Kierra met another little friend today that is diagnosed with the same disorder that she has. Kayla is 2 yr. old, almost three, but she easily held her own beside Kierra 🙂 Her parents traveled from Indiana to do some very informative testing at LGH here in PA. She had just returned from an MRI when we got to the hospital to see her, but she still smiled and wiggled and blinked her eyes coquettishly…just like Kierra 🙂 They even locked their arms together for awhile and lay there happily beside each other, while we parents visited and loved watching them.
There is a marked difference between the two little girlies though. Of the 27 known cases of Yoder Dystonia, this little Miss Kayla has no kidney disease at this point. Not even a trace. Last year, The Clinic Dr.s and scientists met with more Dr.s and scientists that were discovering more children with Yoder Dystonia, but were calling it Hershberger Syndrome instead. They pooled their knowledge together, and discovered that little Miss Kayla had a different mutation to one of her genes then any of the other children did.
To make it all a little easier to understand, good Dr. S. explained that while Kierra and every other YD child has a mutation in genes that affect the kidneys and the brain, Kayla only has a mutation in the gene that affects the brain. These genes are right beside each other in our gene pool, so he described it like shuffling a deck of cards. Sometimes the cards stick together. That’s what happened to all the children except Kayla. The kidney gene and the brain gene both became mutated or ‘stuck together’ and were affected. Kayla’s gene broke off before it reached the ‘kidney mutation point’, so her kidneys look pristine.
Isn’t that just amazing!?!
Now they need to find a child with only the kidneys affected and not the brain! 🙂
So I’m not sure what all this means in finding help for these kids, but it is WAY ahead of where they were a few years ago. Knowledge is power. At least I hope so in this case 🙂
These children’s Cerebellum in their brain deteriorates at a very high rate of speed. Kierra’s may perhaps be at the deterioration stage of an 80 yr. old. An MRI would likely show more, but this is an estimation from other research. Maybe that is why she has trouble sleeping 🙂
They are hoping to have a reunion for all the Yoder Dystonia children this summer sometime. I am very excited about it! They also hope to have more information to share with all the families. Maybe I will discover then if my memory served me well or if I got it wrong in my brain’s computer as i listened to the Doctor’s knowledgeable explanations 🙂
The more medical term for YD is called NCS. This stands for
That makes more sense to me as well 🙂
So maybe technically we would say that Kayla has Cerebelo Syndrome and Kierra has Nephr Cerebelo Syndrome 🙂 Either way, they were very much alike and very much different. Two lovely little sweetie pies.
On the way home we picked up a bunch of medication refills for Kierra including her upgraded brand of pepcid. She is still having problems with a GI bleed and is still spitting up blood sometimes. We are still waiting on some test results. Poor girl. Her stomach muscles must be getting worse, since she is vomiting 3-4 times a day. Thankfully, it’s not more then a few mouthfuls, but it’s still traumatic and uncomfortable and yuck for her.
We are hoping to change to a different style feeding tube that will bypass her stomach and take her feed straight down to her intestines so she doesn’t have to vomit as much. She is loving her bed and her new Bird and Flower bedding very much these days!