Iowa City woman works to raise awareness of rare bleeding disorder

Savanah Schott, 23, has had frequent nose bleeds since she was 6 or 7 years old. But it wasn't until she was in high school that they became a serious problem.

She was at a gymnastics rehearsal one day when she started bleeding severely, losing enough blood to fill a sink. Her coach had to hold her up, because she thought she was going to faint. At the emergency room, doctors cauterized the inside of her nose with silver nitrate.

The next day, however, she started bleeding again and had to return to the hospital. Schott has hereditary hemorrhagic telangiectasia, also know as HHT, a rare genetic disorder that results in malformed blood vessels prone to bleeding. Since that first major episode, her nose has been cauterized multiple times, and she still has daily nose bleeds, sometimes multiple times a day.

The condition is genetic and runs in families - Schott's brother, mother, uncle and grandfather also have the disorder, which they realized when her uncle was diagnosed in 1994, after years of misdiagnosis. Doctors thought he had a seizure disorder, but really he was having miniature strokes caused by HHT. He has had seven strokes over the course of his life.

One in 5,000 Americans have HHT, but 90 percent of them don't know it. The average time between first symptoms and proper diagnosis is 25 years.

Schott, originally from Cedar Rapids and now living in Iowa City, wants to change those numbers by increasing awareness. For many people, like herself and her brother, the major symptoms are nose bleeds. But the condition can be much more serious, with complications including lung or brain hemorrhages, strokes, brain abscesses and heart failure, any of which can lead to death. Her mother has had bleeding in her colon, and her grandfather has biweekly iron transfusions for bleeding in his gastrointestinal tract.

Misdiagnosis can lead to ineffective and sometimes even harmful treatment. Her mother, for example, trying to discover the source of her bleeding, had scopes done that actually increased the problem.

Most doctors Schott has met haven't heard of the disorder, which means Schott often has to educate them instead of the other way around.

'It's really tough, because I'm actually teaching my doctors about it, and I don't know that much,” she said.

In September, Schott decided to take a more active role in raising awareness. She's advocating for a bill in Congress, the HHT Diagnosis and Treatment Act, which would raise awareness, increase research and improve diagnosis and treatment of HHT. The act would create a federally led and financed initiative for early diagnosis and appropriate treatment of HHT at the Centers for Disease Control and Prevention and the National Institutes of Health.

'What I am most passionate about is the physician education portion,” Schott said. 'HHT is last on the list for doctors to think of because nobody knows about it.”

One place patients can turn is a designated HHT Treatment Center of Excellence, where staff are trained on HHT. But there are fewer than 20 centers in the United States, and the closest is at the Mayo Clinic in Rochester, Minn. Schott is trying to get an appointment there, but the waiting list is topped out at three months.

She wants to get a specialized baseline screening. Scans would be able to show areas where she has malformed blood vessels. Once she knows where the malformations are, she will know to be wary of potentially corresponding symptoms. Malformations in her brain, for example, might correspond with headaches.

When she has children, she also will want them to be screened at birth, she said. Babies can be born with malformations that could cause sudden complications.

Statistically, 622 Iowans have HHT, but most are undiagnosed. Schott's family members are the only other Iowans with HHT she knows.

'It's a very lonely disease to have,” she said.

The Coe College graduate, who now works as a program coordinator for state organizations, policy, advocacy and government relations at ACT, has been actively lobbying local members of Congress. She is on an HHT email list, where three months ago she saw a call to action for supporters to contact their representatives and ask them to support the legislation. Schott decided she wanted to get involved beyond filling out a form letter.

'I thought, what better way to grow professionally and personally than to do this advocacy on my own,” she said.

In the last three months, she has talked with staff members for Sens. Chuck Grassley and Joni Ernst and Reps. Rod Blum and Dave Loebsack.

On Tuesday, just before an in-person meeting with David Leshtz, Loebsack's district representative in Iowa City, she got news: her efforts had paid off - Loebsack had signed on as a co-sponsor on the bill.

Schott was thrilled and said she hopes momentum continues to build. She's on the Cure HHT legislative council and hopes to attend HHT Congressional Day in Washington, D.C., in June. There will be a walk to raise awareness, and advocates will meet with congressional offices.

'It's been a journey, and I'm just starting,” she said. 'But if it's something I'm going to deal with my whole life, it's better to be proactive than reactive.”

Details

l Learn more about hereditary hemorrhagic telangiectasia, also known as HHT, at curehht.org.

l Learn more about the HHT Diagnosis and Treatment Act at www.popvox.com/bills/us/114/hr1849.