Piper’s Story: Premature Birth Reveals Metopic Craniosynostosis, Chromosomal Deletion

This is a story of a very special little girl.

It was at my 20 week ultra sound  that my boyfriend and I  found out we were going to be having a girl. We were beyond excited. We also were told that she had cycts on her kidneys. I was referred to a specialist and was closely monitored throughout my entire pregnancy. Our daughter, Piper Isabelle, made an entrance into this world on Sept.8 2014, six weeks earlier then we expected. And she was in need of urgent help.

No one expected her to be this sick.

I always imagined the doctor putting her on my chest, seeing her for the very first time, but things didn’t go as I pictured. Piper was born struggling to breathe with a collapsed lung. She was whisked away so fast, I did not see her for 5 hours. We were hellicoptered to BC Children’s Hospital to the Neonatal Intensive Care Unit. We spent nearly ninety days in the hospital before our first arrival home. She had so many wires attached to her and was being fed fluid through an IV. She was hooked up to a machine that would breathe for her. I was so happy to finally hold her the next day for only a few minutes.

Two days later she underwent a surgery to drain her kidneys. In the next three months, Piper had a total of three surgeries on her kidneys. Right now she has a pyelostomy, which is basically an opening on her side that drains out onto a pad in her diaper. Hopefully another reconstructive surgery can be done when she is 1 year old. She has “horse shoe” shaped kidneys that failed to separate into two at during gestation, with many twists and blockages, causing chronic kidney failure. We don’t know how long her kidneys will last.

A few more things were noticed during Piper’s stay in the NICU. The plates on her forehead prematurely fused together, a condition called metopic craniosynostosis, causing her head not to grow properly. We are currently awaiting another surgery for this. Every time they found another problem, I always tell myself “this has to be it then, there couldn’t possibly be more,” but there always was, I didn’t know if it would ever end. Piper has a heart defect, hypothyroidism, high blood pressure, reflux, and feeding difficulties. An MRI showed some abnormality of the brain, causing developmental delay. This is when things became hard, I did not know how I would cope.

The genetics department became involved, doing multiple blood tests. They were suspicious of her having some kind of “syndrome.” This was the most terrifying three weeks of my life, waiting for these results. I was in denial. I said that they wouldn’t find anything. But they did. A small deletion in chromosome 7. This particular deletion does not have a name, it is a condition completely unique to her. Because there is no one with the same condtion, we do not know what Piper’s future will exactly look like. We have been told she may stay small, and have very short stature. We will be preparing for extra help at school, she may be slower to reach her milestones. Feeding difficulties were predicted and is something we are currectly dealing with. Piper finds it hard to take down large amounts of milk due to bad reflux and latching difficulties. She is currently J-tube fed and takes very small amounts by mouth.

Piper’s book of medical history weighs more than she does. She is so very complex on paper, and some may think we have it tough. I have chosen not to think about it like that. When I look at her, I dont see any of this. I see a baby that is happy, loving, so eager to learn, and hilarious. She may not fall perfectly on point with everything and be on the perfect percentile compaired to the “norm”. But what is normal? Piper is perfect. She has changed me into a better person. She has brought out the good in so many people, friends and family. We live in a small town and she has brought the town together in so many ways. She is such a blessing. This has been an extremely emotional roller coaster in my life and I kept asking “Why me?”

Always trying to make sense of why this is happening. I believe that Piper was given to me as a gift, and I feel lucky to have her. She has changed my life forever. She’s made me realize what life is about and shown me what love is and what is really important in life. She is here touching the hearts of everyone that meets her. Its terrifying that Piper’s future is uncertain and there are so many things that could go wrong but if anything were to happen, I feel lucky to know her and to be able to spend every day with her. She is the most special and most beautiful little girl inside and out, and we needed each other.