A scientist used to compartmentalize as a way of emotional preservation but learned to harness the anxiety that comes with being a rare disease caregiver to help patients with her children's rare disease.

Dr. Cassi Friday received her PhD in Physiology from the University of Kentucky College of Medicine where she studied a genetic risk factor for late-onset Alzheimer’s disease and how it affects cellular immunometabolism. Dr. Friday has been involved with Cure HHT as a volunteer for close to a decade, offering support to the organization on behalf of her husband and two of their three children who have HHT. Dr. Friday is now the Director of Research Programs and Grants for Cure HHT and is very happy to passionately pursue a cure for HHT.

Transcript

My favorite comic is called The Awkward Yeti and it's about the very logical, forward, practical brain and the very frolicky‑feeling and kind of nonsensical heart. You have all the other organs there too as characters and, as a scientist, I've always been drawn to this comic.

It's even more funny because it's a lot like the personalities of my husband and myself. He's definitely the brain and I am the heart in the relationship. I want utter nonsense all the time and we just sort of balance each other out in that way, and it's great. But as a scientist, I am a little bit of the brain, too. I can be meticulous and calculated if I'm designing a study or doing an experiment.

My first scientific passion was working with children and studying the structure and function of their heart. I was always pretty good about compartmentalizing, sort of switching back and forth. forth between these personality traits, heart and brain. But the day that our daughter was born, our first child, was really the day that I started to lose that ability and my heart and brain became this big, tangled up mess.

We knew our daughter was at risk for a vascular disorder called hereditary hemorrhagic telangiectasia, or HHT for short. HHT causes blood vessels to form improperly. You get arteries that connect to veins without that normal capillary circulation and so it leaves these vascular tangles that are susceptible to all kinds of problems, notably bleeding.

But we did a lot of research about HHT. And with this disease, it's really one where knowledge is power, right? If you know you have it, you can get proper screenings and interventions and it can be well managed. My husband's a good example of this because he has HHT and he's really healthy.

We were carefully followed by maternal fetal medicine and all was well leading up to delivery. And when it was go time, it was the first weekend of July and we were at a teaching hospital. So if you all are in the medical field, you know what that means. All the new residents and trainees they ask if our labor and delivery experience could be a training opportunity for those people who are new.

We were delighted to allow this to take place, because HHT is a disease that has this long diagnostic odyssey. I think it's something ridiculous, like, 26 or 27 years on average for a person to be diagnosed with HHT. Part of that is because clinicians aren't aware of what HHT is. If they haven't encountered it before, then they may not know about it, and that can prolong diagnosis.

But, also, this was something that we didn't know when we had kids, is that the symptoms are extremely variable between members of the same family who have the same genetic mutation. Their presentation of HHT can really be a lot different in terms of severity and where their muscle malformations occur.

Anyway, we were happy for it to be a training opportunity for other people, but it was a little bit chaotic, because we had like 15 people in the room. It was kind of crazy. But early in the morning after a lot of intense labor, they put a tiny little girl on my chest. She had this head full of dark hair and she was all sticky. I was very glad that the nurse was taking a towel and rubbing her back and and trying to get some of it off.

As she's rubbing, she keeps going around in a circle, more aggressively each time, and she was saying, “Come on, come on, come on.”

At that point I realized, "Oh, no, she's not breathing. She's not breathing very well and she's still kind of blue." At that moment, my heart just sank and I thought, "Oh, my gosh, maybe she does have HHT and she's having a rare complication that happens at birth.” It was just a lot of fear and anxiety all at once.

Then the room also just shifted from this kind of hustle and bustle and people leaving to everyone's focus on her. They took her from me and they ended up doing several hours of testing. When they came back in, I was very prepared for them to tell me that she had HHT, and they didn't. They told me that she had a congenital heart defect.

So, right away my science brain was like, “Ding! I know the heart. I work with kids and hearts and I know this heart defect.” It's a decent prognosis, like she's going to be fine. But I don't think that this is related to HHT.

Turns out she also has HHT, but she's just one of those super lucky kids that has two different rare diseases. So, even though I could rationalize that she didn't have any HHT‑related complications at that time and she had a relatively good prognosis on a congenital heart disease, my mom part was still in full panic mode.

I had to count her respiratory rate every time before I fed her so that she wouldn't accidentally aspirate milk. Most of the time, it was too high and so she had to be fed through an NG tube. Once that was removed and her respiratory rate went down a little lower, it was still fast enough where she burned a lot of calories. She was really small until she got her heart fixed.

Over that year before she had surgery to fix her heart, I was like obsessively counting her respirations. It wasn't just before she ate, it was all the time. I had heatmaps of her respiratory rate and how much she was eating. Like, science‑wise, cool. That's fun data. But like from a healthy mom perspective, it was not great. I kind of spent the next six years struggling to on and off my emotions, to balance this now restless mom heart with this neurotic brain.

And we had two more kids, another with HHT and one without. Thankfully, neither had any complication. So, all the HHT people in our house are relatively healthy thanks to these preventative screenings, but they still bleed a lot.

One of the most common symptoms of HHT patients is nose bleeding, because you have a lot of small blood vessels in the nose and they're relatively exposed to the environment. They get irritated and they can bleed a lot. If you have HHT, you're getting several nosebleeds a day. They can range from like a drip to a pour.

One time, we were out at a winery with the kids. Don't judge me. There were a lot of other moms and dads there, but their kids, all the kids were out in the field playing soccer and our son got like one of the worst nosebleeds that he's ever had in his life. He wanted me to clean him up.

So, my husband very calmly brought him over to me and he was like, “You know, you might want to walk along me around the bathroom, kind of go around behind everybody.”

And I knew why he was telling me that, because he didn't want me to take this child in front of a bunch of drunk people who would absolutely freak out, probably call the cops thinking I was about to murder somebody, because that's what he looked like. If you would have seen him, you'd understand. His whole face, his neck, his arms were covered in blood. His t‑shirt was just saturated and he's still bleeding.

So, I get him into the bathroom and I sit him on the sink and start giving him a little sink bath. I'm trying to fend off all the drunk moms and also keep myself calm. I need to stay calm so that he can stay calm and quit bleeding, but I was kind of freaking out too. This was definitely his worst bleed. It's like how much blood is too much blood, right?

In these moments, it's always just pure chaos, trying to control the situation and then the people around you. And you always get the well‑meaning moms too who say like, “Oh, my kid got a nosebleed once. You just have to pinch their nose and tip their head back and now stop it.” But do I just say thanks and keep going or do I word‑vomit everything that I know about HHT to her so she understands that this is different? That that's not going to work and that this is a regular part of our life that we have to deal with.

Another thing that's really regular is getting screenings of their brain, their heart and their lungs, just to make sure that they don't have any vessel malformations that are at risk of rupture and bleeding, that could cause a stroke or another really serious complication.

One of the things that's kept me grounded through this time dealing with kids who have a rare disease has been volunteering with Cure HHT, the patient advocacy group that supports families with this disease. It's been a great outlet to use my skills as a scientist to explain some complicated research and medical topics to patients and families and, really, a way for me to feel like I have some control in a world where I really feel like I have none.

After I got my PhD, I was asked to come on board and work full time at Cure HHT as their director of research. Immediately, I was overwhelmed with gratitude for the offer, but I was so incredibly nervous to say yes, because that would mean HHT is everything. It's taking care of my kids and then going and hearing about other kids who have more serious disease and worse outcomes and trying my best not to project my kids’ future as that. I was a little bit nervous about it for a while.

Then soon enough, my gut convinced my heart and my brain to stop arguing about it and accept the offer, because it's my dream job. I finished my PhD and I started working for Cure HHT this year. And in thinking about how I can keep my mental sanity and navigate this, my first thought was to compartmentalize, like I used to do, right? I can just ignore that my kids have this disease while I'm working in this space.

But I actually think that that's a really bad idea. it would not suit me well or make me a very good person to have this specific role. And I really don't want to have to switch on and off depending on the circumstances. I want these key parts of me to have synergy, not an opposing effect.

So, whenever I come across a family who has a young child waiting for a lung transplant because they have so many vascular malformations in their lungs, they can't breathe, I can see that kid as my daughter or my son and myself as that mom. And instead of letting that cripple me, I can use those very real and very anxious feelings to kind of guide my actions so I can be a better mom and a better scientist and a better advocate for patients who have HHT. And I can help in this push getting therapies approved by the FDA for this patient population, because right now we have none. And, eventually, a cure.

Thanks.