Dealing with a life-changing illness: Bringing awareness can sometimes be the best medicine
Published 12:10 am Saturday, December 24, 2022
SALISBURY — Finding out there is a problem is the first step in coming up with a solution. For Salisbury resident Kara, making people aware of what she and many other people are going through is important to making sure that they can still all live a normal life.
Kara, whose family asked that the Post not use their last name, has hereditary angioedema or HAE, a very rare disease that causes recurring swelling in several parts of the human body like the face, hands, feet, stomach and throat. According to the U.S. HAE Association, the disease occurs in roughly 1 in 10,000 to 1 in 50,000 people. HAE stems from a genetic defect that causes a deficiency in the plasma protein called C1-Inhibitor.
“First, when I explain the situation to some people they really don’t get it. They more so think allergies, like allergic reaction, and then we have to explain that’s different, and then they’ll start to ask more questions. So I explain to them, ‘It is. I do have the mutation.’ I did a project on it when I did biology at Rowan-Cabarrus Community College where I explained it to the class,” Kara said.
Swelling attacks can happen due to stress, trauma, extreme temperatures and certain physical activities.
“It really is more challenging depending on the days and how my body feels if I’m really stressed, if I’m sick, because those are all triggers as well,” Kara said. Most of Kara’s swelling is facial. Swelling in the throat is especially dangerous because it can impede a person’s breathing. Thankfully, Kara has not had a need for a breathing tube yet.
In October 2019, she was admitted to the hospital with abominable pain thinking it was appendicitis. Her primary care doctor decided to test her for HAE and she was diagnosed in January of 2020. It was around this time that Kara met her current doctor, Dr. Aerik Williams of Allergy Partners.
“What made Kara’s case unique is that this not your traditional HAE in that this is not something she inherited. This is likely secondary to what we call a spontaneous mutation. There’s no family history except that she has a mutation in her DNA and her genes that led to this state where she has random swelling,” Williams said.
For years, the only treatment for HAE was androgen steroids that have adverse side effects. Then, in the early 2000s, the FDA approved medicine that can help replace the protein that is missing or mutated through IV products. More recently, new therapies that allow for replacement are subcutaneous, or injected under the skin, so an IV is no longer necessary. Kara is currently on one of these medicines called Takhzyro.
Typical therapies have been more “challenging” for Kara, because they work at a more moderate level. Because her symptoms can be worse at times, she needs additional doses of other medications for additional support from time to time. What complicates things further is that Kara was diagnosed with multiple sclerosis last year.
“It’s sort of an interesting phenomena that she has been diagnosed with multiple sclerosis and HAE in that those can both be secondary to what we call autoantibodies, whether or not there is true association,” Williams said. “Are the two related? It wouldn’t surprise me, but we just don’t have a good enough understanding of genetics to know whether or not that’s absolutely true.”
Kara is now a junior at Catawba College, studying psychology with a focus on the forensics field and minoring in sociology and counseling. Her main goal, she says, is to “help people.” Having HAE means a swelling attack can happen at any time under certain circumstances. This requires people in her life to be there for her to help her when she has an attack or needs to take her medicine.
“Luckily, we have a good family support with family and friends treatment-wise, because the medication that Dr. Williams is trying to get Kara on, approved through insurance, is Ruconest, does require someone to give her the medication. Being able to give the IV has been helpful where we’ve been able to make it work,” Trina, Kara’s mother, said.
Catawba College changed their policy in order for Kara to have medicine at the nurse’s station. The school also has an emergency plan with the fire department on how to treat Kara if her family cannot get to her. Kara also has Oaklee, her golden doodle medical alert dog, that barks and alerts others when Kara is having a swelling episode.
There are still things that Kara wants to do that her HAE and multiple sclerosis have prevented her from doing. It is hard to stay employed because her swelling episodes can take days to recover from and her multiple sclerosis causes her limbs to become weak and causes double vision.
Kara’s hope and goal is to travel overseas with her honors program to Germany and Poland in December 2023.
“I want to be able to do my internship. I want to be able to actually do what my major is going into it, but it’s hard, especially with the swells because I can be out 10 days to a month or more. I’m hoping the medication can work better,” she said.
Next spring, Kara will be speaking to Dr. Williams’ medical students for the second time about her condition to help them when they come across this with their patients. At this point, Dr. Williams believes Kara “knows more about HAE than a lot of the doctors probably that she goes and sees.”
Communication between Dr. Williams, Kara’s multiple sclerosis specialist Dr. Rosales, and Kara’s primary health care are key to Kara’s treatment plan. Overall, with medication more readily available, quality of life for people with HAE is improving. But Kara still faces obstacles.
Through it all, Kara’s attitude is still optimistic and hopeful. She knows she has a difficult road ahead, but now has the emotional and medical support that she needs in order to thrive as an individual. Bringing awareness and understanding to what HAE is and what people who have it go through makes life easier for Kara.
“It does need to be more known, especially for doctors who have patients that have this rare health condition and they aren’t sure what to do, because then when they (the patients) don’t know what’s going on, they get stressed,” Kara said. “It stresses me out as well, which doesn’t help. I wish people would have more of an understanding about it because there are a lot of triggers to it, like stress is my big one, especially with school and with everyday life. It’s hard, and I just really wish people knew more about it, and had ways to help people who do have it and help the people who are coming to diagnose us.”