Our Spina Bifida Diagnosis
I want to start by saying that if you are reading this, thank you so much for your support and love, it means everything to us. We’re going to be posting updates on this website so feel free to check back periodically.
As of now we’re only sharing this link/password with close family and friends. I’m also going to try to link as many of the medical terms and resources as possible in case you’d like to look further into what we’re going through.
The first trimester of pregnancy was luckily super easy going for us and everything was looking healthy and smooth. At week 16, I took a routine blood test that screens for AFP, which would let us know if there were any neural tube defects.
A week later I got a call that the AFP was elevated, showing that we had a 5.8% chance of Spina Bifida so I moved up my 20 week anatomy scan to 18 weeks so they could look at the brain and spine for any abnormalities.
Once we got to the anatomy scan the sonographer said everything was looking good and healthy at first so we really enjoyed just watching our baby girl for 40 minutes. When the doctor came in to speak with us at the end of our visit she wanted to take another look at the spine and brain and showed us the malformations that she was concerned about, and diagnosed baby with spina bifida. We didn’t get too many details as the doctor said she wanted us to get more tests and speak with a specialist, but it was one of the hardest, most life changing moments for us.
We could only hear the worst case scenarios that she was describing. Paralysis, a missing cerebellum, no bladder or bowel control, poor quality of life, termination of pregnancy, cognitive damage, a misshapen skull, surgeries. We didn’t know then, but the scenario she was describing to us wasn’t necessarily accurate for our specific case, but it all felt like the world was ending.
We did the amnio test that day, and were told that we were going to need a fetal MRI but the baby was still too small to read any of the results. That meant we had to wait another week and a half to speak to a specialist, in our case, a pediatric neurosurgeon.
Once we got the MRI and spoke to the neurosurgeon in Miami she gave us more insight on the damage that we’re going to be dealing with. It was much better news than the worst case that we were originally told, but she said she did need a repeat MRI to get more information.
She confirmed that she has open spina bifida, specifically Myelomeningocele in the sacral region of the spine, Chiari Malformation type 2, and possible hydrocephalus. As far as damage from the myelomeningocele, we’re looking at possible mobility issues, feeling, and paralysis of the feet and ankles, lack of any bowel and bladder control.
They gave us two options for the repair. One being open fetal surgery, the other being surgery after I give birth.
Getting second opinions and as much information as possible from the best possible sources is #1 priority right now, so we’ve set up a consultation in Philadelphia at CHOP for June 20-21st, where they’ll do extensive testing, give us all of our options, answer any questions that we have and come up with a care plan for us.
Jared and I are lucky to have each other to get through this, as well as all of the support that friends and family have been showing us. It truly makes the biggest difference, and we are hanging in there, ready to make any moves that we need to in order to give her the best quality of life.
I’m sure as we move forward we’re going to need that continued support and some help, but right now what we need the most is well wishes, good vibes, and prayers put into the universe to help baby stay strong through all of this. As much as questions and check-ins are very much appreciated and welcomed, we’re going to be posting most of the updates here rather than contacting everybody individually so we can try to preserve whatever sanity that we are clinging onto.
And as we are possibly relocating to Philadelphia for the rest of the pregnancy we aren’t anticipating having a traditional baby shower, so I am going to link our baby registry here.
Thank you all again for your well wishes, we love you!
