This is part 2 of this story, click here to read part 1!
Michelle had taken her daughter to see a geneticist who promptly diagnosed her with achondroplasia. He ordered blood tests to confirm but Michelle felt that something wasn’t right about his hunch.
He had referred us to see a pediatric neurologist to check for hydrocephalus due to her large head size. Without hesitation, an appointment had been made for the following week.
In the meantime, we waited 7 weeks for the genetic test result. I mentally checked off every day as if it was a list that brought me one step closer to an answer. I heard nothing.
I called the geneticist’s office and asked for results. They nonchalantly told me that the results had been there; it had just been sitting there- an answer that would change our lives.
They told me they would call back in an hour. I waited. One, two, three, four, hours had gone by. Nothing. I called again. They were closed for the day. I went to bed, without confirmation.
As soon as their phoneline opened up, I called, redialed, and repeated my call. I must have phoned them hundreds of times until someone, anyone, picked up.
It was so simplistic when I spoke with the genetic counselor. Negative. I never even heard from the geneticist. He was genuinely disengaged and never gave me the courtesy or acknowledgement that he misdiagnosed my daughter. My faith and trust in the medical system was quickly fading.
I knew it all along. But now what?
I found myself at the neurologist the following week. All the testing she had done prior also came back normal, but she agreed with me. Finally! Someone agreed with me. She did further genetic bloodwork, and again, it was a waiting game.
A month later, I received the call as I was on my way to take Hailey to her physical therapy session. My knees buckled, literally, and I fell to the ground. They hadn’t even told me anything, but I knew.
My husband and I went to the office later that day. The pediatric neurologist sat us down. She had done her own research, supplied with printouts and images from the internet. She openly admitted that she never heard of it before.
My baby girl was diagnosed with a rare genetic syndrome called Jordan’s syndrome (ppp2r5d). I don’t remember much about the conversation that followed her diagnosis. I do recall feeling slightly dizzy and as if my body and mind had separated. Some vivid phrases and information did stick with me. Rare. Discovered in the last 5 years. Only 30 other individuals in the USA have it. 160 worldwide.
We had answers, but with that, there were many new questions. I searched the internet and found very little information. What I did find became one of the best parts of our journey. We instantly found the Jordan Syndrome Facebook group and were greeted by parents all over the world. They welcomed us and told it would be ok; we also got a welcome packet. It is important to note how much love and gratitude I have for Joseph Lang. Without his love for his daughter, perseverance to find answers, and his knowledge and resources, there would be a lot of families still sitting in the dark. Mr. Lang is the man responsible for getting genomic sequencing done for his daughter, putting Jordan syndrome on future genetic panels. So, Mr. Lang, I tip my metaphorical hat to you. One of the first things I remember about that was being able to feel an instant connection. The other thing I remember is the information telling us about the research being done and how we are closer than ever to a treatment and cure. I felt conflicted because I grieved the loss of my typical child, but I also felt such hope looking into this new, unique journey.
14 months have passed. I have shared and exposed my soul with family, friends, and now, strangers.
I also took my daughter back to the pediatrician who I was scared to see in the beginning of her journey.
She told me that in her entire career, she has never seen better advocates for a child than my husband and me. I knew I always liked her.
Call it what you want, but there is nothing like the intuition of a mother.
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/