Experience stories

A Closer Look at NIPBL: Maya


When Maya was first born, she did not have the same features she does today. Her nose was triangular and upturned and she had a small head, but her eyebrows were perfect.

In the delivery room, the doctor dismissed my worries over her low birth weight (4 pounds, 12 ounces), but a geneticist did come see Maya upon the neonatologist’s request. He told us there was something he wanted to test for.

It wasn’t until the next day that the pediatrician told us that she was being checked for Cornelia de Lange Syndrome (CdLS). My gut told me something was going on, so I calmly prepared myself for it. At this point, I knew nothing about CdLS and did not wish to. While we waited the weeks for the test to come back, Maya’s eyebrows grew in thicker and together, preparing me even more for this certain diagnosis.

Weeks went by and we received a call that Maya’s results were in. We were told that she had a certain variant on NIPBL that had never been found to be associated with CdLS. After testing for the mutation in my husband and me, it was determined that the variant was new to Maya and the diagnosis made.  is was actually the  rst time I could handle researching CdLS and learning about what had stolen so much from my baby. It was then that I came to terms with what we would battle for the rest of her life.

So far, Maya’s biggest issue is eating. She will take tastes of food and sips of water, but her main nutritional source is her G-tube. I worry that she may never eat fully by mouth, but I also am thankful that when Maya could not do this herself, there was a way to feed her. No parent envisions his or her child having a feeding tube, but it’s been our biggest blessing. Maya has grown so much since it was placed. At just over a year old, she can now say “mama,” “dada,” and “bye bye.” Some days she babbles lots, and some days she doesn’t say a word. She still isn’t crawling or pulling up, and has no limb differences.

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Maya’s mom, Rachel
Maya’s mom, Rachel

In the delivery room, the doctor dismissed my worries over her low birth weight (4 pounds, 12 ounces), but a geneticist did come see Maya upon the neonatologist’s request. He told us there was something he wanted to test for.

Page history
Last modified by Gerritjan Koekkoek on 2021/04/08 13:44
Created by Gerritjan Koekkoek on 2015/11/06 17:13

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