When you’re diagnosed with a rare disease you’ve never even heard of, it can be a steep learning curve before you find the right treatment to get your symptoms under control. Shaquilla Gordon was first diagnosed with paroxysmal nocturnal hemoglobinuria (PNH) in 2017. “I wish I would’ve known that PNH isn’t an easy disease to treat,” she said. “It can be very complex, and PNH isn’t the same for everybody.”

Shaquilla lives in Florida with her two teenage daughters and works full-time as a financial analyst. “It’s been a long journey to diagnosis, and a continuous journey of treatment and learning how to manage my PNH,” she explained.

Knowing What To Expect

“In the beginning, I was given an expectation that my quality of life would improve within the first six months of treatment,” she explained. “So I felt that I was stable. But when six months came, almost a year came, I didn’t feel my full potential. I still felt like I was lagging. I still felt like I was stuck between a rock and a hard place, because I was still needing blood transfusions frequently.”

Blood transfusions may be recommended for some people who still have low blood counts and PNH symptoms despite treating their PNH.

Today, PNH can be treated with several different medications and procedures depending on what symptoms you have and how severe they are. When Shaquilla was first diagnosed, there were fewer options available. “When I first started, I think it was just two [drugs],” she said. “So you didn’t really have options to choose from. So that limited my expectation that I had set up for myself in my mind, going on treatment.”

‘I Looked Too Sick’

Several new medications have been approved for PNH in the past seven years. Before new drugs are approved, they must be proven safe and effective in clinical trials. Doctors may recommend that some people with PNH join clinical trials to potentially gain access to new treatments before they become widely available. To join a clinical trial, you must meet certain criteria.

In Shaquilla’s case, she wanted to join a clinical study for a new drug, but she was repeatedly rejected. “There were clinical trials that would come about,” she explained. “[My doctor] would try to enter me in for these trials, but they were saying on paper I looked too sick. He finally convinced them to allow me to use the drug based on good faith.”

‘I Got My Life Back’

Starting the right treatment made a night-and-day difference in Shaquilla’s life. “I got on that medication, and within a month, that was the best I’d felt in years,” she remembered. “I felt smarter. I felt that I can be the mom for my kids that I wanted to be instead of dragging them along within my sickness.”

Even on her new treatment, Shaquilla still has some issues with her PNH. “I still have different symptoms, but I can say it’s more under control than what it was before,” she said. “I feel like I got my life back during this treatment.”

A Long Journey

There are many questions and a lot to learn when you’re first diagnosed with PNH. But the more you learn about your condition, the better you can take charge and get the treatment you need.

“I would say the journey has been long during my treatment for PNH because I had to figure out what PNH was, how severe my PNH was, how should my PNH be treated, and educate myself about hemolysis and how PNH works on the medications,” Shaquilla summarized.

Even once you find a treatment that works, symptoms can worsen at times. Understanding why your condition changes can help you have better discussions about treatment with your doctor.

“It’s a lot of different components within PNH. So you have to understand when your levels are controlled, and when they’re not under control,” she continued. “Then you have to learn why they’re not under control, and then be open to different medications that may be able to control your symptoms better than your current medication.”

Keep Learning About New Options

Shaquilla continues to educate herself about PNH treatments as new options become available.

“Now I’m learning how to look at each new medication that comes out,” she said. “What does it tackle? How often am I supposed to take it, and what form am I supposed to take it in? Then I’m able to better self-advocate.”

She urges others with PNH to do the same — keep learning and considering all the options. “You have to be open to what may be out there to treat your PNH if you want it to be totally under control,” she said.

Talk With Others Who Understand

On myPNHteam, the social network for people with paroxysmal nocturnal hemoglobinuria and their loved ones, members come together to ask questions, give advice, and share their stories with others who understand life with PNH.

Have you found an effective treatment for your PNH? Have you asked your doctor about new treatment options? Share your experience in the comments below, or start a conversation by posting on your Activities page.