(unsettling music) - [Glen] I am Glen Ray Hershberger.

We are not filming because of religious convictions.

The Bible says not to make any graven images.

Our first child was born in February, 1980.

When he was six months old, he became sick, and we put him in the hospital for a week, and he was alright until he was 11 months old.

Then he became sick again.

In his lifetime he probably had 300 transfusions or more.

Melvin was three and a half years old when he passed away.

(unsettling music continues) Our first daughter, second child, passed away, she was four weeks old.

Her name was Miriam.

She had light brown hair, I remember how she looked, yeah.

(unsettling music continues) One of the intern doctors came up and put his arm around me and said, "I have a gut feeling that this is genetic now, but we don't know what it is."

(gentle music) (Joy laughing) - Joy was born June 6th of 2013, and she is definitely a joy.

She loves to hug people and she likes to say hi, but she's been isolated.

(gentle music continues) She was two weeks old when they asked us to come in for a well baby checkup.

The doctor, she's like, "Your daughter might have SCID."

And I was just like, "What does that mean?"

And she's like, "Have you ever heard of the bubble boy disease?

Your daughter doesn't have a functioning immune system.

You have to go to San Francisco."

(unsettling music) - So this number I think is gonna... SCID is severe combined immunodeficiency.

It is the result of genetic mutations causing babies to be born without any immune system, without any ability to fight infection.

And if they're not treated properly, then they die usually within the first year of life.

(unsettling music continues) (quiet talking) When I started dealing with SCID over 32 years ago, we didn't know what was causing it.

Now we're almost at the point of being able to start the gene therapy, which is one of those approaches that we've worked on for many, many years.

(unsettling music continues) (unsettling music continues) I think the real hope is that we can finally correct this defect.

Cure means complete correction.

(unsettling music continues) (loud clicking) As of today, the only treatment that we have for this disease is a bone marrow transplant.

(unsettling music continues) (unsettling music continues) - [Christina] Joy was exactly two months old when she received her bone marrow transplant.

She had really bad mouth sores and she had really bad diaper rash, and she would just cry and cry.

- [Dr. Cowan] They're getting the transplant.

You're then waiting this very tense time.

Is the transplant gonna engraft?

Is it gonna be rejected?

There are many complications that can occur.

- [Christina] Exactly four weeks was when her diaper rash started looking better.

That was when I knew that her cells were working.

(unsettling music continues) - [Glen] Dennis, our fourth child, doctor told us he is perfectly healthy.

Here we're taking home our first child.

Hard to grasp after what we went through already.

And then about a year and a half later we had another daughter.

Well, when this baby was about two months old, she had a dry cough.

Six months she started losing a little weight and kind of having diarrhea.

So we took her to the doctor and the doctor came up and took us in the room and told us, "This baby has severe combined immunodeficiency.

Why didn't you bring this baby up here when it was born?

Now I can't do nothing."

From there on, we took a blood test from each baby after it was born.

(cars humming) (birds chirping) - Okay, so did they get her on the first try?

Many genetic diseases are detected right at birth by newborn screening.

For SCID, I already knew many families where the first baby almost always died and only after that tragic experience would people recognize a second baby or third baby right at birth.

It made me see that if we could identify every baby very early, then we could bring babies to transplant before they had those complications and the outcomes ought to be better.

(quiet rumbling) (quiet rumbling continues) (quiet beeping) - It can take upwards of six months to a year after a transplant for the immune system to recover sufficiently that the kids can be off isolation.

So we didn't wanna be keeping these families for that length of time.

- When the doctors in San Francisco started talking about going home, they asked me if we had electricity and running water, and I said, "We do have electricity, but we don't have running water."

They're like, "Well you can't bring Joy back."

It's a totally different world when you come to the reservation.

It's so rural.

There's not grocery stores around the corner.

You have to drive so many miles to get supplies.

- [Jarvison] And here...

Here we go.

- It's right here.

- [Christina] While we were in San Francisco, my husband, he found a home for us in Page, running water in the house, electricity, and there's a hospital a couple minutes away.

So we finally got to come home.

It was something that we had to get used to.

Her immune system is there.

It's functioning, but it's not where it needs to be.

(Jarvison grunting) - We stopped going to family functions.

We stopped going to other kids' birthday parties.

We stopped going to just social events.

- I took her to the park, which is just a few blocks from here, and I was wiping everything down with Lysol wipes on the swing set and on the chair.

Like, wow, if someone saw me they'd probably think, "That lady is so crazy."

(laughs) (toy siren ringing) - Yeah, there you go.

We're always ready for an emergency.

My coworkers are like, "You got brand new vehicles, you must be doing well."

(laughs) I do have brand new vehicles, but it's because I have to have a vehicle that can get to California that won't break down on me and we just gotta be ready all the time 'cause it can happen 24 hours, and we can be back in California.

(gentle music) - In 1986, a friend of mine, he had seen several patients with SCID.

He was gonna be away for a year and so he called me and asked me if in case there were more kids, would I be willing to take care of them.

And I said sure.

I didn't think much about it, and suddenly I get this phone call from the Navajo reservation from Dr. Hu.

(gentle music continues) - My husband and I, actually he wasn't my husband then, but we came out to the reservation and we thought we were gonna be here for two years and now what, 33 years later, we're still here, so there you go.

- She said, "We have a child that we think has SCID."

So I said, "Okay, we'll need about five 'cc's of blood, and just FedEx it to me."

And there's a silence on the phone.

"Dr. Cowan, we don't have FedEx in Tuba City."

Basically the docs would drive to Flagstaff 90 miles away which was the only town at that time that had FedEx.

They have FedEx now in Tuba City.

But, anyway, she invited me to the reservation.

She said she thought I needed some education.

(gentle music continues) - The first time I met Mort, he came out here I think in 1988.

We took him rafting on the San Juan.

We took him hiking, we dangled him off a cliff on a rope, all sorts of good stuff like that.

He was younger then, (laughs) and we kind of exposed him to what the reservation's all about.

And yes, we've had arguments on the phone about whether a family is fit to come back or not.

Whether we can support them.

It's gone both ways.

It's been a learning process.

(gentle music continues) (gentle music continues) - [Dr. Cowan] I started to become interested in the fact that there were so many patients with the disease coming from the Navajo reservation.

(gentle music continues) (gentle music continues) I basically changed my focus on trying to find the gene that causes this.

(gentle music continues) (gentle music continues) - And all of the antibodies in her system are the ones she made herself.

And at that point, we'll start giving baby shots that she never got when she was first born - So the cough has been on and off since... - I didn't know that we were carriers of this gene.

Now when I see family members I haven't seen in a long time, I kind of explain to them like, "You can go in and get tested to see if you're a carrier."

(emotional music) - If a family has autosomal recessive SCID, then both parents are carriers.

The chance for every one of their offspring to be affected is 25%.

We believe that the high frequency of SCID in Navajo and Apache is a result of a founder mutation.

And it often comes about when a population has a very small number of people with a mutation but undergoes a shrinkage.

And in the case of the Navajo and Apache during the later part of the 1800s, they were marched to essentially a concentration camp where they spent several years.

And after being released, there were very many fewer individuals than had been in the Navajo Nation before.

And even if just a very few had this SCID-A mutation, their descendants would be more likely to have the mutation because they come from this limited ancestral pool.

Those effects do happen all around the world when there are populations that are small and isolated.

(emotional music continues) - [Glen] We have five healthy children now and we had four that passed away.

At first we just, "Why me, why us?

Is God punishing us or what?"

The Bible says, "God will give no one more than what he can handle."

But the loads seem more than that, especially for my wife here.

(emotional music continues) Today, I get more concerned now about other people's children.

Early testing, early diagnosis, early treatment.

I'm involved with being on the board of the Community Health Clinic, God bring this through so we can help out like this or what?

(bugs chirping) - The kids we're identifying with newborn screening, those kids are often less than two weeks of age when they're discovered, which is amazing because their outcomes are gonna be better.

We hope that they're gonna have a normal life, and it depends on what kind of transplant they have.

It depends on how engrafted they are, it depends on the other complications that occurred.

A significant number of ours have T cells, so they're doing okay but they may not have, for example, B cells, so they have no immunoglobulin.

They're kind of tied to the medical system for the rest of their life, because they need intravenous immunoglobulin.

(unsettling music) (unsettling music continues) - [Dr. Cowan] So that replaces the B cells up to an extent, but it's not quite the same.

And, so, many of these kids will have chronic bacterial infections.

Their quality of life, it's not ideal.

(unsettling music continues) - Hi, baby.

Hello, how you doing?

(Jarvison laughing) Now I work in Saint Johns, Arizona, but Joy's a special patient.

(unsettling music continues) Her team in Tuba City is actually more responsive and they know what to do.

For now we just kinda have two homes right now, going between the two, and I come back on the weekend.

(unsettling music continues) (crowd chatting) - See that great lab technique, everybody.

(crowd laughing) - Uh-oh.

The review that we got, I printed it out.

(crowd laughing) Let's see, reviewers were enthusiastic about the proposed gene therapy, noting it has the potential to be curative and to overcome several important limitations of the current standard of care.

Basically they gave us what we asked for and had no comments, so I think... - So we're gonna be able to do it.

- We're gonna be able to do it.

- [Dr. Cowan] This is the culmination of a long journey.

Now we're starting the next journey.

(relaxing music) (relaxing music continues) (relaxing music continues) - [Christina] I said I wanna try the gene therapy for her 'cause we want her to experience the world and just have her go to school and get vaccinations and not worry about where we live and what germ is gonna hurt her.

- Our hopes are high that her body starts to fight and develop its own cells and stuff.

That would be great, but any kind of progress, we're on the hopeful side that it'll benefit her.

- [Doctor] We'll follow you more.

- Okay.

- It's just to make sure... - [Dr. Cowan] The attraction of doing gene therapy is that we don't have to take cells from another donor.

We basically take the stem cells from the child's bone marrow and we can correct those stem cells with a copy of the normal gene.

So we have the normal gene, we put it into what's called a viral vector that transmits this gene and inserts it into the stem cells.

We then give the patient a very small amount of chemotherapy.

So much, much less than we have ever given before, but it's enough to open up a few spaces in the bone marrow to allow these corrected stem cells to start growing and making normal T cells and B cells.

The neat thing about that is these are the patient's own cells so we don't have to worry about rejection.

- There it is.

- Good job.

- We did her cell collection last week and then they took it to the lab and corrected her cells, and today she received her corrected cells back.

Sorry, I'm just so excited for her.

Now we're just gonna wait and see if those B cells start to show and they're thinking maybe four to eight weeks they'll see something going on.

(gentle music) (gentle music continues) Scrub, scrub, scrub.

(Christina laughing) - And then what kind of zinc, is she still on the solution?

- Yes.

- Is it zinc... the sulfate?

- Yeah.

And is that three MLs once a day?

- Once a day, yes.

- So we have some good news from the blood tests.

- Really?

- Yeah.

We're seeing T cells, which we kind of knew, right?

- But that's her own.

- But we're seeing B cells.

We're seeing B cells.

Now the T cells, we know that some of these T cells are from her original donor, but about 10 or 12% of them are hers that were corrected now and she's starting to make, but I know that looks like a smudge, but those are B cells.

Those are B cells and it's really pretty cool just at eight weeks, T cells and B cells.

So they're still a small number, okay.

- Yeah, but we'll take it.

- We've seen with other patients that it goes up and it can go up pretty quickly.

Getting that blood and waiting for the lab results, then getting the lab results and being able to tell the parents that, yeah, it seems to be working.

Yeah, it's priceless.

It's a great experience.

I recommend it.

(laughs) (gentle music) - High five, Joy.

(laughing and cheering) (gentle music continues) - [Glen] There's a family in Pennsylvania that had two children that had done gene therapy.

There was another family in Kentucky, and they had a choice of going out there to California, and I thought they were gonna go out there, but they finally changed their mind, it's just too far away.

So they went for a bone marrow transplant and that child's doing all right.

But so far, gene therapy cannot be done on SCID that our children have, on Omenn syndrome.

(gentle music continues) Actually, a year ago we had the chance to go to a wedding in Tennessee to the first survivor of a bone marrow transplant, a girl marrying.

We got the invitation to go and I told my wife, "We are going to see this."

I said, "I want to be a witness to the first successful transplant being married."

This is a milestone.

(gentle music continues) (gentle music continues) (leaves rustling) - The numbers on the reservation slowly crept up in tens and twenties and finally 100.

And it just kept escalating from there.

We got really scared.

We didn't know what to do.

Back in Page, Christina and Joy, they stopped pretty much going out.

I couldn't go inside and visit, so I would go to Page from St. Johns and we have a big front window right there by the front door, and the window would be closed and we would communicate through the phone.

I could see them and the phone would be the audio part.

Joy's medical team made a decision that she should be in San Francisco to start isolating her from what was going on in her community.

I still haven't physically seen them or touched them.

It's June 2020, now and so three months with no physical contact.

So yeah, that was really for me, the toughest part was not being able to see them.

(unsettling music) - Wow.

- Show us your ticket.

- Okay.

- Yeah, there's our ticket.

- Wow, Joy, oh my goodness.

- Daddy, it's you!

- Yeah, thank you, baby, I really liked that one.

- Really?

- I like it a lot.

- I miss you.

- All right, bye, Joy.

- I miss you too, I love you, good job.

- Dad, kiss me, dad, kiss me.

(Jarvison blowing a kiss) (unsettling music continues) (unsettling music continues) (unsettling music continues) (Jarvison laughing) - If you had to pick a positive out of the pandemic, Joy can go out in public, and she won't be looked at because she's wearing a mask.

I'm kind of thankful for that awareness.

(unsettling music continues) With the whole gene therapy, I think that we're just kind of learning this, it takes a while for different people.

We still have a lot of hope that this can work for her.

She looks at the ocean.

She wants to go swimming.

So she'll never have a normal life.

But a better life is what we want for her.

(excited yelling) (unsettling music continues) (unsettling music continues) (unsettling music continues) (unsettling music continues) (no audio) (no audio)