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Tuesday, July 25, 2017

Our Visit to Hopkins Fetal Therapy Group


Yesterday was our appointment with the Fetal Therapy group at Johns Hopkins Hospital. We met with their genetic counselor, and then had an ultrasound done and met with two fetal specialists. There wasn't a ton of new information, but I did walk away from the appointment feeling good about our direction, and I am soooo pleased to say that April will be able to have her body donated to science!!!

One of my biggest weights was lifted off when I found out this news. After talking with the genetic counselor, it is going to be extremely simple to have her body donated to Hopkins. She's going to look into specific studies, and if that doesn't pan out, she said she'll easily be able to find med students that are interested in this specific condition. We'll be able to donate her body for them to learn from, do a practice autopsy on, etc. In addition to that, she mentioned the possibility of having a team of students come in and observe the induction, and have the chance to see her as well, in order to further their education on trisomy 13. This was the point in the appointment when I just burst into tears. I am so happy that this can happen so easily. Thank goodness we live near such a wonderful teaching hospital!


In addition to discussing donating April's body, we talked to the genetic counselor more just about trisomy 13 outcomes in general, then went through what the induction process will look like. It can be difficult to get your body to respond to induction at such an early gestational age, but it is also best to do it early since it is easier on the baby, and on Mama. After 22 weeks, they'd do a procedure to stop the baby's heart, but before 22 weeks it is not needed. It is possible that she may live for a few minutes at this early age, but she would be in no pain as her body is not developed enough yet.

For the induction process they'd keep me overnight to monitor my progress and get things going. She explained that the process of getting to the birthing stage can take awhile since the body is not thinking it's time. All of the normal pain control measures are available to me, such as getting an epidural if I so choose.

She took a family history, and we talked about our emotional states. She covered everything and I think we both walked out feeling prepared with information.

Next up was our ultrasound. I've never had such an in depth ultrasound done. Every structure in the body was imaged, every bone, everything! It was long. So long that I was uncomfortable on the table and my belly is sore today from all of the pushing with the ultrasound wand! They looked as closely as they could at every structure in her body, however, and we were very thankful for their thoroughness.

When the fetal specialists came in to talk with us, I appreciated hearing things from their point of view. A simple discussion of genetics versus physical abnormalities was brought up. My husband and I have a hard time with the genetic diagnosis, compared to her ultrasounds and physical diagnosis which seem to contradict each other slightly.

The specialist's take on this:

- The genetics indicates full trisomy 13. April does not have much of a life expectancy at all, and with that diagnosis, her intellectual deficits will be massive and are one of the sure outcomes with this diagnosis.

- The physical abnormalities on screen are all what they'd classify as "minor". There are no major defects that are things we couldn't manage just based on her imaging. Had we not known about the genetic diagnosis of trisomy 13, the multiple "minor" abnormalities seen on the ultrasound, however, would have been a big red flag indicator to check for it.

- Combined, the genetic diagnosis and physical abnormalities mean a fatal outcome and poor quality of life for April.

The doctors sympathized with us, in that we are in one of the most difficult situations for making decisions. As humans we want visual proof, and we don't always get that with a condition like trisomy 13. Many times the physical deficits are so major and life threatening on their own, that the decision pathway can be made a bit more clear. In our case, they expect the ultrasounds and physical defects to remain in this "grey" area of several minor defects, all combining to one fatal outcome with our genetic diagnosis. But for decision making on the parents' end, this can often be the hardest.

In our case, odds are we wouldn't start seeing the "major" defects show up physically until much further into the pregnancy, when an induction would be much more involved.

Our initial discussion summed it up well for me, and I didn't end up having too many further questions for these doctors.

They did see a couple of small new items pop up on the ultrasound:

- In addition to the echogenic kidneys and minor heart issues, they were able to get a very clear picture of both hands- each having 6 digits, which is an early indicator of trisomy 13.

- While her brain is not showing anything as major as holoprosencephaly, it is showing that the membrane between the two hemispheres is not fully forming. Brain function and defects are extremely hard to detect at this early gestational age. Most likely as the pregnancy progresses, we'd see that her brain was smoother than normal and just not making all of the typical neural connections.

- The placental function is compromised. With a chromosomal abnormality like this, the placenta is also affected. In our case, with lower placental function, April's growth will be inhibited. Basically the blood flow is inhibited, and she won't be getting the oxygen and nutrients she needs to grow. She's at risk of preterm delivery, or stillbirth as well. This condition puts me at risk of preeclampsia as we get further into the pregnancy, placental abruption, and preterm labor.

It was a looooong emotional day. We didn't set a date for the induction quite yet, but I think we'll likely be moving forward with it soon. With basically a 5-7 day turnaround on a timeline for induction, we felt no rush to schedule it yesterday. More updates to come soon.

Visit the trisomy 13 page, for all of the posts on April Rey and trisomy 13.




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