A little bit about the omph

I want to spend a little bit of time to talk about the omphalocele.  The little extra omph.  No matter what else may get eliminated as a possibility, there will still be this to deal with.

An omphalocele is caused by the abdominal wall not coming together, or otherwise called a herniation.  It occurs in about 1 in 4000 to 7000 babies.  There is no definitive reason why this happens. From the herniation, organs can sneak out and a sac forms around the organs.  There are basically two types of omphaloceles – small ones and giant ones.  They really could have just called it “large” or maybe “grande” instead of giant. Giant omphaloceles, like the one our baby has, is categorized that way because part or all of the liver has snuck out of the abdominal cavity.  We have read some conflicting information regarding omphaloceles and its relation to other complications, but our geneticist suggest that about 70-80% of babies that have giant omphaloceles only have the one complication.

Once the omphalocele has formed, there isn’t any way for it to get better.  The only thing that we can do is wait and see.  Other than the fact that I have more appointments than usual, this pregnancy will be treated like a normal one.  This means we can still take Addison to Disneyworld so she can cry on all the trams.  This also means that I have no excuse but to drag her around all the gymnastics apparatuses kicking and screaming.  Nuts.

From what we have read online, delivery will be by c-section.  Our geneticist says that the sac is quite durable (to quote – like saran wrap) and so babies can be delivered vaginally.  That just sounds a bit scary to me.

After baby is born, there will be bit of a stay at Children’s hospital NICU, and then it all really depends on the surgical team and what they want to do.  Most likely there will be some sort of waiting period where we paint the omphalocele with stuff that is similar to what they treat burn victims with.  This may or may not be done at home.  The waiting is used to try to shrink the omphalocele and also give the abdominal cavity chance to grow a bit bigger.  There is no saying how long we would have to wait for surgery, or how many surgeries baby will need to have.  It depends on too many factors.  The good news is that the prognosis after surgery for babies born with omphaloceles is very good.  Just a battle scar and maybe some issues with feeding that they probably outgrow.

So this is what we are hoping for right now.  Everyone cross their fingers and toes for us please!

For more information, the Philadelphia Children’s hospital has a really good website

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From the beginning

So this one is going to be long because since our 12 week ultrasound, we have had quite a few appointments…so a bit to catch up!

This second pregnancy started out as normal as can be.  My cravings for cheese buns and ravioli came back.  I had morning, or better termed, all day sickness.  I started showing really early, which is unfair. Unlike my first, I was far less nervous about everything.  I snuck in 2 hotdogs one week.  I took warmer than luke warm showers.

So when we walked into our 12 week ultrasound, two year old Addison in tow, we were pretty expectant to go in there, have a fun time seeing our little one in baby form for the first time, and then hurry the heck out of there before our wonderful little princess devolves into a screaming, crawling, babbling, head spinning gremlin.  Things seemed to go well during the ultrasound until I noticed the strange worried look on the tech’s face.  That was the first glimpse into my new normal – strange, worried, sympathetic looks.  Once she was done the ultrasound she asked us to wait for the doctor.  So we waited, and waited.  And Addison turned into the gremlin.  And we waited.  Finally a doctor and nurse came, and broke the news.  Our baby had a Giant Omphalocele – which meant instead of completely forming an abdominal wall, our baby’s herniated and the amniotic sac created a sac around some organs that had snuck through the hole.   Also, my blood test came back which resulted in a high probability of baby having one of the severe trisomy disorders – the ones where there is a 90% chance of baby not making it to her birth day, and 95% chance of baby not making it past her 2nd birthday.  The radiologist couldn’t tell us much more than that and referred us to the geneticist.  That night, we had a pretty good cry.  It is not everyday as a parent that you learn that your child will require major surgery and that she might also have a disorder that will cause us to lose her prematurely.  It was hard that night to take things one step at a time, and to remember that we have a long ways to go to knowing the whole story.

Our geneticist appointment was scheduled for a week later, and speaking with him really helped put a lot into perspective. The only thing we knew for sure was that our babe had a Omphalocele.  There were lots of other issues that we just don’t know about yet.  Maybe she has a heart defect.  Maybe she has one of the two scary trisomy disorders.  She might have a genetic disorder called Beckwith-Wiedemann Syndrome (BWS for short) which may result in potential kidney issues.  But more likely, our baby just has a giant omphalocele.  Just an extra little Omph.   He also provided us with a good path forward with ultrasounds and tests scheduled for the next few weeks so it felt like at least we were doing something.  Our good friend also really helped by reminding us that from this point forward, every single test is to confirm that each worst case scenario is not an issue for us.  We decided that we would have a CVS test where they take DNA from the placenta to learn about any genetic disorders we were facing.  One more week wait before the test.

The CVS test was again at the ultrasound office.  Mark loves to be early, and turns out that the ultrasound office pads their appointment times by 15 minutes, so we ended up waiting for 45 minutes before going in for the procedure.  We had a very nice British doctor who came to do our procedure.  The funny thing about doctors is that so many of them are clueless what might shock or worry a patient.  He tried to comfort us that the bigger the omphalocele, the less chance for baby having the scary trisomy disorders.  Not knowing relatively how our baby’s omphalocele measures up with other omphaloceles, we asked if we had a big one.  “oh yah.  its MASSIVE!” That word massive now keeps floating in and out of my head.  Not an extra little omph, but an extra massive omph.  But at the end of the day he is right.  The outcome of a massive omphalocele with no trisomy disorders is more manageable.  The appointment went smoothly enough.  Until I had some pretty alarming bleeding later that night and went into the emergency room.  Thank goodness nothing was wrong.  They were able to get a dopplar heartbeat, and then an ultrasound the next day confirmed that little baby is still happily unaware that so many of us are nervously watching her.

We received our rapid results 5 days later.  These are the results for the 3 trisomy disorders (the two scary ones and also down’s syndrome). It was a Tuesday and they had mentioned I would either get results Monday or Tuesday morning.  I basically spent those two days frantically checking my phone at work until my friend intervened and took me shopping.  I was so nervous shopping that before the call, I didn’t buy a single thing.  Just checking the phone over and over again.  At three in the afternoon, we received the call.  Normal!  Normal…it is hard to believe how many emotions can now be tied to such a mundane word.  Normal.  of course our baby is still not “normal”, this is still just one thing crossed off the list of many possible (but not probable) issues that we will have to deal with.  But honestly, each and every thing we  cross off the list will feel just as uplifting.  Oh and by the way, we are having another girl!  After the results the relief flooded over me and I ended up going on a bit of a shopping spree – cute baby girl clothes anyone?

Sometime in between Genetics and CVS, I met with my maternal doctor at the same clinic we went to for Addison.  Initially I was dreading the appointment because I couldn’t see the point of going to a normal maternal doctor when I know I will be seen by a high risk OBGYN soon.  But I am glad I did.  She mentioned that she has had patients with babies that has giant omphaloceles and reminded me that the most likely outcome is that that’s all there is.  It felt good to know that my doctor has seen this before and can cater her care for me to be more suited to our situation.  She mentioned that if I ever needed just to make an appointment to chat that I could.  It felt very reassuring to be in her care.  I know that for the next little while, I will be in lots of hands so I am glad to be in one set of consistent ones following me through each step of the way until closer to the delivery date.

phew! so much has happened in a mere 3 weeks.  I know that our road is going to be bumpy and long and that there will be times that I won’t be able to look past the current crisis.  I am lucky to have a great team of health professionals looking after mine and baby’s physical well being, and an amazing husband, precocious daughter and unusually cuddly dog to come home to.  We also know that we are beyond blessed to have the friends and family that we have that have already begun to rally around us.  Knowing you are all with us on this journey makes it bearable and reassures me that no matter what this journey looks like, we will make it.  We are happy and excited to have our little girl get through this small part of the big picture and will revel in every little victory and triumph.

wait – can I still complain about normal pregnancy things?  Because my back hurts

Our baby's journey