seen us 2 1/2 weeks ago. Annie was in a completely different position, but still had a hand in front of her heart. Still, she has grown so much that the size alone helped out. Dr. Levine agreed that the thickening appeared much less comprehensive than it had at the last echo. She was able to confirm her suspicion that the thickening does not appear to be in the endocardium but more in the outer lining of the heart, so she's still saying it's not EFE. The thickening is definitely most evident in the septum, but the diminished nature of it in general made her even more positive about Annie's prognosis. She told us that she knew she had told us she felt 50/50 like this would turn out to be nothing to worry about, and today she said she would raise that to 70/30. YEAH!!!!!!

We talked a little bit about the positive blood test for coxsackie virus as well. She said that the retest they did this morning at B&W would help them determine if I had been exposed to the virus during my pregnancy. They know that the virus can cause cardiac abnormalities in fetal hearts, so if I have been exposed she could make a reasonable assumption that the virus caused something to happen with the development of Annie's heart. We'll never know for sure, of course, but it's the most likely culprit at this point. (She even told me that the virus can cause so much damage in children's hearts that they require transplants. I had no idea the virus could be that severe.)

So, we're headed in the right direction. We're happy the radiologist this morning wasn't impressed by anything he saw (!!), and we were definitely given reason to think positively by the cardiologist this afternoon. It was a good day! Thank you, everyone, for keeping us in your thoughts and prayers today. Hopefully, we'll be able to continue delivering good news and one day close the blog out with Annie's first photos!

Change to Boston Appointment

I received a call from the perinatologist at Brigham & Women's yesterday (Monday). Apparently, one of the blood tests they ran came back positive for the coxsackie virus. That virus is linked to EFE, but we're not operating under that diagnosis anymore. Still, it sounds like they don't know what to think. When Dr. Dunn called the pediatric cardiologist to discuss the results, they both decided they would rather see me (ok, Annie really) again sooner rather than later. So, we're back to Boston on Friday for a repeat of everything we did a couple of weeks ago: another ultrasound at Brigham, appointment with the perinatologist and a second blood draw, and another echo at Children's with Dr. Levine.

Annie continues to be active ... so active that it is hard for me to imagine that anything has gotten worse. Needless to say, I hope that we are not surprised unpleasantly tomorrow. Either way, I'm glad to have the echo moved up. Hopefully, Annie will be in a better position -- and goodness knows she has been growing -- and they will be able to get a better look at her heart. It will be the second study on the same equipment with the same settings, also making it easier for them to discern any difference from two weeks ago.

Right now I have to pack for the beach ... we are going to stay with a friend overnight tomorrow night and Jamie is asking if we're going to the beach NOW about every 10 minutes (really). :-) I will update the blog as soon as we get home on Friday to share any news.

Thanks!

Next Appointment & Jamie's Heart

We're headed back to Boston on September 5th for our next echo with Dr. Levine. It will be about 4 1/2 weeks since the last echo at that point, but we do have another ultrasound scheduled up here before then (8/22). I see my regular OB up here tomorrow, but I doubt there will be anything to report. It's just the waiting game right now ....

Meanwhile, Annie has been doing a pretty good job of making her presence known throughout the day. She hardly gives me a chance to start worrying about her! I had gotten a feeling that she was a calm baby (ok, maybe it was wishful thinking -- thinking I was due a calm one after my exuberant Jamie!), but I think I'm changing my mind. Annie can be pretty feisty, especially once I've crawled into bed at night. Uh, oh. Another night owl, maybe?!?

And today I took Jamie into see her pediatrician. I initially made the appointment the day after Annie's first echo, thinking I wanted to hear Jamie's doc tell me her heart is perfect just for my peace of mind. EFE has a slight genetic factor, but diagnosis is usually made between the ages of 2 and 12 months. We would have known by now if Jamie had EFE, without a doubt. And now that the doctor doesn't think it's EFE anymore and more likely some event within this pregnancy ... well, maybe I should have cancelled the appointment. I didn't though -- I just wanted to have her doctor listen and check everything out. Happy news, of course -- he said she's perfect. Her pulses are all great and there isn't the slightest hint of any sort of murmur or other heart problem. And goodness knows she doesn't suffer from any growth issues. She seems to be leapfrogging over size 4s and jumping right into size 5s.

Thank you, everyone, for your continued support and words of encouragement and friendship. They truly are appreciated!

Annie Photos

I realized suddenly during the first ultrasound in Boston that we were out of the sticks (no offense to NH -- I love living here and appreciated it even more after a day of Boston traffic!) and they might have the cool 3D ultrasound. The tech switched to it just to show us, but said that it was still early to get the kind of images you see advertising the technology. Scott says it's still a frightening image, but I think it's cool. (It's a look at her face straight on, with her hand up by her face on the left side of the pic.) I hope I can convince them to give us another peek later on. The second image is a regular ultrasound image of Annie's profile. Just wanted to share ....

The Word(s) from a Day in Boston

Loooong day, but very interesting. Once again, we are so grateful to be living right outside of Boston and all of the experts there!

We started our day at Brigham & Women's with an ultrasound. The tech didn't say much, but a radiologist came in to finish the test and she had some wonderful things to say. It started with "I've never seen this before!" -- something we're becoming accustomed to hearing. Again, what is so odd to everyone is that there is thickening of the left ventricle with no accompanying anomaly or dysfunction of the heart. It was great to know that no dysfunction had arisen since the last echo (something they are watching for) and just great to hear once again that the heart is functioning perfectly and even that Annie's valves "are beautiful." :-) In any event, the radiologist said that she felt as if this was something that Annie's heart was overcoming or working around -- I guess in some wonderful, mysterious, biologic sense. She went so far as to say that she thought "the prognosis for this baby is very good." That was WONDERFUL to hear from someone, and such a drastic difference from two weeks ago. The other thing that the radiologist talked about was recent advances in the treatment of EFE. She has only seen EFE with an accompanying cardiac anomaly, but she said in those cases the surgeons have been able to fix the anomaly and then just go in and "clear out the EFE." Great news, but it may end up being a non-issue ... keep reading!

We went from ultrasound to the perinatologist. Dr. Dunn was terrific -- very friendly and open, especially when it came to admitting (here it comes again) that she'd never seen anything like this before. She had the reports from the ultrasound folks in front of her and still decided to hop up and go over to ultrasound to see the photos herself, telling us she had to get "a picture of this in my head." She also told us that the radiologist whom we had seen was not only one of the most experienced on staff at B&W but also one that specializes in cardiac anomalies. She relayed that the radiologist had told her that if she had seen this thickening in a fetus at 18 or 19 weeks, she may well have thought that the prognosis was very grim. However, taking into account that we're almost in the third trimester and still seeing a perfectly functioning heart, she felt more comfortable in giving a better prognosis.

Like my regular OB, Dr. Dunn wanted to talk about how the thickening may have occurred, as opposed to talking about what the condition meant specifically for Annie. She was able to tell us that most of my bloodwork from last Tuesday was back -- all negative for the antibodies for which they were testing. (It turns out one test was incorrect -- they tested me for some crazy fungus instead of the coxsackie virus they were supposed to be testing for -- so one more test is being run.) We ran through genetic things, but mostly came up with nothing suspect. We also talked about delivery, but she left that more in the hands of Dr. Levine at Children's. I think we're leaning towards delivering in Boston no matter what at this point, so I don't know why I keep asking about that. In any event, we got to see Brigham & Women's and show Jamie around a bit, and we got to meet the doctor who would at least be somewhat involved in Annie's delivery. All in all, we really didn't get a lot of information out of Dr. Dunn but it was worth going over to meet her and get established as a patient there.

On to the pediatric cardiologist at Children's .... We had another echo before we met with the doctor, then the doc came in to try and get some better images. Annie is becoming infamous for keeping a knee or elbow or her back or SOMETHING between her heart and the echo. Dr. Levine spent almost an hour trying to convince Annie to move for her and give her a good look at her heart. When she was done, she walked us through her thought process. First of all, she doesn't believe this is EFE after all! She feels like she got a good look at where the thickening is, and it's not in the endocardium. She believes it's either in the epicardium or possibly even the pericardium at this point. She ran through some other diseases that are even more rare than EFE, but really didn't feel like this presentation fit any of those either -- at least not at this point.

She spoke to us about the only other case she has seen that was anything like our case. In that case, the thickening was only in the middle of the heart (down the septum); but in Annie's case, the thickening involves the entire left ventricle. She wasn't able to draw a direct correlation between her previous case and Annie's, but she did say that it was something that gave her some reason to believe that there could be a positive outcome in Annie's case. In her previous case, the thickened part of the heart basically diminished in proportion to the growth of healthy heart tissue. By the time the baby was born, the thickened portion was only a small, thin line down the middle of the heart. The baby is clinically fine, with no heart problems whatsoever. They monitor her regularly to make sure that her heart is functioning correctly and so far, so good.

Dr. Levine says the option that has moved to the top of her list is the possibility that there was some damage to Annie's heart early on, possibly a heart attack. She thinks that what we could be seeing as thickening is the leftover damaged tissue, but that it is being surrounded by healthy heart tissue growth and even compensated for (much like the radiologist said in the morning). She cautioned us that the heart could be functioning perfectly now, but in four weeks we could see that it has begun to tire or otherwise decompensate. With the caution, though, came her statement that she was feeling "pretty good" about this and she would almost say that she thought there was a 50/50 chance that this could be nothing to worry about.

So, where are we? We're back to waiting. Dr. Levine wants me to see my OB up here weekly, just to check in and listen to Annie's heartbeat. She would rather know sooner than later if something is changing (and so would we!). We'll go back to Children's in a month for another echo with Dr. Levine. She will be looking to see if the thickening has diminished at all in relation to the rest of the heart or if any accompanying dysfunction, etc. (valve involvement, fluid buildup around the heart, etc.) has developed. There's nothing more we can do right now but wait and see.

Thank you, everyone, once again for all of the support and words of encouragement, friendship, and love. We can't thank everyone enough. Please keep us in your thoughts as we continue to wait and see. (We do have a theory that grandchild #9 on the Norwood side/grandchild #15 on the Setzler side has just figured out her own way to get some attention, even if she is the tail end of the next generation!)

Something Hopeful

Well, we've had a bit of good news! We're not ready to go crazy, but we are happy to have a little glimmer of something good.

I spoke with the pediatric cardiologist at Dartmouth Hitchcock, Dr. Sadr, this morning. She called because she had heard back from Boston on the tape of our echo. Apparently, the tape made the rounds to quite a few docs at Children's. None of the doctors, save one, had ever seen anything like it. Apparently, the rarity/issue is with the fact that Annie's heart is showing no dysfunction -- only the unexplained thickening of the left ventricle's lining. They have never seen this type of thickening without accompanying dysfunction in the heart, if I understood everything correctly. In any event, the good news comes from the one doctor who had seen something similar before: in that case, the thickening resolved itself completely during the pregnancy and the baby had no issues at all!

To make things even better, Dr. Sadr told me that the doctor who has seen this before is Dr. Jami Levine. That happens to be the pediatric cardiologist we already have an appointment with on Monday afternoon. Now, more than ever, we are looking forward to getting to Boston and talking to the docs there.

I had prepared myself before speaking with Dr. Sadr, telling myself to expect the letdown of hearing that the doctors in Boston had agreed with her diagnosis. Once again, I was shocked by what she told me and unable to gather my thoughts quickly enough to ask many questions. My main question at this point is if we are still treating this as EFE. ??? Is that still the diagnosis? Is it the diagnosis now only because they don't have a better diagnosis to fit this situation? We hope to get the answers to these questions in Boston. Meanwhile, Dr. Sadr said the recommendation from Boston was that we go with what she has set up for me -- another echo in about 4 weeks to monitor the situation.

No matter what, it seems as if we have been given at least one glimmer of hope for a positive outcome. We'll take it!

First Boston Appointments & Bloodwork

Spoke to the woman at my OB's office who is handling all of our scheduling in Boston. We're headed down early Monday morning (7/31) for an ultrasound and visit with the perinatologist at Brigham & Women's. That afternoon, we'll meet with the pediatric cardiologist at Children's. (Lucky Jamie -- we'll have a lot of time to kill in between appointments, so we can head over to the Children's Museum or something.)

I'm also having bloodwork done today. I asked about being tested for the antibodies related to autoimmune diseases (anti-Ro and anti-La) as there is a link between EFE and those antibodies. My doctor had already requested the test, thankfully. (She must have been doing some research, too!) So today's bloodwork will be for viral antibodies as well as the anti-Ro and anti-La antibodies.

Conversation with the OB

My regular OB was out of the office most of last week, so she didn't hear from the cardiologist until Friday. We finally touched base with her on Saturday morning, and spoke for almost an hour.

Neither she nor any of her partners have ever had a patient diagnosed with this. She said she was floored by the diagnosis -- that she really thought it was an issue with their equipment or something very simple. With no knowledge of the condition, she wasn't able to speak to what will happen when Annie is born. She is more focused on right now at this point. With no family link (and we have a large sampling in all of our nieces and nephews!) and knowing how rare it is, I think she is trying to figure out how this happened. There is some connection to interuterine viruses, so the first thing she wants to do is run a blood test to check for a variety of antibodies in my blood.

We also discussed my next step at length. She gave me the option of seeing a high risk OB at Dartmouth here in Manchester or seeing one in Boston. I decided it just makes more sense to go to Boston for a variety of reasons. One, it would be great to meet the people/staff who will be involved in Annie's delivery and treatment in Boston. Second, it is a rare condition but if anyone has had it anywhere in the New England area, they would have been sent to Children's in Boston as well. If any doctor is going to have experience with this condition, it is likely to be a doctor in Boston. Third, we can begin to introduce the new hospital to Jamie and begin talking to her about Annie's birth there. We have been talking to her about what we thought the experience would be here in town, but now it is going to be something altogether different.

So ... we are headed to Boston, hopefully this week or next. Dr. Johnson is arranging joint appointments for us with the high risk OB/perinatologist at Brigham & Women's and a pediatric cardiologist at Children's. She will work on getting the copy of our echo to the doctors as well, but she said to expect that they will want to take another look on their own. (That's good because we will have an opportunity to see if the condition has progressed at all.)

At this point, Dr. Johnson doesn't know more than that. She said that if the pregnancy progresses and Annie continues to tolerate the condition well, we should still expect to deliver at 39 weeks (Nov. 2). She assumes that the echoes will become more frequent as the pregnancy progresses, so if they see that Annie is worsening in any way they can make the decision to deliver her early. At this point, I will continue seeing the pediatric cardiologist here in town for echoes and continue seeing Dr. Johnson for my regular OB care. She said that may change after I visit Boston -- the high risk OB may want to take over my care completely. We'll see. I was just glad to hear that the appointments will be sooner rather than later. Waiting six weeks until the echo sounded like a long time to go without checking in on Annie! (Dr. Johnson is going to move up my ultrasound schedule as well and at least check for hydrops (fetal edema) or other secondary signs that the heart is not functioning properly.)

Meanwhile, Scott and I keep searching on-line. I found one recent report through a blog search that talks about steroid treatment and EFE. It seems to be something regarding EFE seen in mothers who have lupus (and lupus-related antibodies), but I haven't figured that part out yet. In any event, the report says that treatment with steroids reversed the condition in the fetus! We're not grasping at it, but it sounded interesting. I'll run it by someone medical as soon as I can. (Stay tuned.)

More news as soon as we hear anything ....

The Diagnosis

We are creating this blog as a way to communicate everything that is going on (and may go on) with baby Annie. On July 18, we had a fetal echo at Dartmouth Hitchcock in Manchester. The peidatric cardiologist and the echo technician together took over 20 minutes of video during the echo, which lasted about an hour altogether. The pediatric cardiologist said virtually nothing during the echo, then had us move into another room so she could go over her findings.

The doc explained that Annelise ("Annie") has a condition called Endocardial Fibroelastosis, or EFE. It is a condition that affects the lining of the heart, causing it to become fibrous and less elastic than it should be. She told us that the baby is "tolerating" the condition at this point, meaning it has not progressed to any other complications and her heart (esp. the left ventricle, which is the affected chamber) is currently ejecting enough blood. We are scheduled for another echo with her in six weeks to determine if the condition has progressed at that time. The doc also told us that the chances that Annie would survive to term were about 50/50 at this point, but could go down from there based upon if/how the condition progresses in utero. She also told us that Annie could not live with this condition, and there is no cure. The only true treatment is a heart transplant. Without a heart transplant, the life expectancy is no more than 5. We were also told that if Annie makes it to term, we will have to deliver her in Boston so that they can deal with her condition there. That means delivery at Brigham & Women's Hospital, and Annie will go directly to Children's Hospital of Boston right next door.

Of course, Scott and I came home and began researching everything we could about EFE. The cardiologist had given us nothing hopeful or positive, but we saw reports that up to 1/3 of patients with EFE can recover completely. At this point, we don't know if the doc was seeing a severity in Annie's case that led her to only give us bad news; if she was giving us the worst case scenario so we would be prepared; or if she was giving us information based upon her own experience (and not recent medical advances).

Here is the most comprehensive info on EFE we have found so far:

http://www.emedicine.com/ped/topic2510.htm

My OB was out of the office, so we could not talk to her immediately. Meanwhile, we worked on getting the word out. We have some medical connections (thank you, Beth and Noel and Lori) and have had everyone possible doing some digging for us. So far, the positive part seems to be the early diagnosis. Since we know that Annie has this condition, we can go right down the road to Boston and one of the best children's hospitals in the country. There, they will be able to evaluate and treat Annie from the moment she is born. We just have to make it through the next 15 weeks or so ....

Scott and I were in shock at the diagnosis, of course. Reading all of the reports with their accompanying mortality rates was not fun. It is impossible to think about bringing this baby into the world, only to watch her die. The idea of putting a tiny baby through everything that would be involved in a heart transplant is equally as frightening.

On top of that, we have a fabulous, percocious, CHATTY three year old who believes not only that Annie will be born and that she will be a big sister right after Halloween, but also that Annie will be born in the hospital we drive by weekly (where she also was born) and that she will be able to hold her and bring her home from the hospital. It breaks our hearts to know that she probably won't be able to hold Annie right after she's born. It's also going to be a very different experience having Annie at Brigham & Women's -- their rules about siblings and visitors are much more stringent than those of Catholic Medical Center here in town. And that doesn't even begin to touch what we might be in for if Annie has to stay at Children's for an extended period of time. The idea of being separated from Jamie is hellish, but so is the idea of leaving Annie alone in the Cardiac Care Unit.

So right now, life is a big IF. If, if, if. We have nothing but questions at this point and don't know where we are headed. What we do know is that we have been overwhelmed by the support and love that has been offered to us by friends and family alike. From offers to help with Jamie, to friends camping out at our place and providing playtime for Jamie, to kind words of support, we are grateful for everyone in our lives. We have not been able to communicate with everyone individually as much as we would like to, but please know that we are thankful beyond words.