Termination For Medical Reasons - Dandy Walker Malformation

Grey Diagnosis: Dandy-Walker is rare. Even more rare to present as ours did, a true genetic fluke not associated with the X chromosome or a Trisomy. We were the truly unlucky 1 in 35,000, whose prognosis continued to get worse with more information.

"FOR Our baby WHO was due July 19"

On November 7th 2022, two days before my missed period, my husband and I found out we were expecting our first child. On March 9, 2023, at 21w 2 days, we said goodbye to that first child, choosing TFMR for Dandy Walker Malformation.

My husband and I were like a lot of newly married couples in their 30s. We were “not not trying” to get pregnant. We watched our closest friends struggle with unexplained infertility for years and didn’t want to wait, in case we needed medical intervention. I was almost 30, and he had just turned 37 and we knew to have a healthy baby that time was ticking away. We were so fortunate to get pregnant the first month that we weren’t preventing pregnancy, albeit a bit surprised it happened so easily. I knew early, and immediately went into “pregnant mode”. I cut out all medications, supplements, raw fish, deli meat, and caffeine until we were able to meet with our doctor at the 10-week ultrasound. I wanted to make sure that I did everything in my power to keep the baby happy, healthy, and growing.

The 10-week scan looked good- baby was moving, and healthy, measuring just the right size. At 14 weeks, we got a glimpse of the heart (beating strongly) and spinal cord as the baby danced away. While I was persistently nauseous throughout the entire first (and second) trimester, I worked hard to exercise regularly and eat as much of a diverse diet as I could stomach. We were so excited for our sweet surprise baby.

On March 3rd at our routine 20-week ultrasound, the doctor took too long. Anyone who has experienced this knows that feeling. When the techs returned, they had a Maternal-Fetal Medicine (MFM) specialist in tow, along with his nurse. He let us know that they were suspicious of Dandy-Walker syndrome, though they couldn’t tell us the severity. Dandy-Walker syndrome affects 1 in 15,000 to 35,000 live births, depending on severity. The more severe, the less likely it is to occur. Dandy-Walker can be carried on the X chromosome and often presents with Trisomy 21, 18, or 13.

My husband and I are both in the medical field and are what we consider “medically literate”. We immediately opted to get as much information about the baby as possible, including a same-day amniocentesis, and a scheduled fetal MRI. As it was a Friday, they advised us to go home, stay off the internet, and wait for our scans on Monday.

I couldn’t help myself. Monday before the MRI, I logged into Pub Med to learn more about our diagnosis. My husband had only heard of it once, in school, and our primary care provider was also unfamiliar with what exactly Dandy Walker meant. I learned that Dandy Walker is a spectrum, most commonly called Dandy Walker Syndrome (DWS), resulting from the absence or underdevelopment of the cerebellar vermis. Some children with DWS can present normally, and be minimally affected, while others can have more severe motor, intellectual and behavioural defects. Children with Dandy Walker Malformation (DWM) (the most severe) rarely present normally, and have their own spectrum of disorders, based on additional changes in fetal development. DWS and DWM are not terminal on their own, however, the physical symptoms post-birth can be.

In the hours before our scan, I waffled through what I wanted. I certainly wanted a clear diagnosis, but I also wanted a clear prognosis: one extreme or the other, to keep us out of the grey space any longer.

Going into our MRI, my deepest hope in my heart was that they were wrong about all of it (though I knew that was unlikely). My second hope was that we would get out of that scan with a diagnosis of DWS. DWS to us felt manageable like our child would still have a good quality of life.

On Tuesday we met with the Pediatric neurologist, who gave us the full picture of our sweet surprise baby. Baby did not have any additional genetic malformations (no trisomy) but had severe DWM, along with other developmental abnormalities. Not only was the vernis completely absent, but the left and right hemispheres of the cerebellum were splayed. It was unlikely with this presentation that baby would be able to eat or breathe on their own. Baby also had enlarged left and right ventricles in the brain, filled with cerebral spinal fluid. The left ventricle was so enlarged it was pushing on the optic nerve, and would render our child blind. There was also MRI evidence that baby had already experienced one intracranial hemorrhage, and would likely experience more. The MRI also showed the rest of the brain on the left side was not developing normally. Looking at the scans, my husband and I were shocked at how evident the malformations truly were.

Dandy-Walker is rare. Even more rare to present as ours did, a true genetic fluke not associated with the X chromosome or a Trisomy. We were the truly unlucky 1 in 35,000, whose prognosis continued to get worse with more information.

My husband and I asked all of the same questions that I am sure other grey-diagnosis parents ask:

Would our child attend normal school? No

Could our child eat and breathe on their own? No

Would our child be aware of the world around them? Likely no

How much medical intervention would we need? Constant. Our baby would need a full time caregiver.

Our doctor then gave us even more crushing information: we may not make it to term. With the intracranial haemorrhage, it was possible (40% chance) that our baby would be stillborn, and if we made it, 60% chance that we would not leave the hospital with our baby.

Could our baby survive? Maybe. Could it be less severe than expected? Maybe. Was that a risk we were willing to take? That was the question we asked ourselves, over and over.

What quality of life would our child have? What quality of life would we have? What about our families and friends, who would also bear the brunt of this?

What happens if our child outlives us? We knew we wouldn’t have additional children with this diagnosis. Who would care for our child when we were gone? Would we resent our child? Would our child be in pain, or unhappy?

We made the decision, in partnership with the MFM team, Pediatric neurologist, and our primary care physician, to terminate. The risks to me and the baby, both emotionally and physically, were too much to try to push to 40 weeks. Neither my husband nor I would choose the life predicted for our baby, for ourselves, or any loved one. So we chose to let our baby go, peacefully protected and safe from the horrors of the diagnosis.

My clinical brain knows that even with the grey diagnosis, we made the right decision for our baby, ourselves, and our family. My mom heart still wonders though. With a grey diagnosis, it is so easy to think “What if they were wrong” or “What if it wasn’t going to be that bad and we got lucky”.

I will forever grieve this child, and the life we had planned, but I also know that we did what we thought was best, acting as loving parents, protecting our child from this grey life.