Two people with paroxysmal nocturnal hemoglobinuria (PNH) may have very different symptoms. Even if they do have the same symptoms, one might have a mild version of PNH, while the other has severe problems. For Shaquilla Gordon and many others, these variations in symptoms make it harder to get a correct diagnosis of PNH.

Shaquilla lives in Florida with her two teenage daughters and works full-time as a financial analyst. She first noticed symptoms in 2016. “I started with different symptoms that could not be linked to PNH at the time,” she explained. “So it never came up that I could be a PNH patient.”

‘I Started With Extreme Fatigue’

From the beginning, Shaquilla’s symptoms were severe. “I started with extreme fatigue. I was very tired, very weak,” she said. “I was unable to do simple tasks and chores.”

Since fatigue is a very general symptom that can be caused by many health problems or other circumstances, it can be difficult for doctors to diagnose what’s causing it. “I would go to my doctor’s office, and they’d think maybe I just have anemia. At one point they thought maybe leukemia, then they said maybe lupus.”

Brain Fog as a Symptom of PNH

Shaquilla continued to develop more symptoms, but they still didn’t point to PNH. “I wasn't completely exhibiting symptoms of PNH, such as blood in the urine,” she said. “I had a lot of brain fog at that time.”

Unfortunately, brain fog wasn’t yet considered a symptom of PNH.

Later on, after she was diagnosed, Shaquilla and others with PNH helped educate the medical field about this symptom. “Meeting other PNH patients like myself, we came to the conclusion brain fog can be a symptom,” she said. “That’s now a symptom listed for PNH, and I’m very proud of that and of us as a community.”

Common Symptoms of PNH

Some of the more common symptoms of PNH can include:

• Dark or blood-colored urine
• Fatigue
• Headaches
• Shortness of breath during exercise
• Fast heart rate

When it becomes more severe, PNH can cause difficulty swallowing, abdominal cramps, and spasms in the throat.

“Looking at the PNH symptoms now, a lot of those symptoms I didn’t have until the very end,” said Shaquilla.

A Blood Clot and a Diagnosis

After many tests for other conditions and many blood transfusions for her symptoms, Shaquilla’s doctor finally considered PNH. He didn’t think it was a likely diagnosis, but he decided to order a flow cytometry test to check for PNH.

“Going into that weekend [after the test], I was very weak, very tired,” Shaquilla related. “I had a lot of chest pain, so I had to go to the emergency room. They did a CT scan of my chest since I was complaining of shortness of breath and bad chest pain, and that’s when they found a blood clot in my lungs.”

Between 15 percent and 30 percent of people with PNH develop blood clots, which usually form in the veins. Depending on where they occur, blood clots can cause life-threatening complications.

‘The Beginning of My Hope’

Luckily, Shaquilla’s blood clot was successfully treated. Between the blood clot and the test results, she finally received a diagnosis of PNH.

“Of course, the first thing you do is go to Google,” she said. “I’d never heard of PNH, didn’t know what it was. I never ran across anyone who had it. So it was very rare and unfamiliar to me.”

Shaquilla’s search led her to The Myelodysplastic Syndromes Foundation, where she connected with others who also had PNH. “I was able to link up with people like myself who were diagnosed with PNH, and that was the beginning of my hope.”

If you’re living with a rare disease like PNH, connecting with others who have the same diagnosis can make a big difference.

Talk With Others Who Understand

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

What symptoms of PNH have you experienced? Have you met other people with PNH? Share your experience in the comments below, or start a conversation by posting on your Activities page.