We have had a really happy, healthy second year with Claire! She’s been to the beach and is learning to crawl. She loves music, especially Raffi, and is very ticklish.
At our 20 week anatomy scan, we were shocked. Our baby’s eyeballs were so underdeveloped, the doctor wasn’t sure if they were there at all. She appeared to be developing mostly normally other than her eyes, so we did an amniocentesis the next day to try to see the cause of her eye deformity and planned to raise a blind baby girl. We named her Claire because it means “light.”
Our amniocentesis results came back a couple weeks later and were even more shocking; our baby girl had full trisomy 13. When we asked about the prognosis, our genetic counselor said gently that, “those babies don’t usually live very long once they’re born.” He suggested we check out the SOFT website once we were ready. We were totally crushed. We had a fetal echocardiogram done and they found a moderate grade VSD.
We tried to savor her time in my belly. We played her music on headphones, I ate sweet foods and planned for her birth. We researched a lot and realized we were most afraid of her being born, going to the NICU, and dying after painful interventions. So, we decided on comfort care with an NG tube for feeds if necessary so she wouldn’t know hunger. We would let her lead the way and show us what she was strong enough to handle.
We monitored the pregnancy closely to see if we needed to induce early to meet her alive, picked a neonatologist which was also a palliative care doctor, and she was born spontaneously at 38 weeks 6 days, pink and crying with great APGAR scores. She weighed 6 lbs 13 oz.
The hospital did an echocardiogram when she was born and found that her VSD had healed itself! We held her with a bili-blanket to help her jaundice, had an NG tube placed to help her get milk, and brought her home at four days under our wonderful community palliative care. We used an Owlet monitor to help us know when her obstructive apnea was kicking in so we could reposition her. After a month, she seemed so strong and content that when she aspirated some milk, we took her to the hospital for interventions. To us, this was following her lead as otherwise strong and happy but needing medical help after choking.
Long story short, her first year was a lot of troubleshooting
with GI difficulties, in and out of the hospital. She even wound up on TPN for awhile at home. But ever since starting her on blended solid foods at twelve months old, her GI system has worked so well and we have had a really happy, healthy second year with Claire! She’s been to the beach and is learning to crawl. She loves music, especially Raffi, and is very ticklish.
Now we are planning her second birthday party and we feel so lucky to still have her with us. We will always try to let her lead us for what she needs, medical interventions or comfort care, and pray we have many more happy, healthy and comfy years with her.
Written by Emily L, Claire’s Mom