On April 4, 2025 our lives turned completely upside down. The baby girl we were told was healthy and thriving all throughout pregnancy came out with a surprise diagnosis of Trisomy 18. Full trisomy 18. Devastation and heart broken are words that come to mind but its really hard to describe what my husband and I went through in words. We had 5-6 ultrasounds and none of them picked up any anomalies that waved the flag for further testing. She was small and the cause was suspected to be intrauterine growth restriction due to preeclampsia…at 37 weeks they also noticed a big increase in my amniotic fluid but her heart was doing good, she was moving lots and passing all her biophysicals so nothing further was investigated. I had a scheduled c-section at 37 weeks because of how small she was measuring. Immediately it was apparent that something was wrong…she had radial dysplasia (with her radius missing, a short ulna, hand rotated in and thumb missing), low set ears, slightly smaller nose and mouth, and index finger slightly overlapping her middle finger on her other hand. The genetic testing took a week and it was agony not knowing. She was then diagnosed with full trisomy 18.
Our sweet little Reyna came into this world a mere 4lbs and a fighter! Her heart had the largest pda the doctor had ever seen at 8mm and miraculously it closed on its own within a week. Aside from that she had 2 small vsd and 1 small asd that were not causing any issues. All her other organ structures were there and functioning. She was only on a cpap for a couple days while she recovered from birth and then was on room air. We stayed 21 days in the nicu while she gained strength and weight then we got to take her home. She is almost 9 months old now and is rewriting the textbooks. She is still on room air, her heart is doing phenomenal (requires no surgery and only requires yearly check ups), she gains weight really well (always above what her goal is…she is a chonky 16lbs now), she is working on her head control and rolling over, she engages with us and smiles and makes all sorts of loud noises. She is tube fed still but has no issues coordinating her swallowing. We were expecting a lot of hospitalizations and illness and so far she has had 6-7 respiratory illnesses and only 1 resulted in a hospitalization…and she only had to be on low flow oxygen (no intubation!).
She has two older brothers (elementary age) that love her tremendously. The feeling of devastation has passed for now but we still grieve thinking about our expectations for our baby girl pre-diagnosis versus now, as well as what the future may hold. Reyna has brought us so much joy and love, and has made our whole family more compassionate and just better people overall. Our Reyna Roo is the most vulnerable, innocent, sweet baby girl and she is loved beyond measure.
We know our situation is not common for a full trisomy 18 baby and we know things can change drastically and unexpectedly…but positive stories do happen and there is still hope! One day at a time.
Reyna Roo – A Surprise T18 Diagnosis
