fragile X syndrome

I was a professor of public health at the University of Michigan, and I moved to the University of Chicago, and a A couple of months after we arrived, my mother-in-law died suddenly and tragically.

And my wife's brother, Vincent, who lives with this intellectual disability called Fragile X Syndrome, he had to move into our home.

And my wife torpedoed her own career aspirations in that moment pretty significantly.

We started assuming the obligations for taking care of him.

My wife and I, we take care of her brother where our conversation started.

My brother-in-law, Vincent, is 260 pounds.

And people with fragile X syndrome very often can be physically aggressive.

About a third of the caregivers for young men with fragile X report that they are injured by their sons.

And this creates a severe diagnostic dilemma when we encounter specific genetic syndromes.

syndromes like Fragile X or Phelan-McDermid syndrome.

Let's break those down because they illustrate the problem perfectly.

What exactly is Fragile X?

So Fragile X syndrome is a genetic condition caused by a mutation in the FMR1 gene.

Okay.

And that mutation prevents the body from making a protein that's really necessary for normal brain development.

But when these children are evaluated for autism, the behavioral overlap creates massive

Since November 2023, we all know that preconceptual carrier screening has been Medicare-rebatable.

It is only for three recessive conditions, though, Fragile X, SMA, and obviously CF, okay? And about 1 in 20 patients are going to be positive for that.

So Australia has decided we're going to do the two-step approach.

We're going to test the mother.

Syndromic means there are some individuals that do have a clear genetic mutation.

And that might be something like Down syndrome, Fragile X, tuberous sclerosis, or some other known mutation.

Or it might be what we call a de novo mutation, which means it's not coming from the parents.

It kind of spontaneously arises.

Autism therapeutics is bluntly put a graveyard.

Novartis, Roche both halted Fragile X programs after finding no benefit and parts of the autistic community rejected the premise that core traits should be treated at all.

So I wonder what makes you think that you can win where better funded teams and basically huge corporations failed before? And how do you answer the people who don't want the cure at all?

Thanks, Sylvain.

Super cool.

Oskar, I want to switch over to you.

You enter your aspect, your business through rare genetic subtypes, Fragile X, Phelan, McDermid, Tuberous Sclerosis.

I have no medical background, so I hope I sort of pronounced it more or less correctly.

One thing I'm, I'm intrigued about with, 'cause you're talking about it being an expansion, you know, type of mutation.

So we've talked to some other folks about like Fragile X, for example, right? And one of the things is with these expansion and, and kind of repeat types of conditions is that they can expand from one generation to the next.

Like the mutation almost gets longer or has more base pairs involved in it.

Does that happen with this? And then do you see people like in future generations potentially maybe having like a younger diagnosis or a different type of presentation depending on what's going on with the expansion?

There's a lot of different repeat expansions and, and they don't all behave the same way.

And they're in different chromosomes too.

So you mentioned Fragile X, but Fragile X is in an X chromosome.

It's a sex chromosome, so men are more likely and, and oftentimes like exclusively patients with, with Fragile X.

Number three...

Uri is, he has Fragile X and Fragile X is a genetic marker for autism.

And we've learned so much from him because he wakes up with a smile on his face and he goes to sleep with a smile on his face and he is the happiest person in the world.

So even though he has developmental disabilities, I don't really know if he's disabled because he is truly, sincerely, thoroughly happy.

And number four is our only daughter.

And number five, somehow lightning struck again at number five, is also autistic.

He also has fragile X, but it presents itself more as someone with Asperger's.

So his social deficits are really what gets in the way, where Uri is totally happy speaking to people who aren't there.

He says this, this song began days before the birth of our sixth child.

Several years before this, we had found out about Fragile X Syndrome, a permanent condition that was affecting our first son and causing severe developmental delays and other challenges.

We were hoping and praying for a son who would not be affected with this syndrome.

And as the due date approached in June of 99, I found myself becoming more and more overwhelmed by the uncertainty of life and asking myself this simple question, is there anything I can count on in life? And as I began to pour out my heart at the piano, this song spilled out amid tears.

with the assurance that there is only one thing we can really count on, even when we don't understand the faithfulness of God.

Our sixth child was a son, and we gave him the name Isaiah Robert, which means God is generous, shining fame.

Isaiah has fragile X syndrome.

The day we found out, my natural response was, was to resign from ministry and focus all my energies on raising special needs children.