Mama Bear Knows Best: A Jordan’s Syndrome Story Part 1

Life as we know it has been shut down and completely changed for over a year. When the global pandemic struck, our world was also completely turned upside down. My daughter was born a week before mask wearing, Clorox wiping, and social distancing became the new norm.

I remember looking at an ultrasound picture after one of my anatomy scan appointments, and a strange feeling overwhelmed and encompassed me. Everything checked out medically, so I brushed aside my emotions and “carried on.”

Hailey was born a month early. Her delivery was supposed to be an easy-peasy C-section, but, like many of the events following her arrival, it did not go smoothly. The doctors struggled to get her out (which makes sense in hindsight). It was almost as if she was fighting to come into the world, knowing what obstacles lie ahead in her future. She made her entrance in a dramatic and grand way…keeping us all on our toes from the moment she got here.

I was convinced wholeheartedly that I needed medical answers, like right away. I saw only a glimpse of my beautiful baby girl before she was quickly swept away. She was taken to the NICU, to ensure her vitals were ok and that she was breathing appropriately.

That was the last time I saw her until the following morning.

I did not sleep an entire wink. I was busy on Google- trying to convince myself that she was ‘typical,’ but I could not shake my overpowering instinct that the doctors had missed something.  I spent the next few days dividing my time between Facetiming my son at home, visiting my daughter in the NICU, asking the nurses if they agreed with me that something was not quite right, and stepping into a new role as “doctor-researcher-Google expert- self-proclaimed geneticist.”

Nothing quite stuck, and no one completely agreed with me, but I asked the NICU doctor to please repeat genetic testing.

We finally went home after a week-long stay at the hospital. We received a phone call that her genetic testing came back and all was “normal.” I was not convinced nor reassured.

I spent every waking hour, insisting to my family that I take her to the doctor. Because of the uncertainty that was felt around the globe due to Covid, doctors were mostly doing telehealth visits. I did not feel that did her justice.

At one of her in-person check-ups, it had shown that she was not gaining weight. We had to come weekly to ensure that she was thriving (although I was upset about this set-back, I was slightly pleased that she would have to be seen in person). While there, I expressed to one of the practitioners in the pediatric group that I was concerned about Hailey. She never said anything to indicate that she agreed, but she gently put her hand on my shoulder and told me to focus on getting her to gain weight first and foremost.

I knew she agreed. From that moment on, I did not make further appointments with her. Subconsciously, I knew that she knew and even though I wanted answers, I think that I was not truly ready to actually hear it.

Months went by, and I felt my throat and chest tighten every single time my phone pinged with an email containing daily, weekly, and monthly reminders about the milestones my growing baby should be meeting. I was growing sick and tired of hearing everyone telling me to give her time, she will catch up, she was premature.

I searched the internet endlessly-I could not find pictures online of other children that resembled my daughter.  She was not meeting many milestones and her body didn’t feel strong in places and stages when it was supposed to.

I decided it was time to take her to a geneticist. He walked into the room, and he looked her up and down. There was no gentle nature in his delivery; he came out with it right away. Your daughter has Achondroplasia. She has dwarfism.

Are you sure? Are you positive?

The doctor told me he would do bloodwork, but it would only confirm that he was right. I immediately broke down. There was an answer, but again, I had a hunch that he was simply not correct.

Click here for part 2!


About the Author: Michelle Fruhschien 

I am just your average Mama trying to make the world a more inclusive place by sharing stories about my experiences as a mother of two children: one who is “neurotypical” and one who is “neurodiverse.” Let’s work together to raise awareness for my daughter and her friends who have been diagnosed with a rare genetic syndrome called Jordan syndrome. Jordan syndrome affects about 160 individuals worldwide. Through ongoing research, treatment is just a few years away. The intent for a cure is in the near future! Please share this journey with us as we learn more about our child, others living their lives with children who have been diagnosed with rare diseases and illnesses, and other peoples’ journeys. Together we will work to make this world a happier and more accepting place!

Read more on Michelle’s blog: https://mamabearforrare.com/ 


 

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