Trigger Warning: discussion of miscarriage, stillbirth, infant loss
It’s been nearly 8 months since the day the doctor told us our son had a cystic hygroma. We had never heard of it before and everyone I have told since has never heard of it.
According to the NIH Genetic and Rare Diseases Information Center a cystic hygroma is “a fluid-filled sac that results from a blockage in the lymphatic system . It is most commonly located in the neck or head area, but can be located anywhere in the body. It may be discovered in a fetus during a pregnancy ultrasound , or it may be apparent at birth as a soft bulge under the skin.”
Our son’s cystic hygroma was located on the back of his neck and presented until birth. In addition there appeared to be small cysts on his brain which resolved before he was born. After learning of the hygroma I underwent an NIPT to determine the risk of the three trisomies that are sometimes present with hygromas, 21, 18, and 13, or syndromes wise, Down, Edwards, and Patau respectively. It is important to note that the NIPT does not test the presence of these trisomies in the child but rather the probability. An amino is the only way to test in utero whether the child actually has one of these chromosome disorders. Amnios are accompanied by an increased risk of miscarriage. We declined the amino for our situation.
Our NIPT results showed our son was low risk for the three trisomies, and very low risk in particular for trisomy 21 or Downs Syndrome (1 in 10,000 chance).
Regardless the prognosis for fetuses with cystic hygromas detected after 20 weeks was shattering.
According to the NIH, “cystic hygromas detected prenatally on ultrasound are associated with an increased risk for chromosome abnormalities (particularly Down syndrome) and birth defects (particularly heart defects). Both of these increase the risk for miscarriage, hydrops, fetal demise, and neonatal death. Increasing size is associated with an increasing risk of an underlying abnormality.”
The percentages being thrown at us were staggering. Something like 80% of fetuses diagnosed with a cystic hygroma at/after 20 weeks developed hydrops and ultimately experienced organ failure resulting in their death before or after birth. Of the survivors the cause of the hygroma in 60% of those cases was linked to heart defects, often associated with one of the syndromes mentioned above. In about 20% of the surviving cases, the hygroma had no true cause and is considered more of a cosmetic concern.
As a reference librarian at a community college, for the first time I came to resent my professional skills and access to medical research. I obsessively scoured our online databases for any kind of hope. There is not a lot of research relating to cystic hygromas in fetuses. Much of the research that does exist on the platforms I have access to was older, from the 1990’s. I turned to message boards and anecdotes and found some people who had also experienced a cystic hygroma diagnosis. They too felt helpless and scared and confused.
The day we found out about the hygroma we went back to the car and I sobbed. I was certain we were going to lose our son and I felt the weight of an immense guilt I have never before experienced.
We didn’t buy any baby clothes or even think about the nursery for months after. All I could think about was if he dies I couldn’t bear to look at a room meant for a living baby. An empty promise. Where other couples were planning baby showers or baby moons my husband and I were making funeral plans. Pragmatic but, god, no one should have to shop for a child size coffin.
I don’t think I truly smiled again for weeks. Our oldest child took on a lot of this emotional turmoil as well. She didn’t understand, she was two and a half, but she sensed our hurt and there were times I couldn’t hide my distress.
We had to think about how this would affect her, not only by losing her baby brother who she was so excited to meet, but the effect the loss would have on us. I hated the thought of my toddler having to bear witness to that kind of grief but knowing it was inevitable.
To really put the icing on the cake I was rear ended a month later, the woman who caused the three car accident was uninsured and to this day has not had to reckon with her mistake while we were out thousands of dollars before our insurance could reimburse us (get the uninsured motorists claim, trust). I had whiplash for two weeks after but was more concerned by the seatbelt that had yanked me back into my seat when I was hit, tight against my pregnant belly. I didn’t know what kind of trauma might be inflicted on my baby by the force, if he had a heart defect how my stress might affect him, or if I had peed or was leaking amniotic fluid (thank God it was pee). I spent 24 hours in the hospital under a fetal monitor.
We saw the high risk OB the remainder of my pregnancy, had monthly anatomy scans, and were referred for a fetal echocardiogram. The heart scan pre-birth came back normal with the caveat that the fetal heart was so small there was room for error. We scheduled another echocardiogram after birth and have since followed up once and plan for another follow up in a couple of weeks. So far, our son’s heart is still considered normal, no evidence of major defects that our specialist is alarmed about.
At 36 weeks gestation, an anatomy scan alerted our high-risk OB to the possibility that our son had stopped growing about four weeks prior. He was considered to be in the 4th percentile overall for his size based on the sonogram measurements. I was immediately put on bed rest and an induction was scheduled for a week later.
At 37 weeks I was induced with pitocin, had my water manually broken, and delivered my son. He was 18 inches, 6 pounds 4 ounces, and perfect. When I say perfect I mean the high-risk OB was totally wrong about his size, his proportions, and the cystic hygroma was so small you couldn’t tell anything was wrong. My son has a little extra skin on the back of his neck but it has not affected his breathing or swallowing at all. He took to the breast immediately. He underwent several tests in the hospital, some typical of the newborn array, some specific to the concerns. My placenta and his cord blood were sent away for a complete chromosome check.
We brought our son home two days later, cautiously optimistic. He had smashed all expectations so far. He struggled a little with nursing after coming home, being three weeks early he seemed to have difficulty drawing milk and for a few weeks I was breastfeeding, then pumping to feed him which basically meant I was always in the process of feeding him, getting 30 minutes to an hour of sleep here or there.
But he grew quickly and strengthened. He is currently around 15 pounds at almost four weeks making him more than double his birth weight. He is so strong, he can hold his head up and already struggles to try to rise. He loves to watch the world around him, his sister, the dog, the Christmas tree lights. He is smiling and starting to giggle. He coos and makes consonant noises. He seems right on track developmentally.
His chromosome test came back abnormal. We don’t know the full results of the test yet or the implications for our son’s future, his cognitive ability or physicality. We have an appointment with a genetic counselor in January to get those results.
There are unknowns, and somewhere down the road the cause of the cystic hygroma may rear it’s head. I wanted to share our story up to this point. When I was first told and went searching for support there is so little. The pain of thinking you will lose a child is second only to the actual loss. I needed to be comforted and given hope. I want this story to serve as a beacon to someone like us.
I can’t promise everything will be alright, heck, I can’t even promise that for my own son. But if you find our story please reach out. I will be here to support you, to hold your hand and cry with you. To know exactly what you are feeling and not give you empty promises, that’s not what hope is anyway. Hope is strength and if I can lend strength to any mother or father experiencing that, please take it. Take these images and our anecdote and know a success story is possible, doctors can’t know every outcome, and statistics are not people.
Almost every day I look at my son, my little baby and I don’t know why he was spared when so many others suffered. I will never understand it and I will never be able to repay it. To God, the universe, chaos theory, whatever. It feels miraculous, it feels like a gift from God. It feels like I should go buy some lottery tickets. It’s feel good but it also hurts. I can’t really explain what it is that goes through my brain when I try to connect the doctor’s early prognosis and the seemingly healthy, happy infant in my arms as I write this.
He coos and I cry. He giggles and I cry. He lifts his head and I cry. He is alive and he completes our family and I will never take this gift we’ve been given for granted.