“Our Journey to Diagnosis” by Carolyn Turner
JordynAnn was born after we lost our 7.5 week old son due to severe reflux who passed in December 2013, he was an organ donor. Little did we know, when JordynAnn would be born she would struggle from the very start. From severe reflux, apnea, jaundice, she even had to be hospitalized at less than a week old in the PICU. She then struggled with recurrent 104-105 degree fevers starting at 4 months old and also has tremors and odd involuntary limb movements. The odd involuntary limb movements started around 6 to 7 months old. At this point is when we got a little scared, we didn’t know what was causing our baby girl to struggle as badly as she was. She would have apnea episodes every night. The shrill of her apnea monitor alerting me she has stopped breathing would wake me up from a dead sleep to stimulate her to breathe again. She has global developmental delays and didn’t sit up until 12 months old as well as didn’t walk until 17 months as well as having visual impairment (Optic nerve hypoplasia and CVI). She struggles with balance, coordination, depth perception, and weakness and has to wear AFO braces. She is also nonverbal and can’t speak a word to us, she just turned 4 on Oct 28th.
Duke University called me just recently with the results of her whole exome. They found two rare genes that have not been found in anyone else, just JordynAnn, which both combined would explain her symptoms.
One is CHD5 which could be the cause of her brain abnormalities, diffuse brain dysfunction, optic nerve hypoplasia, autism, absent speech, tremors and other neurological issues.
DOCK10 is the other which would explain her immune system issues and high fevers. Some doctors wanted to diagnose her with just having autism and dismiss her…they didn’t want to figure out what was causing her other complex medical issues. I fought that diagnosis because I knew Autism was not the only reason she was struggling. Some of her other doctors also agreed with me, there was more to it than JUST autism alone.
I always wonder what is going through our little girls mind.
It was once thought she had Angelman syndrome, Pitt Hopkins, or Rett Syndrome.
After seeing several different geneticists and doctors, with some little diagnoses, we still couldn’t figure out the bigger picture of it all.
She has Severe Autism, severe expressive and receptive language impairment, gliosis scarring, seizures, recurrent fevers, developmental delay, Optic Nerve Hypoplasia, Cortical visual impairment CVI, absence of speech, tremors, brain abnormalities, hand wringing, teeth grinding and jaw clenching, breath holding and hypo ventilation episodes, involuntary limb movements, nonverbal, sensory issues, weakness/fatigue, coordination and balance issues, toe walking and foot drop.
At the end of 2017, we were feeling lost but didn’t want to give up. We got a geneticist named Dr. Barbouth in Miami, Florida through the Miller School of Medicine, we even drove 3.5 hours to see her…she listened to my concerns and suggested the Undiagnosed Diseases Network. She said it wouldn’t be easy and there was no guarantee she would even be approved but I had to try, it was our last hope.
April of 2018, we got word she was approved for the study at Duke through the Undiagnosed Diseases Network, I cried. I felt like we had our hope back! Our trip was scheduled at the end of July and we stayed there a week. She had WES results.
It has been a roller coaster ride and it still is, still waiting on an official diagnosis and not having families to relate to, sometimes feeling alone in this, wanting a name for this thing that has been causing my precious little girls struggles but we keep fighting. I am her advocate, her voice. The UDN was and is our last hope.
This smile, her laugh, her being carefree and spunky lights up our world. She is our JordynAnn. Whatever is thrown at her, she shows us to never give up and how to be a fighter.
If you are also struggling with a search for a diagnosis for yourself or your child, never give up, keep fighting! You are either your own advocate or the advocate for your own child.
Please follow our page on Facebook:
JordyAnn’s UDN Participant Page
About the Undiagnosed Disease Network (UDN)
Carolyn’s Contact Information:
angeljaxson2013@gmail.com
ABOUT RUN
RUN stands for the Rare & Undiagnosed Network. We’re a group of advocates, patients, families, researchers, and healthcare providers who share the same mission and vision: To empower rare and undiagnosed patients and their families with genomic information and community through advocacy, networking and support.
Learn About Undiagnosed Rare Disease Day on April 29th!
Contact information:
Gina Szajnuk (Zanik)
Co-founder and Executive Director
E: ginaszajnuk@gmail.com
C: (310) 883-4353
