Now there are eight

Patient Stories

Now there are eight

It’s night and my wife and I are emotionally drained. The Tess webpage is live and it’s getting shared. While happy it’s gone viral, we’re reeling from how much mental effort it’s taken to make the jump. To really try. To not give up.  

Then my phone buzzes and there’s a new email in my inbox. “To whom it may concern,” it starts off. “My name is Mike Fountain and I conduct research at Baylor College of Medicine in Houston, Texas. I believe I have some answers for you and Tess.”


His message continues. “I work with this gene and these symptoms and will publish our work soon. I know of other patients.”

I know of other patients.  

The next day, we’re talking to him. Mike Fountain at Baylor. Mike’s been working with a doctor and researcher from Baylor and Texas Children’s Hospital named Dr. Christian Schaaf, and their study is all about USP7, the exact gene where Tess has a mutation. There are seven kids they know of with it.

Seven other patients.

Mike tells us about the other seven. They’re from all over the world, some in the U.S., some in Europe and Asia. They all have the same developmental delays and intellectual disabilities as Tess. Several have hypotonia, or low trunk strength, which Tess also has.

Mike asks tons of questions about Tess. Does she have seizures? We thought so, but all tests are negative. Is she autistic? Man, I wish we knew. We tell him about her cortical visual impairment, the visual-processing issue and our suspicions she has an auditory processing issue as well. We talk about her loving and cheerful nature, her voracious appetite at meals, and her tendency to bite when she’s pissed off.

In the end, it’s a match. We are so thrilled that we are laughing and crying at the same time. Mike is satisfied that Tess’s symptoms and mutation line up with his patients. He’s certain Tess belongs in this group of seven.

Now there are eight. 

The most mind-blowing thing about connecting with Mike is it only took about 12 hours. We created Tess’s page on the morning of Wednesday, Aug. 12, set it loose on Facebook and Twitter, and literally that same evening, Mike found it and emailed us.

Mike found Tess on Reddit. Reddit, in case you don’t know, is essentially an online bulletin board. It differs from Facebook and Twitter in that it sorts its content. It uses these things called subreddits, and you can search subreddits by category. Turns out there’s a subreddit for genetics: r/genetics.

So, who posted to Reddit? I tracked down the original post and it’s from Harry, a friend of my sister, Eve, in Brooklyn, NY. We’ve met and hung out with him a few times, but it’s been probably six or so years since.

When Mike and Dr. Schaaf’s research paper finally came out on Sept. 11, I printed it out and pored through it, with Wikipedia by my side. Didn’t help. I still mostly don’t get it. Even its title is hard to sift through: “USP7 Acts As A Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder.”

I might get this wrong, but here it goes. Humans need to recycle proteins. The recycling happens in our cells. If people’s cells don’t do this recycling right, those people can get diseases. USP7, the gene where Tess has a mutation, and where all of the eight have some kind of issue, acts as a rheostat to make the recycling happen properly. USP7 is like the rheostat that controls your lights, in one key way: it allows precise fine-tuning within those cells, so the protein recycling happens just right. And what Mike, Dr. Schaaf and their colleagues have concluded is if you have a disruption in your USP7 gene, you can’t recycle proteins right. You wind up with a neurodevelopmental disorder. You have intellectual disability and probably autism and seizures.

Their paper talks a lot about a certain protein called WASH, as in what you do to your clothes when they’re dirty. The USP7 gene controls how much WASH activity occurs. If a cell gets too much activity from the WASH protein, it’s a problem. If a cell gets too little activity from the WASH protein, it’s a problem. It must be just right.

With all this talk about the WASH protein, the final sentence of the paper is the one that makes the most sense to me. The final sentence says this: “Finally, our results suggest that chemically activating WASH in these patients may have therapeutic potential.”

In other words, if the USP7 rheostat is busted, maybe you can add WASH to these kids. Figure out how much they need, and give it to them.

What happens now? 

Mike and his mentor Dr. Schaaf are both pretty juiced. This wasn’t a one-shot deal, where they publish this and then hang up their guns. This is only the beginning. Tess is going to join this group of patients. She’ll be part of the next study, and it looks like everybody wants to get started right away.

We need to find more patients. That is what has been asked of us. Get more shares and find more people. It’s good to have eight patients, but they need more. And we know they’re out there.

Please share this. This is what social media is for. Tell everyone you know, even if you don’t think it’ll help.

There are families out there in the dark. Their kid has an intellectual disability and low trunk strength, with signs of autism, maybe. They’ve seen a million specialists, they have no name for what’s going on and they don’t know how to help their child. Perhaps they’ve mapped their kid’s genome and know about USP7, but they’re ready to throw in the towel. To shrug and say, well, we’ll never know. Help them find us.

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