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Sarah knew something was wrong. The nosebleeds. The fatigue. The headaches. Her care team said she was fine. But her gut said otherwise.
August 14, 2025 • 7 min read
Sarah got frequent and long-lasting nosebleeds as a child, but figured they were normal—in fact, her mother got them, too. What Sarah didn’t know was that this was the signature symptom of a rare genetic disease, Hereditary Hemorrhagic Telangiectasia (HHT). Diagnosing it early isn’t easy, since the symptoms tend to get worse with age. But left untreated, HHT can lead to brain abscesses, blood clots, strokes, pulmonary hypertension, bleeding in vital organs, and heart failure.
The nosebleeds were only the beginning. “I had anemia, bad headaches, and was overly fatigued. I had blood spots on my fingers, lips, ears, and in my mouth. I couldn’t make it through the day,” she says. “I went from being active with running and yoga to needing to lay down on the couch constantly.”
She continues, “I hate to say this, but as a patient, you really have to advocate for yourself within the medical community. Oftentimes, I felt like I was being dismissed when I mentioned my continuous symptoms. If you feel like something isn’t right within your body, it’s important to keep searching for the answers you’re looking for. Don’t give up.”
Eventually, after advocating for herself, her nurse practitioner referred her to a hematologist. She received iron infusions for anemia but was later told she no longer needed specialist care—even though her symptoms persisted. “They told me, ‘You’re being treated with iron; you’re fine.’ But I wasn’t fine. My symptoms persisted, my blood spots increased, and I continuously battled fatigue. I kept searching for answers on my own—answers I could’ve gotten if more questions were asked from my care team, which could have led to an answer from one genetic test. It took me almost 4 years to receive a clinical diagnosis. I often wondered why this diagnostic odyssey was so difficult. Why weren’t more questions being asked?”
The blood spots in Sarah’s mouth led her to make an appointment with a local ear, nose, and throat specialist down the street from her house. “He knew in two minutes exactly what I had. He told me he had seen a patient like me during his residency with HHT. To this day, I thank luck and this provider.” Moving forward, Sarah knew that a genetic test would help confirm the diagnosis, offset future healthcare costs, and open doors to better treatment, but that getting a formal confirmation wouldn’t be easy.
Her concern proved valid. Sarah’s insurance denied full coverage for the genetic test she needed. Later on, she was offered a spot in a clinical trial that included testing, but after going through the initial stages of trial induction, she felt like it wasn’t the right fit, and wanted to know more about her disease and her symptoms. Another year passed before she came across the Rare Genomes Project, which led to genetic testing. The results confirmed a variant in the ACVRL1 gene—a definitive diagnosis of HHT. HHT, also known as Osler-Weber-Rendu syndrome, affects about 1 to 2 in 10,000 people worldwide. Finally, Sarah could count herself among them with certainty.
“My first reaction to the diagnosis was not even related to the disease. I immediately just felt like it should have been an easier process,” she says. “It was a catalyst for me to want to help other rare patients facing similar challenges.” Ultimately, it led her to start the Serenely Guided Foundation, dedicated to improving the lives of patients, families, caregivers, and those affected by all rare diseases. “Our mission is to help patients and caregivers with easy-to-access resources during challenging times of diagnosis, treatment, and clinical trials, as well as raising awareness about rare diseases through community-based events.”
There is no cure for HHT but with a diagnosis, patients can manage their symptoms through regular monitoring of their vital organs. For some, that can be the difference between life and death. Today, Sarah works closely with her care team to stay ahead of potential complications. For example, she has just learned that she has malformed blood vessels on her liver, which requires ongoing monitoring. Without the diagnosis, there is no way she would be aware of that.
When her son Sully was 11, he developed pneumonia and became concerningly sick. He also started getting headaches and frequent nosebleeds. But this time, Sarah knew better than to brush off the symptoms she’d ignored as a child. “I know HHT Is genetic. I didn’t want to take any chances,” she says. “I took him to Boston Children’s Hospital and had him tested through GeneDx. The GeneDx test also showed that he was positive for HHT.”
“It wasn’t all that scary,” Sully says. “My mom had already told me about it. Since I had the same symptoms, I kind of expected it.”
Today, Sarah and Sully attend routine screening appointments for early detection of life-threatening HTT-related complications, which allows for early intervention and better outcomes. Sully frequently video chats with his care team at Boston Children’s Hospital and keeps them informed about how he is doing. Sarah says, “I’m so proud of Sully for knowing how to articulate how he’s feeling whether on a Zoom call, or in-person—with his whole leadership team at Boston Children’s. He is leading by example and by telling his story, allowing other kids his age to become the CEO’s of their own health journey.”
Following his mom’s footsteps, Sully has become a rare disease advocate himself, sharing rare disease information through community events, and through the Serenely Guided Foundation Rare Disease Awareness events. And he doesn’t let HHT slow him down. Today, he plays football, basketball, lacrosse, and practices jiu-jitsu.
His advice to other kids? “Say something. If you don’t feel right, let someone know. Ask questions and don’t be afraid to speak up. And if you get nosebleeds, keep track of when they are happening. Be sure to apply pressure on them, so they calm down easier.”
Sarah adds, “GeneDx testing empowers parents to take control of their families’ health journey. We don’t know what tomorrow holds, but now Sully knows what to look for. Knowledge is power—and peace of mind. A genetic test can simplify so many of the other things that are out of control in the healthcare system.”
Getting tested and learning how to help your symptoms is important now and as you get older. Here are some of the tips that I use every day.
After getting her genetic diagnosis, Sarah founded the Serenely Guided Foundation. The organization serves to improve the lives of patients, families, caregivers, and those affected by rare diseases. It provides easy access to resources in the areas of wellness, nutrition, and awareness.
