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Speaker 1: [00:00:00] You know what would make this better?

[background chatter]

Thea: One word that comes to mind that I could think to describe my family would be vivacious and loud.

[background chatter]

Brendyn: We are like this, [00:00:30] constantly. We love being around each other. We're always joking, always having fun. Growing up and being a Painting was pretty eventful in a lot of good ways.

Monica: Thea is definitely, I used to call her my brain, and she'll tell you that.

Rodney: She's the oldest.

Monica: She's the oldest. Bren was always my helper. She still is.

Rodney: Brendyn is very practical, good at solving everyday problems.

Monica: Then Kobi was a baby that we were [00:01:00] always chasing after.

Rodney: Chaos master.

Monica: Yeah, chaos master. [laughs]

[background chatter]

Kobi: Growing up, we always knew something was wrong with my sisters, and there was never anything wrong with me. They were always in the doctor with so many different symptoms.

Monica: Thea had jaundice. She was born with jaundice, and so right off the bat, I knew something was up. I had other friends who were my same age that were having children at the same time. Their babies, their diaper changes were only like [00:01:30] every five hours, six hours, something like that. My kids were constant.

Rodney: I would say within six months, we started to notice that, okay, our child is—there's some things going on that's different than our friend's children.

Monica: Than our friends.

Thea: I had to have a bathroom within reach of wherever I was. Especially when I was in school, it would be up to seven, eight, nine times a day. I feel like that hindered my schooling a little, [00:02:00] like missing important things in class because I was having to get up and leave the room so many times.

Rodney: Then, Brendyn started experiencing the same symptoms, and they were chronically in the restroom.

Brendyn:: My teacher would literally have to come in the restroom and be like, "Hey, are you okay?" I was wasting away. I looked like a zombie. It was a nightmare. I had this [00:02:30] extreme brain fog. You just felt like you're in a cloud, and everything is just smoky. You can't think.

Monica: They were both there. They were both in the fog. We just didn't know why.

Thea: I struggled really, really bad with my balance. I cannot count how many times, when I was between the ages of probably seven to nine, how many times I fell and like tore my hands up or my knees.

Brendyn: I was 15 years old [00:03:00] when they found the first cataract on my eye. It almost looked like looking through like Vaseline or something. I couldn't see when I danced. I couldn't keep my balance. It just impeded my everyday life, every day. It was rough. Sorry. But I got those removed, and then the same thing happened for her. It was like two sisters just don't randomly get cataracts.

Rodney: Yeah, I know they're sisters. I know they're related. [00:03:30] We all share some of, you know, the same anomalies, but this is pretty crazy.

Monica: We knew that something was abnormal about it, but they just kept telling us there was nothing wrong. There was absolutely nothing wrong. That was just odd.

Rodney: 10 to 15 doctors told us the same thing.

Monica: Yeah.

Thea: My aunt, Ashley, is more like a big sister. The bond that we had with her growing up was very strong. My aunt, [00:04:00] Ashley, is a physician. She's a pediatrician. When we were going through all of this, she was doing her research, especially after I was diagnosed with cataracts. She was like, "Hmm, this sounds like genetic."

Sarah Alvarez: Cataracts are such an unusual diagnosis in pediatrics that it really warrants further investigation for the cause. When my nieces went to the doctor for their chronic diarrhea, they received an explanation that there was just [00:04:30] more water in their colon, and that was contributing to their diarrhea. I never accepted that as an explanation for what was going on. I always felt like there was something more to the story. All of my struggles to get to medicine, all of that drive to understand disease, had been there to help my sister find an answer for her children.

Monica: After the cataract diagnosis, I called Ashley, and I said, "Thea [00:05:00] has developed cataracts now." She went, "Oh, my God, this is genetic." She said, "I know it."

Sarah Alvarez: I think I was a second-year medical student at that point. We sat on the phone, and I pulled up the Online Mendelian Index database, and I plugged in every symptom that they had. And we did a search, and we found several different genetic disorders, and we read through each of them together. And when we read through the CTX entry in the database, my sister [00:05:30] cried, and she said, "Oh, my God, this is it. This is everything they have."

CTX is a disorder of cholesterol metabolism in which cholesterol can get deposited into other organ systems in the body, including the brain and the heart, the tendons. It can cause cataracts. It is a frequent cause of chronic diarrhea in infants. It can result in learning disabilities and cardiovascular disease, and it can limit the life expectancy of patients.

Monica: [00:06:00] I cried and cried and cried because I said, "This is my kid. This is my—" And at the time, I didn't even realize that Brendyn had the exact same thing because I didn't know. I was like, "This is Thea's life. This is what she's experienced." I said, "Is there a treatment?" And she said, "Yes." My sister gave us the diagnosis, [00:06:30] went to the geneticist, and he was like, "Your sister's exactly right." He said, "This is CTX."

[background chatter]

After they started taking CTEXLI, Thea and Bren, we noticed the fog cleared. They were able to do things that they had not done before. The going to the restroom, you know, like that went away.

Kobi: Being on treatment was definitely a big deal [00:07:00] because they went from, you know, truly suffering for such a long time to being able to experience life.

Brendyn: It was just, I felt good. I felt happy. I didn't feel sick, because I had always felt sick and tired. I would wake up, and I was like, "God, another day of this." I didn't have to wake up like that anymore. I don't know, I just felt normal.

Monica: The big thing for me, because I'm an [00:07:30] educator, was that the fog had cleared.

Thea: CTEXLI has really brought that normality back to me. My whole world is open to so many different possibilities now.

Brendyn: After beginning CTEXLI, I was a little nauseated on and off throughout the day. Then I had some acid reflux issues until it eventually faded away after a few weeks.

Thea: After starting CTEXLI [00:08:00], I experienced about a week of nausea, but then after that, it went away and never came back. Since then, I've not had any issues.

Rodney: There's always this frustration every time she and I still look at each other. It's like, “What if somebody would have just tapped into this, you know, 5 years before, 10 years before?”

Monica: What would have happened had they been diagnosed?

Rodney: Way earlier.

Sarah Alvarez: I want this message to reach other families like mine, [00:08:30] to reach a mom who is looking for answers, to reach another young adult who's affected by CTX who's trying to navigate that diagnosis and what life is like. I want people to know that this disease exists and to know that there's a treatment.

Brendyn:: I always felt so alone. I'm so glad that I could share my story. [00:09:00] Because I never thought I would be able to like this, and I'm so glad I could. It's a blessing.

Thea: Even when there are no answers, and you feel like you're shouting into the darkness, you think no one in the world hears you, on the other side of that is a life full of possibilities.

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[00:09:30]

Speaker 2:

INDICATION

CTEXLI is indicated for the treatment of cerebrotendinous xanthomatosis (CTX) in adults. [00:10:00]

IMPORTANT SAFETY INFORMATION

What are the possible side effects of CTEXLI?

• Serious Side Effects—Hepatotoxicity (Liver Injury): You will need to undergo laboratory testing before starting and periodically while on treatment with CTEXLI to assess liver function. Changes in certain liver tests may occur during treatment and may be a sign of liver injury. People with preexisting liver disease or bile duct abnormalities may be at a higher risk for liver injury during treatment. Stop taking CTEXLI immediately and tell your healthcare [00:10:30] provider right away if you get any signs or symptoms of liver problems, including:
  • Stomach (abdomen) pain
  • Bruising
  • Dark-colored urine
  • Feeling tired (fatigue)
  • Bleeding
  • Yellowing of the skin and eyes
  • Nausea
  • Itching
• Most common side effects: Diarrhea, headache, stomach pain, constipation, high blood pressure, muscular weakness, and upper respiratory tract infection.

Tell your healthcare provider about all the medications that you take, as CTEXLI may [00:11:00] interact with other medicines. Do not take bile acid sequestering agents or aluminum-based antacids with CTEXLI. If you take coumarin, your doctor will need to monitor your prothrombin time (PT) while taking CTEXLI and may adjust your coumarin dose.

Your healthcare provider may temporarily or permanently stop treatment if you have certain side effects.

CTEXLI is taken by mouth three (3) times each day and can be taken with or without food. Swallow tablets whole.

These are not all the possible side effects of CTEXLI. For more information, ask your healthcare [00:11:30] provider or pharmacist. Tell your doctor if you have any side effect that bothers you, or that does not go away.

You may report side effects to the FDA at 1-800-FDA-1088 or www.fda.gov/medwatch. You may also report side effects to Mirum Pharmaceuticals at 1-855-MRM-4YOU (1-855-676-4968).

Please see accompanying full Prescribing Information at https://CTEXLI.com.

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