Rett Syndrome

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The pain of watching your kid and your grandkids suffer. Never knowing if this will be the last day with my grandkids.

#PTSD #RettSyndrome #CCHS

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Our Journey to Diagnosis

Jordyn-ann 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 didnt 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 didnt sit up until 12 months old as well as didnt walk until 17 months as well as having visual impairment (Optic Optic hypoplasia and CVI). She struggles with balance, coordination, depth perception, and weakness and has to wear AFO braces. She is also nonverbal and cant speak a word to us, she just turned 4 on Oct 28th.

Some doctors wanted to diagnose her with just having autism and dismiss her…they didnt 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 #AngelmanSyndrome, Pitt Hopkins, or #RettSyndrome.

After seeing several different geneticists and doctors, with some little diagnosises, 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, 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 #FootDrop.

At the end of 2017, we were feeling lost but didnt 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 thru 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 (whole exome sequencing and still waiting on 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.


The Next Step in Our Journey: A Path to Finding other

Jordyn-Ann Was born in October of 2014, she struggled from day 1. It was once thought she had #AngelmanSyndrome, #RettSyndrome, or Pitt Hopkins syndrome. She had severe reflux, apnea, jaundice, she even had to be hospitalized at a week old in the PICU. She struggled with regulating her own body temperature, especially during illnesses which would cause her fever to spike to 105. Her mysterious and odd limb movements started at 6-7 months old.

She has seizures, global developmental delays, absent speech, balance and coordination issues as well as other issues.

I got a call recently from Duke University at the #Undiagnosed Diseases Network that said my daughter has 2 ultra rare De novo gene changes that has not been previously recorded or found in another human, both combined could explain all my daughter’s symptoms.

CHD5 has a significant impact on brain development and function, they tested this on mouse models. It would explain all of her neurological deficits and severe Autism.

DOCK10 which helps with immune system function. It could explain her high fevers, allergies, and immune system issues.

We want to find other families that have either or both gene changes. We also want more research on these ultra rare gene findings.

I will never give up and I will keep fighting from my little Warrior princess.

It means the world to me that she is no longer undiagnosed but ultra-rare instead. We went from searching for a diagnosis to now searching for other families with these ultra-rare Gene changes.

Now our real mission begins.



It's hard as a mother with boys that have a rare disorder that the doctors dont know much about!

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