Written by: Maddy Rose
I began my pregnancy journey like so many moms, excited and full of joy. I was thinking about names and how life was going to change in the best way. At my 12-week visit we did the genetic testing, and I will never forget the doctor calling me to inform me that I (my child) had Fragile x {Fragile X is a mutation of a single gene — FMR1 — on the X chromosome and is inherited genetically, often unknowingly. Everyone has the FMR1 gene on their X chromosome, but when a mutation occurs, it can cause intellectual disability, behavioral and learning challenges, and various physical characteristics.}
We then went to a genetic counselor who explained this gene. The doctor told me I should have an abortion and that my child's life would be horrible. I left the visit sobbing and looking at my husband with such fear. Everything else to this point had been perfect; she was growing on track, with no other genetic abnormalities. I was scared out of my mind and took a deep dive into this gene. (This is not the route I would recommend, but I was armed and ready).
I found a wonderful doctor at Columbia who did an amniocentesis test. A week later we met with a wonderful genetic doctor who broke everything down and was so kind. She gave me such hope. The only difficulty I had during my pregnancy was high blood pressure.
38 weeks after my second run to the hospital due to blood pressure, I was induced. After a grueling 18 hours, it was time to push and Lily was born. I didn't get to kiss her before they took her away to be rushed to the NICU due to yellowing and the umbilical cord around her neck.
I was so drugged and dazed from giving birth it took me a minute to realize my child wasn't with me. I started sobbing until a wonderful nurse came over and told me it would all be okay.
Three days later, and after a fight with the NICU doctor, our Lily came home with us. She was beautiful and perfect. It wasn't until we actually got home I realized the battle ahead of me. While still having all the fears of a new mom and living through the pandemic, I was mentally and physically exhausted and in a deep depression.
I didn't notice anything off until our 17-month milestone appointment and all her milestones were a little behind. I had to
beg her pediatrician, who really thought Lily was fine, to get her Early Intervention
. And so began our journey of having a child who was developmentally delayed.
Many doctors made appointments with specialists, genetic,ists and therapists that were both great and horrible. After two years and learning as I previously stated, Lily's second x gene is mutated, which was a shell shock to the body - it was something
I knew what was wrong with all her behavioral issues but didn't want to admit it.
I still have good days and bad days, but when she smiles or giggles or I watch her learn something new or a new word it took her so long to learn, I am filled with joy. I'm only at the beginning and learning along the way -- I now know it is okay to be sad. It is okay to question everything.
You can follow Maddy Rose and her story using the links below!
Facebook: https://www.facebook.com/rosedolci
Instagram: @unbrokenbeauty813
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