Advocacy, Special Needs

“She still looks funny to some of us”

Let’s back up, just a bit. Our stay in NICU was only a 38 day stay. Don’t get me wrong, I know many families endure much longer NICU stays, but that does not mean that it was not traumatic for both me, and Kaydence. I watched my baby be poked and prodded, test after test, trying to figure out why my baby just would not eat. It felt like an eternity.

One day we had an amazing nurse, and she expressed her concerns to the doctors that day. She advocated that they look harder, “why is this baby still not able to suck on a bottle? there has to be a reason!” Her speaking up led to an echo where we learned about Kaydence’s heart defect that would require surgery soon. The first of many devastating blows. We continued working on feeding, and eventually she was able to build up enough strength to consume an adequate amount of formula, and we were going to be released. I remember feeling relieved. We had our answer, and now knew what we needed to do to fix it….or so I thought.

I will never, and I mean never, forget the comment that the nurse practitioner made to me the day of Kaydence’s release. Here I was, so excited to be going home, feeling a sense of relief, feeling like it was finally going to be time to bond with my newborn at home. But then, like a ton of bricks, “she still looks funny to some of us, you should see genetics. We suspect that it could possibly be Cornelia de Lange Syndrome, but we do not want you to stress. We are not positive, and well, it would not be a good outcome.”

And there, right there in that moment, I had nothing to say. I froze in fear, and panic. Here, for the last two weeks, I was under the impression that my child just needed the holes in her heart repaired, but that turned out not to be the case. While I look back on that situation and know that it was not handled in a professional manner, those words still pierce my soul. That was the day I knew. At the time, I did not want to believe it, but deep down I knew. That was the day that I began mourning the loss of the child that I though I was going to have. Every dream and aspiration I had for my child, in that moment, died. I knew that her life would never be that of a typical child. I knew that the milestones she would be reaching would not be those of children her age. I spent years mourning that child that I though I was going to have.

I used to hide behind this strong, fearless, persona. But lets be real. I spent every day in a living hell, fearing what would come next. My anxiety and depression took over my life, and very few knew that it even existed. I was ashamed to have those feelings. It made me feel like I was giving up on the child that God had given me. Looking back, I know that I was morning. I had suffered a great deal of trauma, and I was dealing with it the best way that I knew how.

It took six months to finally receive a diagnosis. Her bloodwork was sent off to a lab in Chicago. Several months later, I received a phone call from the genetics team that we had followed up with. (Per the nurse practitioners recommendation…) Kaydence had a gene deletion on the NIPBL gene. This confirmed her diagnosis of Cornelia de Lange syndrome. And this my friends, is where our journey really began.

CdLS Foundation website: https://www.cdlsusa.org/

-Brooke 💜

Advocate Like a Mother, LLC

Advocate Like a Mother, LLC offers a free consultation to help you understand how an Advocate could help your child receive the education that they deserve.

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4 thoughts on ““She still looks funny to some of us””

  1. You are feeling the things we have all felt when we learn of this genetic disorder. You are not alone. Your baby will do all the things she was meant to do in good time. In the meantime, learn all that you can and keep being an advocate. Much love and support from a CdLS momma ♥️

  2. We are in together. Thank you very much for sharing your story. You are my inspiration. Keep up the good work.

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