LaRae Hacker - phaware® interview 544

How TBX4Life Is Fueling a Global Collaboration

LaRae Hacker never set out to become a rare disease advocate—but when her daughter’s TBX4 diagnosis left her feeling helpless, she found power in connection. Discover how TBX4Life became her anchor in uncertainty and why she believes parent-led advocacy is the key to progress in rare disease research.

My name is LaRae Hacker. I am a mother of a four-year-old little girl who has pulmonary hypertension as the result of a genetic mutation in the TBX4 gene. We live in Sacramento, California, and I'm here to share a little bit about our story.

Kate was born on her due date at 40 weeks, and she was healthy and perfect, and we went to the postpartum room and about six hours after we arrived, she turned blue and was rushed to the NICU where she spent about six and a half weeks of uncertainty in the NICU. She wasn't eating well, she was on oxygen permanently. The doctors would constantly come in saying, "We don't know what is wrong with your little girl." Something never felt right during that. So, I went and pursued second opinion at Stanford, which is kind of near us. That's where she was diagnosed with genetic mutation in the 17th chromosome, which is called TBX4 Syndrome.

As a new mom who had just brought a baby girl into the world, it was horrifying. Nobody was able to tell us what was happening. For several weeks, they actually didn't know what was going on and why she had developed the condition that she developed, which they originally thought was PPHN, pulmonary hypertension of the newborn. It was helpless. We spent 15-something hours every day in the NICU just trying to seek out answers and reasons and figure out how to get our little girl home and out of the hospital, which we did at about six and a half weeks. She came home on 24/7 oxygen, a feeding tube, and a pulse oximeter 24/7, as well. That was overwhelming coming home with cords sprinkled like spaghetti all over the house with your newborn restricted to certain parts of the house without the help to get moving to another part of the room.

It's funny, when you're going through something like this, you're just searching for an answer. Why? Why is this happening? Because if we know why, then we can fix it, right? That's what you think. When you get a diagnosis like this, this was four years ago, and we thankfully know a lot more about this genetic mutation now, but at the time, she has this genetic mutation called TBX4. By the way, we don't really know anything about it. We don't have any cure for this, and she'll never grow out of it. So, it was comfort we were seeking, and at the same time, just even more devastation that the doctors that we'd seen before at Stanford who said, "Oh yeah, babies grow out of this. She just must be taking a lot longer than your average kid, but she'll be off her oxygen and her heart will be fine." Then, when you find out the reality, it's an even bigger blow.

From there, her pulmonologist, I had asked her, "What do we do? How do you get attention in rare diseases that nobody knows anything about?" She had told me that it's actually parent advocacy groups that make that difference and are able to make bigger waves than the little institutes or the research labs or whatever else. You have to make a wave and you have to make an impact. Shortly after that, I discovered a small, very tiny little Facebook group with about 20-something people in it called Families of TBX4 Syndrome. I think that next year, Anton Morkin​​, the CEO of TBX4Life, started the organization. I just couldn't get her doctor's words out of my head that parent advocacy groups were the ones who do it. So, I couldn't really let him just deal with this alone. I stepped in and tried to help as much as I could.

She was on 24/7 oxygen and a feeding tube until about two and a half. Within three weeks of each other, she was freed of both of those things, which was amazing. That was incredible. It was hilarious though, because her little two-and-a-half-year-old mind, she did not even notice. Before she was off of oxygen, she would get literally clotheslined around the corner, right? She'd run around the corner like her little two-year-old self, and then the oxygen cord would get caught in the corner and she'd fly back, or she'd get caught around the coffee table and stuck and had to rewind herself. But then, suddenly, she was off of this oxygen and she literally didn't notice.

The only time I noticed that she recognized it, was she liked to play with her little brother's booger sucker, for lack of better words. She would move her oxygen on top of her nose as her little routine and then play with it. She went and grabbed for her oxygen one day and didn't find it and kind of looked confused for a second, and then just went about her day. So that was pretty funny. But she's doing great now. She's four. She's in preschool. We go to church, and she's able to be there without any issue. She's incredible. She doesn't know really much about her condition. She doesn't understand that yet, other than we have breathing treatments throughout the winter to protect her a little bit more from illness. Otherwise, she just thinks she's a typical little girl, which she mostly is.

The 17th chromosome is where the T-box genes live, and TBX4 is one of those genes. It's widely known as something called small patella syndrome. Up until only a few years ago, we knew of it as an orthopedic problem. So funky kneecaps and feet and hip issues. It had only a few years before Kate was born been discovered as also connected to pulmonary hypertension. This mutation or deletion in this 17th chromosome is what causes pulmonary hypertension.

I think that there's been a lot of noise happening about TBX4. I think when Kate was diagnosed, it had just kind of been getting started. Thankfully, we were lucky enough to land in the lap of a pulmonologist who actually actively was researching TBX4 when we got there. But now, I think that through the work of TBX4Life, there has just been so much more noise and awareness about this TBX4 gene and researchers and scientists just seem to be fascinated about why this impacts the lungs and the heart to cause pulmonary hypertension. We've seen a big growth in the connections that we have with TBX4 and the clinicians and scientists who are interested in joining our movement is awesome to see.

TBX4Life is a rare disease advocacy group, is kind of how we explain it. We realized that in order to actually fund clinical trials and research, you need millions, and that takes a long time and a lot of work, and sometimes just luck. Anton Morkin​​, our CEO, he just knew that you had to just connect people. We have institutes like Vanderbilt and Boston Children's Hospital and Stanford, and even many institutes internationally. These scientists work in collaborative groups, and they meet fairly often, and they basically share the research that they're actively studying that's not been published yet. They have this wonderful agreement with one another that, hey, you can't share my research, but let me tell you what we're doing so that you can maybe use this information I learned on your study and then we can get closer to, ultimately, our goal is a cure, right? But better treatments to prolong the lives of those impacted by not only TBX4, but this work can also impact those with lung disease and anyone with pulmonary hypertension, as well.

Some of the other things that TBX4Life is championing is a medical conference that we had earlier this year in San Francisco. We had a little over 60 participants come from around the world and share their research, share their papers that they've published and the findings that they have. They did case study descriptions of different patients that they've had and the tricky patients, the ones that they can't figure out, and they had dialogue with one another. "Hey, have you tried this? Have you done that?" It was just wonderful to get everybody in a room together and humanize everyone, but also just have that collaborative effort between major research institutes who don't usually share research information. They keep it tight because Stanford wants to post that or Vanderbilt does. So, it was lovely to watch that collaborative effort across institutes.

I am the Director of Communications. Basically, I help support the community of families and keep those connections strong. I run social media pages and also work on fundraising. I am obviously hopeful. It's the only thing that you really can do. You have to remain hopeful in order to survive something like this, honestly, because it is so frightening and there is still so much more unknown. Even at the conference that we had in San Francisco, there was still so much uncertainty, or we don't know the answer to this. We don't know why this child presents this way. We don't know why this specific thing happens in the lungs that then impacts the pulmonary hypertension. My hope comes from the amount of people that were involved and are involved in this organization that before it's too late for my daughter, we can find some way to prolong, extend life, or even ultimately cure pulmonary hypertension in general without the need for a lung transplant, which we all know only slightly increases the time that you have. That would be my hope.

My aspiration within TBX4Life would be to keep this train and this momentum going in the medical community, continue expanding it, continue finding more families who have this genetic mutation. There are actually so many that we know are out there that they just had a genetic panel that didn't at the time include TBX4. So, they think that they have unknown causes, but then they're slowly coming out of the woodwork, these teenagers, these adults who find out, "Oh, this whole time it's actually been because of TBX4." So yeah, my hope is just to broaden our reach.

I'm LaRae Hacker and I'm aware that my daughter is rare.

Learn more about pulmonary hypertension trials at www.phaware.global/clinicaltrials. Follow us on social @phaware Engage for a cure: www.phaware.global/donate #phaware
Share your story: [e-mail] @TBX4_Life