Friday, September 12, 2014

Doctors and Surgeons and Nurses, Oh My!

Many exciting updates to share!  Including the answer to the most popular question... is little beastie a boy or a girl?
Having some fun at the baby stores.

One of the things I hadn't really thought about before, was just how many people are going to be involved in caring for little beastie during this journey.  There's my OBGYN (who I haven't even seen since the omphalocele diagnosis!), the ultrasound technicians, our perinatologist, the NICU nurses, the NICU doctors, and beastie's pediatric surgeon!  Add in all the other support staff and beastie has a veritable village to make sure he or she gets the best possible care (writing about beastie in sex neutral terms is really difficult in English!).

We've known whether the little monkey is a boy or a girl since August 13, when we had the big ultrasound and found out about the omphalocele.  It's been tough to keep our mouths shut, but now that we know beastie's prognosis is looking up, we're ready to share the news...

The date we found out, and smiles when we realized we were ready to share.

We are overjoyed to welcome the "new guy" to the family!  Speaking of that little guy, how is he doing?  Spoiler alert - he's doing great!  We had another visit with the perinatologist and got to spend some time checking out what beastie was doing on the ultrasound.  He gave the technician a little trouble (shaking his head "no" when she tried to take pictures of his brain), but mostly he was a good little patient.  He showed off his healthy-looking heart, snacked on some amniotic fluid, and had a bit of a morning workout.  Mommy can feel him flailing around in there (especially after meals), but Daddy hasn't felt a good kick yet.

The main things they are looking for at the ultrasounds include:
  • Has the omphalocele changed at all?
  • Are there any other visible defects that were missed before (mostly focused on the heart)?
  • Is beastie growing like he should?
Beastie passed all three the best he could at this visit - the omphalocele is still small (tiny according to some of the technicians and doctors), no other visible defects yet, and he's growing normally.  Now that we know about the omphalocele, the technician made sure we could pick it out on the ultrasound.  Since the omphalocele was created by the skin and muscle tissue failing to close all the way to the umbilical cord, it can be a little hard to tell the difference between the two.  In general, the omphalocele (the intestines) are more opaque than the umbilical cord.  You can see it really well in one of the pictures from our most recent visit.  

Beastie practicing his poses.

After the ultrasound and a chat with the perinatologist, we were able to go on a tour of the NICU.  This was very exciting for us since the more we can be prepared and familiar with our surroundings, the easier things will be.  The NICU was really full when we visited (25 babies in 26 beds!).  There are 80 nurses and three doctors in the unit, so we will be in very many good hands.  We talked to one of the managers and she answered lots of our questions (check out the updated Questions post!).  Kaiser's NICU is very progressive in that they encourage as much parent contact as possible.  Basically whatever beastie can handle, we'll be able to do (feed, change, cuddle, etc.).  We also learned about the all important visitor policy.  Visiting hours are 24/7 except for the nurses' shift change, but only two visitors at the bedside at a time.  Plus, one of the visitors must be "banded," which means they have one of two wristbands allotted to beastie.  These are non-transferable, so it boils down to visitors being Chris + 1 or Elizabeth + 1 at any given time.  Visitors are also allowed to hold and care for beastie.

As if that wasn't enough information this week, we also got to have a phone call with the pediatric surgeon!  She was very patient and answered all of our questions.  We'll keep most of the information on the blog specific to beastie's most likely treatments, but she told us about all sizes of omphaloceles.  For a small omphalocele (like beastie currently has), usually the baby has surgery one or two days after birth.  Pre-surgery will be a lot like it is for adults (tummy must be empty, x-ray, IV).  The surgeon will return the intestines and the protective membrane to the abdomen and sew up the closure.  The stitches are dissolvable, so beastie won't have to go through stitch removal or anything like that.  She also explained that they try to leave the umbilical cord on, because they've found if the umbilical cord is removed too soon the belly button doesn't form regularly - often there isn't much of one at all!  Even with leaving the umbilical cord on, beastie might have an odd-looking belly button, but that would be the only visible mark.

As far as long term effects of the omphalocele and surgery, there aren't many.  One that we have to keep in mind is babies with omphalocele are assumed to have malrotated intestines.  Basically, the intestines are (probably) not settled in the usual space, and therefore there is higher risk of intestinal blockage.  Because of this, if baby (or kid or even eventually adult beastie) has green vomiting, we have to go to the doctor right away to check.  Most people can have a little bit of green vomiting and that's OK, but people with high risk of intestinal blockage should get it checked out every time.

We were overwhelmed at first by beastie's diagnosis (and all the uncertainty), but now we are more overwhelmed by the outpouring of love and support from our fabulous friends and family.  Beastie is doing great so far, and we'll be keeping close tabs on him the next four months.  Plus he'll be in excellent care with the surgeon and the NICU after birth.  

Thursday, September 4, 2014

You Never Think It'll Be Your Baby

One of the most common questions we've heard this pregnancy is, "Everything's OK, right?"

We're not sure people really consider the possible answers when they ask this question.

But everything's OK, right?

No, not really.  We are hoping it will be someday, but that day isn't today.  It won't be in a week, or a month, or even upon delivery.

During the second trimester ultrasound, the technician noticed a physical abnormality of the abdominal wall called an omphalecele.  When internal organs develop in the early weeks of a pregnancy, they do so partially outside of the abdomen.  As the baby grows, the organs return inside the abdomen as muscle and skin tissue grow over, surrounding the umbilical cord.  In some rare cases, (somewhere around 2.5 in 10,000), the muscle and skin tissue do not completely cover the abdomen, leaving some organs in a sac outside of the abdominal cavity.  The size of the omphalocele, the severity of any complications, and the degree of other associated abnormalities is extremely varied, and since they are so rare, there isn't really a "normal" outcome.  Even though the condition is rare, Kaiser (our health care provider) deals with this every year, so at the very least, we feel we are in good hands.

{We encourage you not to Google "omphalocele" or "abdominal wall defect" right away.  Some very scary images come up, and many of them will not be representative of what the baby is experiencing now or likely to experience after birth.  Some good websites that explain what it is with no pictures or cartoon-type pictures are linked blow.}

Based on the measurements from the ultrasound, the doctor told us that, right now, it looks like a small omphalocele of about 1 cm diameter.   They feel it is likely that only a portion of the intestines are outside of the abdomen, covered by a membrane or sac.  This is good news, as a small omphalocele is usually easier to repair than a large one.  If the omphalocele is small enough, soon after birth the baby will have surgery to return the intestines to the abdominal cavity and close the hole.  The baby will stay in the NICU until he/she is able to eat normally.  There is a possibility of digestive issues, and the baby may not be able to eat by mouth right away.  The baby won't be released from the NICU until normal feeding and digesting are happening.

If the omphalocele is large, they would stage procedures to return the organs to the abdominal cavity.  Basically, the abdomen wouldn't be large enough to put everything back right away, so the skin and muscle layers are encouraged to grow over time, and eventually the baby would have a final closure.  This could take a number of months, but the baby might be allowed to go home for some of the time.  Sometimes this staged procedure is called "paint and wait."  Babies with a large omphalocele also often have lung function complications, since the pressure in the abdomen isn't quite right.  Based on the initial images, the doctors think this is a less likely scenario, but it is still possible.

Something to Lighten the Mood: Ultrasound Pics, August 13, 2014

One of the scariest things we learned when we learned of the omphalocele is that the abnormality is often associated with other birth defects.  Estimates vary, but roughly half of babies with omphalocele also have a chromosomal abnormality.  After consulting with various doctors and counselors at Kaiser about the increased risks, we chose to have amniocentesis (amnio) done while we were still at the hospital.  Amnio is scary because of the very slight (1 in 300 to 1 in 500) risk of miscarriage, but we decided that the risks associated with the omphalocele were high enough for us to go ahead with the additional testing.  Everything went well during the amnio procedure (except for Chris getting light headed), but then the waiting game started until we got results back.

Amnio can't check for every possible chromosomal abnormality, but it does provide a karyotype (picture) of the chromosomes which can confirm or rule out some of the most common and serious conditions, including Trisomy 21 (Down syndrome), Trisomy 18, and Trisomy 13.  After a week and a half of painful waiting, we received happy news with the first set of results, confirming the baby has the right number of chromosomes (46).  These results ruled out some of the scarier possibilities that are commonly associated with an omphalocele.

Since this is considered a high-risk pregnancy, we were also offered a more specific array test that looks for major deletions or abnormalities within the chromosomes.  Although this test took much longer (3 weeks of anxiety!), we finally got the best news we could get - no abnormalities found!  This rules out a bunch of conditions we don't know the names of or symptoms for, but we are thrilled.  Like all diagnostic tests, it can't test for everything, but it did test for a lot.  For you science nerds out there, the array test cannot detect genomic imprinting.

One genomic imprinting condition that is often associated with omphalocele is Beckwith-Wiedemann syndrome.  This syndrome is associated with overgrowth of limbs, organs, or as I'm sure many of you have guessed - cancer.  There is such a variety of possible prognoses, that we honestly haven't focused much research on this area.  At upcoming visits, we'll watch for other warning signs that make Beckwith-Wiedemann more or less likely, but with just the ompalocele, we were counseled not to worry about it too much.  After birth, we will be prepared to watch for warning signs, and may have extra check-ups to make sure everything is growing normally.

In addition to the chromosomal conditions, omphalocele is also often linked with other physical birth defects such as heart or spinal defects.  In the ultrasound where they saw the omphalocele, they looked very closely for any other defects and so far they haven't seen anything else.  However, Elizabeth and the baby will be under more frequent supervision to make sure we are aware as soon as possible if any other defects exist or develop.  On the bright side, we will get lots of extra pictures to share!

Speaking of Pictures: Elizabeth and the Beastie at 22 weeks, September 3, 2014

The past few weeks have been a huge roller coaster, and it's been very scary!  We are trying to be both optimistic and practical.  The baby will definitely be in the NICU, but we don't have any idea right now if that will be for a few weeks or many months.  We're already prepping a list of questions for the doctors, and we will try to keep that up to date as we get answers.  Please use the comments on that page if you have a question that we have not listed that you think we should ask.

Kaiser has been awesome so far (except for testing turn-around time - argh!).  It's really convenient having everything in one place, and all the doctors have access to Elizabeth and the baby's records.  This will make it very easy to transition from prenatal, to labor and delivery, to NICU (including pediatric surgeon, who we will meet ahead of time), to pediatrician.

We'll need to figure out our game plan with work, visitors, etc., since things will be different than a typical delivery and newborn phase.  We appreciate your support and patience and will keep you updated as we continue to learn more.

Resources we found helpful:

Questions for the Doctors

Omphalocele and Other Defect Questions
  • Is it still a small omphalocele?
    • So far, yes.  The doctors do not expect that to change.  The perinatologist told us the technicians all comment on just how small it is! 
  • What are they looking for at the ultrasound appointments?
    • Primarily they are looking for beastie's growth, to make sure everything is normal.  They also keep tabs on beastie's brain, heart, major arteries, etc.  Even though they keep looking just in case, they expect that any other physical abnormalities would have been visible by now.  
  • Are any other defects visible?
    • Nope!
  • Are there defects that we won't be able to see on the ultrasound?
    • There could be.  Ultrasound has limitations, and the primary defects that it cannot pick up are related to brain and bowel function.  There are no specific brain function issues (such as learning disabilities) that are related to omphalocele.  Beastie is at the same risk as any other baby.  On the other hand, bowel function could be a concern.  We just won't know until the baby is delivered and eating. 
  • Are there any other non-routine tests that are recommended for babies with omphalocele?
    • No.  Just the normal stuff (besides frequent ultrasounds).
  • Is there increased reason to collect baby's cord blood?
    • No, no change.

Pregnancy Questions
  • Should Elizabeth change any habits, or continue to follow normal pregnancy guidelines?
    • No change.  Elizabeth should continue following all the standard guidelines and advice.
  • Are there any concerns with flying in the second or early third trimester?
    • Nope!  Elizabeth is cleared to fly through the end of October.

Labor and Delivery Questions
  • Is the baby more likely to be born prematurely?
    • No.  Small omphalocele is not expected to cause preterm labor.
  • At what point will a C-section be favored over natural birth?
    • This is unlikely.  The surgeon actually prefers natural birth because of concern that the cut-down might damage the omphalocele membrane.  Of course, a C-section could be necessitated for other reasons.
  • Will there be any changes to what drugs Elizabeth can take?
    • No, not due to the omphalocele.
  • Are there any differences to how Elizabeth and Chris should prepare for labor?  Will a regular childbirth class be appropriate?
    • No changes.  We can do whatever we would have done without the omphalocele (which reminds us... we should schedule that...).
  • How close will Elizabeth's recovery room be to the NICU?
    • Across the hall, and she can go back-and-forth as much as she is able.

Surgery and NICU Questions
  • How soon after delivery will the surgery be?  
    • We don't know yet, and the surgery likely won't be scheduled until after the surgeon sees the baby.  What will happen very soon after delivery is admission to the NICU.  The surgeon said for a small omphalocele, surgery is usually 1-2 days after birth.
  • How long should we expect the baby to be in the NICU?
    • This depends greatly on the size of the omphalocele.  For a small omphalocele, we should expect 1-2 weeks (yay!).
  • Will Chris and Elizabeth get any time with the baby after delivery?
    • As long as the baby is stable, they will try to give us a little bit of bonding time.  No one was really willing to quantify it, so it seems like it will not be very long at all.  They want to get the baby over to the NICU and treated as soon as possible.  The baby will be wrapped to protect the omphalocele and keep it from bursting.
  • Will we be able to have skin-to-skin contact after delivery?
    • They encourage it, but it might not be able to happen right away because of admitting to the NICU.  They will do what they can to allow some after delivery, and then definitely in the NICU.
  • Who can visit the baby in the NICU?
    • Anyone!  But there are rules.  Chris and Elizabeth will have magic wristbands that let them into the NICU.  They can bring one additional visitor in (anyone), and there can only be two people at the beastie's bedside at any given time (Chris + 1 or Elizabeth + 1).
  • What are visitor's hours in the NICU?
    • 24/7 except for shift change.  Shift change is a 30 minute break when the nurses are coming in/out.  These shift changes are 7-7:30 a.m., 3-3:30 p.m., 7-7:30 p.m., and 11-11:30 p.m.  
  • Are there any special programs, services, or classes for NICU parents?
  • Can we sit in on rounds?  Is it parents-only, or can other visiting family sit in?
    • Anyone who is bedside can sit in.  They encourage parents to be there for rounds (~8:45 a.m. and ~5 p.m.).
  • How hands on can Chris and Elizabeth be with baby's care in the NICU? (Diapers, feeding, etc.)
    • As hands on as beastie's condition allows!  They like parents to be hands on so we can learn how to take care of the baby, but they take care of everything in the beginning.
  • What can we bring for the baby in the NICU? (Diapers, blanket, formula, breast milk, etc.)
    • Elizabeth is encouraged to provide breast milk.  We can also bring any blankets, stuffed animals, etc. to have around beastie's bed.  The only thing that goes IN the bed is a blanket to swaddle.  No need to provide diapers.
  • When the baby is ready to come home, what is the transition like?
    • Elizabeth and Chris and beastie will stay in a "Parent Room" overnight to make sure everything is going OK and we get any questions we have answered.  Then beastie is cleared to come home!
  • When should Elizabeth meet with a lactation consultant?
    • Regular time.  After birth once beastie is ready for traditional latching / breastfeeding.
  • Will Elizabeth be able to provide breast milk for baby?  If not right away, is there anything that the milk can be used for?
    • Yes!
  • Will Chris or Elizabeth be able to stay overnight in the hospital?  Limitations / cost?
    • The parent rooms used for transition to home could be used in extenuating circumstances.  Usually these rooms go to parents who live far away (i.e. Modesto, which is over 80 miles away).  It is unlikely we will get this benefit since we live close to the hospital (and have amazing friends who live even closer!).  There is also an on-campus housing thing... but honestly we can't remember the details right now.  
  • What sort of expense should Chris and Elizabeth plan for the surgery and NICU care?
  • How many times has the surgeon performed the surgery?
    • The surgeon has been Kaiser for 15 years (trained at Harvard).  She sees 3-4 babies with omphalocele each year (including all sizes).
  • What types of additional testing will there be after delivery but before surgery?
    • Probably just an x-ray and and echocardiogram (image of the heart).  There will also be a bunch of tubes (IVs, etc.).
  • What has the success rate been for the surgeries performed?
    • For small and medium omphaloceles, all of the babies did fine.  

Home Care
  • What should we tell the day care provider about care for the baby?
    • At that point, there shouldn't be anything special on day-to-day care.  
  • What differences with diapering and handling should be observed while baby is healing?
    • Generally none.  The stitches are dissolvable.
  • How long should we "baby" baby with respect to healing?
    • Not long!  Once the baby can come home, can be handled like any other newborn.
  • Are there local support groups for families or babies with omphalocele?
  • Have you considered a doula or other post-discharge care provider?  Would this be covered by insurance?
  • What support is there after transition to home care?
    • The NICU staff is our first line of support right after the transition, and eventually will hand us off to a pediatrician.  The baby should be eating normally (by mouth) by the time we go home, but there might still be some tube feeding.
  • Are there any long term effects?
    • Generally, no.  However, due to the omphalocele it is assumed that baby will have malrotated intestines.  This means there is a higher likelihood of intestinal blockage.  For the baby's whole life, if there is green vomiting - call the doctor.

Did we miss a question you think we should ask?  Please add it in the comments!