- This scan's 15 weeks.

This is when we found out that she's a girl, which was so exciting.

And she went from a little peanut to a little person.

So fast forward to 20 weeks at the anatomy scan, I remember everything was good.

Heart rate, organs, good, good, good movement.

Good, good, good, and then there was one spot where the ultrasound tech was a little quiet.

They found some brightness in the bowel and they said, "It's probably nothing, but let's do genetic testing just in case."

I received a call from our genetic counselor with the high risk department telling me there was a very high chance that our baby would be born with cystic fibrosis.

Honestly, I blanked out.

I just heard something's very wrong.

We had no clue that we were carriers for CF.

We didn't know what CF was and they tell you don't Google, but I Googled.

Unfortunately, what I was reading was very outdated information.

I'm sure I was catastrophizing as well.

I was in grief and shock and denial and trying to prepare myself for the worst case scenario that she would struggle to breathe every breath of her life and that she'd spend more time in the hospital than she would spend in regular world and that we gave this to her.

- In my early career, giving someone the diagnosis of CF was a sure death and it was very traumatic for the family and honestly traumatic for the physicians because you had to tell people this terrible news.

Cystic fibrosis is a genetic disorder.

You have to have one abnormal copy of the gene from your mother and one from your father.

The disease starts when the baby is still in utero.

Some babies get diagnosed with CF by prenatal ultrasound because they have meconium ileus, the blockage of the gut.

And the function of the pancreas is already abnormal at the time of birth.

We also know that most male babies are born without the tubes that allow the sperm to come out, meaning that they are going to be infertile as adults.

With CF, you have thick, sticky mucus in your lungs, in your pancreas, in your liver, in your gut, blocking normal function.

It's a very difficult life filled with daily piles of medications and time-consuming airway clearance therapies.

- Trikafta.

- Now with the advent of drugs like Trikafta, it has profoundly changed what we are able to see happening for people with CF.

- I'm breathing like I'm breathing without pain.

- My energy level has been through the roof.

- I can breathe in so much deeper.

- There's so much damage that happens in utero before these babies are even born.

There's so much damage.

This can't be what's happening to my daughter.

There has to be an answer, there has to be a solution.

There was a mom here in the same town that I live in that I was able to connect with in person.

She was pregnant with her second child who would be born with cystic fibrosis.

And she told me about Trikafta in utero.

She had started taking Trikafta on behalf of her baby, unborn baby at the time, at 27 weeks.

She took this drug, this drug minimized the progression of the disease.

Boom, done.

I want what she's having.

- Like most drugs, Trikafta was not specifically studied in pregnancy.

However, we have seen in case reports and in animal data that you can administer Trikafta to that mom even though she doesn't have CF, it goes through the placenta to the fetus and that can prevent some of the complications of CF.

- We definitely had a sense of urgency.

I mean, this mom I had connected with, she had started taking Trikafta at 27 weeks.

That's three weeks from now.

We have a very short window of time to turn this around.

I had research articles printed, highlighted, so I went back to my OBGYN and I said, "Hey, I would like to pursue treatment in utero."

They were fairly reluctant.

You don't qualify for this drug because you don't have CF.

It's not FDA approved for you because you do not have CF.

So I really had to advocate that I'm carrying a baby that will be born with CF and we have the potential to treat her now, but you're not recognizing her.

I would, I want a referral to the adult pulmonologist and let them decide if this is appropriate or not.

- For women like Stephanie who don't actually have cystic fibrosis, they're making a decision to take a drug that could have side effects just to help their baby.

It's a very brave decision to make.

But this comes with some ethical issues because you're giving a medicine to the mom she doesn't actually need.

And so the discussions around using Trikafta in this way have to be done very, very carefully.

- [Andrea] Jen Taylor is a star and a pioneer in CF reproductive health.

- So I think it's important first to say, since we're going to be treating moms who don't have CF, do we have data in people who don't have CF who have taken modulators?

And the answer is yes.

One of the most exciting projects that I am working on right now is a study called the Protect study.

We're working with a large group of people to actually study whether or not this is safe and efficacious in moms who are carriers.

If it is men, hopefully that will help to make this common practice so that any baby who qualifies can be treated before they're born.

- To pay for it out of pocket, it was going to be $26,000 for one month.

I started rallying on social media, connecting to other moms throughout the world who had already done what I wanted to do.

And I was frantically typing, "How did you get insurance approval?

What did you advocate for?

How did you ask for this?"

And so many moms told me, "You need to fight for an appeal."

I felt so frustrated.

There is this drug, it exists.

It's literally sitting in hospitals right now.

I need it.

Why can't I just get it?

I am reaching out through Facebook and I had never been more drug seeking in my life.

I mean, I've never been drug seeking in my life.

And then all of a sudden I felt like I was being like, "Hey, anyone have some extra T?

You know, do you have any extra Trikafta to spare?"

To have your life and your baby's life in the hands of these medical providers who are making these decisions, it just felt exhausting.

And I felt like every maybe was just turning into a no, a no, a no, and I was losing stamina.

I was unraveling.

And then the next day I received an email saying it was approved.

And that for me was just instant, instant sobs.

Yeah.

Day one, let's see.

It's $26,000 for four packs of these.

So we'll have to do the math and figure out how much this little pill costs.

About a month after I started taking Trikafta, that ultrasound, they saw a tremendous improvement.

I was asking, "How does the bowel look?

How does the bowel look?

Is it bright?

How bright is the bowel?"

And the doctor said, "Wow, there's been a huge difference."

It's not completely resolved, but it is significantly less bright than it was before.

When Hazel was born, all babies are supposed to pass what's called their meconium.

It's their first poop.

It's kind of a tar-like sticky substance.

For CF babies, that's what that bowel blockage is, and they either maybe need enemas or they need that surgery.

So when Hazel pooped for the first time, I cried, just like tears of joy and happiness.

And my poor nurse did not know our story.

She had no idea about CF and she was like, "Oh, honey, like that's going to happen a lot.

Like it's okay."

And I was like, "No, you don't get it.

Like she passed her meconium."

And so that was just a really, really beautiful moment.

- Hi.

- Hi.

- [Joel] This is Hazel's first cystic fibrosis appointment.

- When her first CF clinic appointment when she was maybe five days old or so, they do the full gamut of tests.

Trying to get a poopy on.

Trikafta did everything we hoped it would.

Her newborn screening came back negative.

She was born pancreatic sufficient.

That means her pancreas is healthy.

Most CFers are born insufficient and that means that they need enzymes for the rest of their lives.

It means this disease did not have a chance to progress and do the damage that it normally does.

So when you look at all that, wow, she is healthy.

- [Joel] You look beautiful right now.

Look at you guys.

- So Trikafta is approved ages two and up.

I had been taking it on Hazel's behalf, but now she is born.

How do we continue to get Trikafta into this little baby?

We know that Trikafta goes through, passes through the breast milk, but we don't know how much.

So it was a relief when we did get her prescription approved.

That was much easier.

How are you?

Hi.

How's it going?

Did you have a nice nap?

Hazel was confirmed with cystic fibrosis, but she's symptom free.

She has cystic fibrosis genetically, but you wouldn't know it.

You would have no idea.

She is on a medication that's keeping her CF at bay.

- Are you ready for your sprinkles?

Right now she takes her medicine, we call them sprinkles, twice a day and that's it.

Three, four, five, seven, eight, nine, 10.

Should we mix some applesauce?

I think now that it's been almost a year, I'm finally building some confidence that I can breathe a little bit more easily.

I can trust that she is right where she needs to be and that she's doing well.

Sprinkles.

It's been such a joy being her mom.

Sprinkles.

Yeah.

Yummy.

Talking to other moms and they're talking about hospitalizations and GI tubes and weight gain struggles and enzymes and percussion therapy and vests and we have none of that.

You're changing history, girly.

You don't even know it.

You don't even know it.

- Oh.

- Oh.

- It really is amazing to be able to so profoundly change a parent's life.

People used to be told, "Take your baby home and love them because they're going to die."

And now we may have people who never even knew what it was like to have the classic CF.

For people who qualify, if we start these therapies in utero, we are preventing damage from even occurring in the first place.

And for boy babies, they may be preserving the fertility for that male later in his life, which is again, phenomenal to think about.

It is incredibly gratifying.

It makes you want to get up every day and continue to lead the science that changes people's lives.

- It is incredible science that has gotten us to where we are now.

And I want anyone who's in the research field to know like, thank you, you are changing lives, you are making a difference.

Hazel is proof of that.

- [Crowd] Happy birthday, dear Hazel.

- Yum yum.

- Yum yum.

- There we go.

- Good job, honey.