Ever heard of AV9?
Me neither.
Until Ohio. Until gene therapy headed into the neighborhood of Sanfilippo.
Last Sunday, we packed the kids, the strollers, and the air mattresses. We shipped Ellie to grandma’s and headed off on our seven hour journey to Columbus, Ohio. We settled into suite 319 at the Ronald McDonald house and thanked God for a good car ride.
After a sleepless night, we packed up the kids and crossed the street to Nationwide Children’s Hospital for our six month visit. The two day visit consisted of developmental testing, physical ability testing, and a physical exam.
The kids did great, all things considered. And, so did mom and dad. I even think we laughed and smiled a bit.
To help you get a better understanding of Sanfilippo, let’s review. Jayden and Brooklyn were born missing an enzyme that is responsible for ridding the body of mucopolysaccharides. Imagine your house represents your body. Each week, (if you live in America) you buy food, eat it, and collect trash.
Like wrappers.
Or old, rotten food.
Stinky diapers.
Basically things you don’t want piling up around your house.
So on trash day, you roll out your collected garbage to the curb for the garbage man. When you get home from a long day at work, you grab your empty cans and roll them back and start the process over.
Except on those holidays, right?
Or those days that you forget to put the cans out.
And when that happens, the trash builds. It starts to stink. It starts to accumulate. And over time, if the garbage man never comes, the trash begins to erode the very things it sits on. [think the tv show, Hoarders....yikes.]
Well, Jayden’s and Brooklyn’s houses don’t have a garbage man. There is no Mr. Enzyme coming to pick up the stinky mucopolysaccharides. And so they sit. In the brain and central nervous system and destroy it.
And, as you guessed, if Mr. Enzyme never goes down their street, they get an eviction notice.
Condemned.
Outrun by trash.
Which is why the residents of Sanfilippo, and neighboring friends and family, have started a petition to get these darn kids some garbage pick up. And this year, after millions of dollars, and decades of research and development, a garbage truck has been found that will fit down their street.
We are still in negotiations about the old, piled up stuff. And, it’s still unknown what the condition of the yard will be after years of garbage sitting on it, rotting it away.
It’s the brain, and there’s a lot we don’t know about the brain.
And mice? Well they are not humans.
Enter onto the scene: clinical trials. Doctors are choosing a few “homes” to send the garbage man to so they can watch what happens.
There is no guarantee the garbage man will be able to navigate the tight roads.
There is no guarantee the grass will ever grow again.
There is no guarantee that the house will even know what to do. I mean, they have never HAD a garbage man before. Will they remember to take the trash out?
So, Ohio is essentially a tryout. The natural history study is collecting data from 20 kids to see what neighborhoods will benefit most from getting Mr. Enzyme. Did I mention there are many neighborhoods, and for a number of reasons, Mr. Enzyme can’t put them all on his route? At least not yet. Not until he runs a number of test routes and the bugs get worked out.
First cuts are going to happen any day now. Parents are waiting. And instead of looking out the window for the garbage man, we are watching for the mailman. He will be stopping by with a letter letting us know if we made the cut.
Positive.
Negative.
Each kid in the study is being tested for antibodies. In sticking with the garbage man story, it would like the home has no road access for the garbage truck. The house would actually attack the garbage truck upon arrival.
Clearly, they are not going to send Mr. Enzyme and the garbage truck to an ambush.
So we wait.
Positive. We are out.
Negative. We pass the first cut.
To be honest, there are more questions than answers. There are more unknowns than knowns about the study, gene therapy, the body, the brain, and the benefit it will have, if any, for Jayden or Brooklyn.
They may have too much trash.
I believe with all my heart that in the next decade, every house will get a garbage man. There will be prenatal testing. And, if a newborn is missing a garbage man, with a quick shot, they will get one. Forever. There will never be a week that goes by he doesn’t show up.
Even on holidays.
And, AV9?
It's the model of garbage truck, I guess.
Click on the link to learn more about clinical trials: NATIONWIDE
Click on the link to learn more about Sanfilippo: MPS SOCIETY
