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.