Its hard to imagine that one doctor’s appointment could completely break a person. On October 14, 2010, I walked into a Maternal Fetal Specialist’s office, happy and whole.
I walked out shattered, lost and wholly broken. In the span of two hours, I had forever changed and would never, ever be the same again.
Anxiously awaiting my second child, my obstetrician recommended a specialized 4D Ultrasound during my eighth month of pregnancy.
I had zero complications this time around; I felt wonderful but was simply measuring small.
With a pink nursery nearly ready for my daughter and our hearts already deeply in love with her, we were not prepared to hear that anything was wrong.
Words that the doctor spoke to me and my husband after the ultrasound were completely foreign and cold.
We could not comprehend the meaning of “incompatible with life” and “lethal genetic disorder.”
We immediately opted to have an amniocentesis done; not to change our course of action, but to see exactly what we were dealing with.
We would have to wait several excruciating days to learn the fate of our baby girl, until we had the test results back.
From the ultrasound, we saw on the screen what couldn’t be denied…heart, brain, kidney and limb defects.
We also saw in great, defined detail, the beautiful child that we desperately still wanted with all our hearts…no matter what.
Days of agonizing waiting finally gave way to great hope. The lethal genetic disorder our baby was thought to have was ruled out.
We had a shot at life, and that was all that mattered. We were told there would be more genetic testing to come and continuous monitoring of her tiny heart.
There were still many unknowns, but I knew I’d fight for her to no end.
We adjusted our sails and did everything the doctor said for the next month, until we finally met our perfect miracle face to face.
Her brain and heart defects were thankfully not life-threatening. She was tiny, and did need very close monitoring.
After 21 days in the NICU, we were able to bring her home; our precious gift of life.
The call came from our Genetics doctor a few weeks later; it was confirmed that she did have a rare genetic disorder.
As we had been told by our NICU physician that her issues likely stemmed from an infection, the news of this diagnosis struck me like a punch to the gut.
The wind was completely knocked out of me.
There was no way to predict her future from this diagnosis, but we learned that most children with Chromosome 1q43q44 deletions gain only very limited independence.
As crushed as I was to receive this news, knowing her life would be filled with challenges, my child was HERE with me.
She had achieved the impossible upon taking her first breath, and I knew I’d do whatever it took to give her the very best life.
The compassionate voice on the other end of the conversation reiterated to me that she was still the same beautiful baby she was before we spoke.
His kindness during that turning point in my life has remained with me over the years.
In the beginning, there were many tears. Years spent soaking in all the information my brain could hold, and then striving to learn even more.
There are still tears today; but they flow less frequently now than at the start of our journey. After nearly 8 years, I’ve grown stronger because of her.
Grief over things she’s unable to do, like walk and talk, does hit heavy from time to time.
However, I look back on how far we’ve come since her beginning and that grief quickly turns to gratitude!
I’m continuously learning. From new therapy methods to alternative medicines – I constantly devour and process information that could potentially benefit my child.
I never thought I’d be a stay-at-home mom; a pro at dealing with specialists, therapists, medical equipment and seizures.
Having been given my precious daughter, and learning unyielding strength in the process has made me the person I was always supposed to be.
My heart has changed. Everything has changed.
As tough as it can be some days, I embrace this life and see incredible beauty around us that others can’t truly comprehend.
The touch of her tiny hand on my face, the love I feel when I hear her laugh, and the pride that swells in me watching her accomplish impossible feats makes all this worth it.
There’s no place I’d rather be. I was once broken. From that dark place, and because of her, I have become strong.