Advocating for Halle began the day she was bornPosted March 24, 2021
When Halle was born and they placed her on my chest, I immediately knew something was different. As the labor and delivery nurse was wiping her down I remember she said to me, “What’s wrong sweetie? You look worried.”
I noticed Halle felt floppier than my first two kids. She also had very large gums, long fingers, and toes. When I held her, I could feel her spine felt curved. Every doctor who checked on us that first day I’d say, “Have you ever seen gums like these? Does her neck control seem ok? Do you think her spine feels weird? Is this normal?”
They would brush me off. I pushed for a genetic consult before we were discharged and Halle was diagnosed with hypotonia, hypermobile joints, hip dysplasia, kyphoscoliosis, and hypertrophic gums. We began to treat her symptoms immediately while searching for her diagnosis.
After running through a few geneticists, we found her diagnosis through whole-exome sequencing. Halle suffers from Myopathic Ehlers-Danlos syndrome (mEDS)
I am hopeful that my perfect girl will avoid some pain due to our early diagnosis. I am hopeful that by spreading awareness Halle will have better treatment available to her as she reaches adulthood. I am also hopeful that if you are reading this, you trust your gut every time. If something feels wrong, it is wrong. If a doctor does not listen, then keep looking for one that will.
Tags: advocacy, awareness, mEDS, myopathic EDS
Categorized in: Stories