Perspectives: Living with a Prenatal Diagnosis of HPE

This entry is the beginning of a series called, ‘Perspectives.’ We will be bringing our readers a variety of perspectives, shared by HPE parents in different phases of the HPE journey. These phases include prenatally living with HPE, having an infant/toddler with HPE, having an elementary-aged child with HPE, having a teenager with HPE, having an adult with HPE, and having an angel with HPE.

This particular entry was submitted by Donna, a mother living with a prenatal diagnosis of HPE. She is currently 34 weeks, and awaiting the birth of her daughter. Many of you reading this may be able to relate to this experience, if you are a HPE parent that received the diagnosis during pregnancy. I’m sure it will take you back to that very day when you learned about your child.

If you are a HPE parent who didn’t receive the diagnosis during pregnancy or you are not a parent of a child with HPE, and just following/supporting HoPE, you will definitely find this entry interesting. This mother’s perspective will give you insight into what it’s like to find out you are expecting a baby with a life-threatening condition. The entry is somewhat lengthy, so we are separating it into two parts. The following is ‘Part One’ of Living with a Prenatal Diagnosis of HPE…

Waiting for Abby: The story of my pregnancy, as of 34 weeks…

Getting the news
In June of this year, I went to our routine 18 week ultrasound. Matt and I decided not to find out the sex of our baby this time around, and it seemed easier for me to just go alone.  I made sure the radiologist gave me plenty of pictures to share afterward.  When the radiologist suggested I head upstairs to my OB’s office to get the ultrasound results, I thought it was a little odd, but proceeded nonetheless, just as happy as when I arrived that day.

What followed has changed me completely.  It changed how I look at myself as a mother, how I look at my son, and my view of God in my life.  And, I’m very aware that my life is going to further change in ways I can’t imagine now.  Dr. Bowling, the doctor in my OB group who happened to be available, met me that day for the first time under what I imagine are some of the least desirable circumstances to meet a patient.   After introductions, she told me that there was a significant amount of fluid on the baby’s brain and it was there in place of brain tissue.  The head also appeared to be a bit enlarged, tracking a little over a week ahead of the rest of my baby’s growth.  This indicated some type of chromosomal abnormality, and further testing would be needed for clearer information.  Can you head over to the Prenatal Diagnostic Center for a Level II u/s right now?  If you can’t drive, we can arrange for someone to take you.

Up to this point, I was fine- I tend to be analytical and quite pragmatic by nature, so I wasn’t falling apart over the possibility of my child having a problem; no, at this point I thought, “Alright, u/s isn’t perfect and we need more tests to determine what’s going on.  Ok, let’s go get these tests done.”  No tears, no real worry.  Just doing what needs to be done next.  I don’t even think I called my husband yet at this point, as I saw no reason to make him worry at work, until I had something a bit more concrete to share.  So, two blocks away at the Prenatal Diagnostic Center, I had another u/s, met with a doctor, and a genetic counselor who all sat down with me and educated me on the basics of a condition I had never heard of, Holoprosencephaly.

A grim picture
Before they even really got into detail about the condition, they shared the grim statistics and worst case possibilities for what my baby’s life could be like.  Somewhere in all this I did find out that we’re having a girl, and that she would quite possibly never walk, talk, or do much on her own, IF that is, she would even make it through the pregnancy.  IF she is delivered alive, the prognosis would not be good, as the life expectancy for children with this condition is quite short.  Should we stop here?  For some parents this is just too much and we can certainly provide you with information about your options and terminating the pregnancy now, as it is still early enough.

Though I know it wasn’t their intention, it felt like they were assuming I would want an abortion and they were just going to guide me through the steps.  In the weeks that followed, I can’t even tell you the number of times I had a doctor or other specialist suggest that termination was “probably worth looking at.” I was even told that “this was a valid reason to terminate a pregnancy,” as if I was seeking permission or approval from the medical community.  I know that this is a very personal decision, and people have very strong feelings on both sides of the issue, but I was honestly saddened and insulted that it seemed to surprise people when I wasn’t the least bit interested in termination.  Maybe it’s because I’m already blessed to be the mother of my wonderful 4-year-old son; maybe it’s because I was already visibly pregnant and already felt my daughter fluttering around inside of me for a couple of weeks by then; maybe it’s because I’m Catholic.  I don’t know the exact reason, but there was no way I wasn’t going to give this child a chance; I’m a mother! My one concern was that this condition might lead to a very physically painful life, and that was the one thing I could not put my child through.  But our team of doctors agreed that aside from some pain related to surgeries she may need, that was not the case.  From then on, I actually started to feel angry every time someone asked if I was interested in “other options.”

When my husband and mother arrived, the doctor and genetic counselor filled them in on what we had discovered, and then started us on HPE 101.  So many possibilities, so many questions, and no real answers at this point.  Once we left the center and I was in the car with Matt, I finally let myself fall apart.  I cried the hardest most gut wrenching tears, sobbing that came from the deepest part of my core.  I thought I wasn’t going to be able to breathe again.  I don’t tend to show much emotion in public, so after 3 hours of holding it all in, I had an awful lot of sadness and angst and fear to release.

Please, check back tomorrow for ‘Part Two’ of this mother’s experience of living with a prenatal diagnosis of HPE. This will include her experience of sharing the news with family and friends, facing the unknown, and the conclusion of her story…for now.