We have a diagnosis.

by Kathy on January 2, 2008 · 19 comments

in CHD, Echocardiograms, FET #1, Molly, Sean

I just finished composing and then sending a detailed and lengthy email to family and close friends (some of whom do not know that I have a blog), as a follow up to an email that I sent last week sharing about our situation. I don’t have the energy for a separate post and so I am cutting and pasting the email here:

Dear family and friends,

Thank you for your support, encouragement, emails, phone calls, positive thoughts and prayers over this past week.

I am writing to update you on what we learned at our appointment this afternoon with Dr. Bettina Cuneo, a perinatal cardiologist, at Advocate Christ Medical Center’s Hope Children’s Hospital. We had a thorough echocardiogram and Dr. Cuneo was able to make an initial diagnosis of what she thinks is wrong with our baby’s heart.

Dr. Cuneo determined that the heart defects are both electrical and structural. The electrical defect is referred to as a Second Degree Congenital Heart Block in which our baby’s heart has an abnormal rhythm/conduction system. This condition has nothing to do with the flow of blood or with the blockage of a major or minor coronary artery. It is an electrical problem rather than a hydraulic one.

The structural defect is Heterotaxy Syndrome or Left Atrial Isomerism. In regards to the structure of our baby’s heart, it appears to only have one ventricle and only one valve (it should have two of each). Also its heart and stomach are on the right side of its body, instead of its left (where is should be located). Dr. Cuneo explained that it essentially “doesn’t matter” that its heart and stomach are on the wrong side. However she did tell us that along with that defect some babies also end up having malformation of intestines, which carry a risk of obstruction.

During the echocardiogram our baby’s atrial heart rate measured between 114-116 bpm and its ventricle rate was 56 bpm. Dr. Cuneo explained that a fetus can survive long periods of time at these rates and that when heart rate goes down stroke volume goes up to compensate.

The electrical Second Degree Heart Block defect can be addressed with a pacemaker that could be placed in our baby’s heart after birth. The structural Left Atrial Isomerism can also be “fixed” through a series of at least three surgeries after birth and “a lot of care” as Dr. Cuneo put it. Another option, which Dr. Cuneo explained is becoming more common, when available, is a heart transplant. That said, Dr. Cuneo was very clear that the post-natal prognosis for a baby with this diagnosis is not good. She explained that though these conditions are not uncommon, that there are not many living children or adults who were born with both Second Degree Heart Block and Left Atrial Isomerism.

As you may imagine, though we went to our appointment today prepared for the worst and hoping for the best, we were still relatively shocked to be given this particular diagnosis for our baby. It is a lot to digest. Dr. Cuneo explained that most cases like this do not develop this early in pregnancy. In her experience, typically such defects develop and are discovered closer to 20 weeks gestation (I am 14 weeks and 4 days today). So she will literally be contacting colleagues around the country this week to find out what their experiences, if any, are with fetuses presenting these defects this early in pregnancy.

Going forward Dr. Cuneo would like to see us every two weeks for echocardiograms and consultations. She explained that between 14-15 weeks gestation that the resolution on the ultrasound/echocardiogram was not great. With each week of development she should be able to assess our baby’s heart condition more clearly. For example, Dr. Cuneo told us that she wasn’t able to get a good look at the “spongiform mitochondrial” in the heart and in coming weeks its condition may be telling as to what she might recommend in terms of surgical options for our baby after birth (trying to repair its current heart or a transplant), if it makes it that far.

Unless our baby’s heart rate consistently goes below 55 bpm, its heart starts to enlarge or its valves begins to leak, Dr. Cuneo’s approach will be to monitor our baby and prepare us for what might happen after its birth. However, if at any point one or more of those situations arise, we will then have three options to choose from.

The first “option” though we don’t really consider it an option, as we would never do it, is to end the pregnancy. Dr. Cuneo was very respectful of our view on that and explained that she is still required to share that option with us.

The second option is to be passive. Essentially not do anything to try to help the baby to survive longer in utero nor do anything to assist its demise. With this option we let nature run its course, which would probably mean that our baby would die in utero.

The third option is to be aggressive. With this option I would take an oral medication called turbituline (commonly used to stop preterm labor) to increase our baby’s heart rate and the strength of is contractions. This buys our baby more time and often gets a baby with these issues safely through pregnancy. There would be side effects to me from the medication, such as my own heart rate being increased, among other things, but Dr. Cuneo said it is not dangerous for me to take and has helped many babies make it to birth.

Again, none of these options come into play unless our baby’s current condition changes significantly. So we do not have to decide, at least not yet, which option we might go with should we have to choose. Bob and I have begun to discuss the various scenarios that might arise, however we wish to reserve our judgment until we see how things go in the weeks and/or months to come and have all the information available at the time we might have to choose a passive or aggressive approach.

Dr. Cuneo was able to share some statistics with us regarding this diagnosis related to our baby’s prognosis. However, she asked us to keep in mind they are really based on the diagnosis being made closer to 20 weeks gestation and thus may or may not be applicable to our case. She told us that the risk of fetal demise is 18-20%. So it is encouraging to us to know that our baby might have as much as an 80% chance of making it to birth. However, it was very hard for us to learn that after birth only 10% of babies born with these heart conditions survive. And of those who don’t survive, many of them die within the first few days of their life and thus never go home from the hospital.

Some of you have asked if our baby may currently have or could go on to have any brain damage because of the heart problems it has experienced or will continue to deal with. Dr. Cuneo believes at this point, and likely throughout the remainder of our pregnancy if our baby makes it to birth, that it does not and will not have brain damage. However, she did explain that developmental (both mental and/or physical) disabilities are a possibility after one or more of the surgeries that our baby would likely undergo.

In regards to the possibility of our baby having a heart transplant, if it survived long enough in utero and that seemed to be its best chance of a healthy life, Dr. Cuneo explained that there are understandably not a lot of donors. She told us that newborns do die waiting for hearts, however they can get babies on heart transplant lists as they approach a gestational age that could handle such a surgery and then if a heart became available, deliver the baby early to facilitate the transplant. If and when we were to try to go with the transplant scenario, later in our pregnancy Dr. Cuneo would transfer our fetal cardiac care to one of her counterparts at Children’s Memorial Hospital in downtown Chicago. In that case I would deliver at Northwestern Memorial’s Prentice hospital and the transplant surgery would be at Children’s Memorial.

So that is what we found out today. I shared here in as much detail as we can recall in effort to help you to try to understand as much as we are able to about our baby’s heart condition, diagnosis and prognosis. We find it helpful to have a diagnosis now, but also painful emotionally to try to grasp what lies ahead. More than ever we know we will have to take the remainder of this pregnancy one day at a time and deal with each development as it arises. Dr. Cuneo felt fairly confident that our baby would still be alive at our next appointment with her in two weeks, at which point she thinks she will get an even better sense of our baby’s heart condition and the severity of its electrical and structural defects. Time will tell.

As you know we have been through a lot to reach this point on our journey to try to expand our family. We have a strong faith and have no doubt that we will get through this, whatever the outcome. We feel very blessed and grateful to have Sean, each other and all of you caring and supportive family and friends. May God bless you and your loved ones in this New Year.

I will post another update after our appointment on Wednesday, January 16, if not before.

{ 19 comments… read them below or add one }

1 SommerNyte January 3, 2008 at 1:30 am

Kathy ~ I am so sorry for what you are going through. I can’t imagine how hard this is for all of you right now. You, your family, and especially Baby Benson are in my thoughts.

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2 Rachel Inbar January 3, 2008 at 1:40 am

I am so sorry that you have to go through this. It seems like you’re handling it incredibly well. I’m praying for the best for all of you.

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3 T-girl January 3, 2008 at 9:25 am

Dear Kathy, Literally I just can’t find words I just want you to know that your family and the little one are in my thoughts and prayers.

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4 Fertilize Me January 3, 2008 at 9:58 am

You are a brave strong woman. And your family are in my thoughts

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5 Becoming a Family of Four January 3, 2008 at 1:06 pm

Kathy,
You posted a comment on my blog once that really inspired me. I come back periodically to check on your pregnancy, and I am so saddened to hear of this bump in the road! My thoughts are with you and your family as you travel this unexpected path…
Maren

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6 The Town Criers January 3, 2008 at 1:43 pm

Kathy–I’m so sorry. Sending good thoughts to your family and the baby.

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7 Sherri January 3, 2008 at 1:56 pm

Kathy, I am praying to continue for you, the baby, and your family. I can’t imagine what you’re going through but you’re strong and I know you can get through this.

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8 Tina January 3, 2008 at 3:17 pm

I am so sorry…there are no words. We will be praying for you and your family, and praying for the best possible outcome for your little one.

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9 bleu January 3, 2008 at 4:34 pm

I am so sorry for what you are going through.
On an aside, my cousin has had to be on Tirbutaline for all her pregnancies (early labor with all three) and she says the first week is the hardest, she gets the shakes etc. but then it gets better and her body adjusts. This time she also paid attention to sugar and caffeine when starting it and it helped shorten the shakes. Just thought you might want to know.
You will be in my thoughts and meditations.

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10 K January 3, 2008 at 5:33 pm

Oh, Kathy. I am praying and praying that your baby continues to beat all the odds. So far, s/he is already in the minority. Perhaps by being diagnosed so early, that will actually be helpful in the long run.

I can’t imagine how tough this is. Know that you and your family are in my thoughts and prayers.

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11 orodemniades January 3, 2008 at 5:45 pm

I came over from Stirrup Queens to read and say hello.

I can’t imagine what you’re going through, but I wish you all (especially the littlest one) the best for the future.

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12 Carole January 3, 2008 at 6:19 pm

Kathy,
I came over from SQ. I am so sorry for all that you are going through.

I carried a preg to term w/ a serious dx in August 2006. I had a compassionate care delivery.

If there is anything I can do to support you…or help you with…or even just listen…please e-mail me a
thegoddessg@hotmail.com

I am thinking of you and your family.
~Carole
http://accordingtocarole.blogspot.com

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13 Natalie January 3, 2008 at 6:36 pm

Oh Kathy, you are in my thoughts and prayers daily. I’m so sorry you are having to experience this and will hope for the best possible outcome. You are a very strong person, keep up the strength. HUGS!!!

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14 Searching January 3, 2008 at 8:11 pm

I am so, so sorry. I will be praying for your family and your little one.

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15 Michell January 3, 2008 at 9:32 pm

I’m so sorry. Sending prayers to you and your family.

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16 Jen January 4, 2008 at 8:28 am

Kathy, I am sorry that you and your family are going through such turmoil. It sounds like you are in very good medical hands and your faith will help you through this.
you are in my prayers.

jen

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17 MrsSpock January 4, 2008 at 11:24 am

Came over from the SQ…you and your family are in my thoughts…

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18 Deb January 4, 2008 at 11:28 am

I’m sorry that you are going through this. Sending good thoughts your way.

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19 Patty March 17, 2008 at 9:14 pm

My grand-daughter was born nearly a year ago now with heterotaxy polyspleenia and she is doing so well that most of the time we forget she even has problems.
She was born with one kidney, 3 holes in her heart and several other issues and perhaps more to be found in a MRI to be done next month. But she is bright, active and silly just like an 11 month old should be.
We will be praying for you !

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