Coping with a delayed diagnosis of PNH

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare disorder that causes the destruction of blood cells, including red blood cells, white blood cells, and platelets. The severity of the condition can range from mild to life-threatening, with complications that can include blood clots, bone marrow failure, and chronic kidney disease.

PNH can be a challenging condition to live with. Even cases that are considered mild can cause fatigue, headaches, chest pain, rapid heartbeat, and reduced capacity for exercise. Management typically requires the continuous use of medications, which require frequent dosing and high out-of-pocket costs. Even with medications, breakthrough episodes can occur.

Another challenge for many people is a delay in diagnosis. Symptoms vary from person to person. Symptoms also overlap with other conditions, some that are more common than PNH.

Many people with PNH visit multiple healthcare providers before receiving an accurate diagnosis. This is frustrating for multiple reasons—ongoing symptoms, additional healthcare costs, and in some cases, significant or serious complications.

If you or a loved one has experienced a delay in diagnosis of PNH, it may help to keep the strategies below in mind.

Focus on treatment

When you’ve experienced a delay in diagnosis, it’s normal to feel some amount of doubt or mistrust about your current diagnosis or the healthcare providers you are working with. This is common among people with rare diseases like PNH.

While it’s important to acknowledge these feelings, it’s also important that you do not let these feelings interfere with treatment.

If you haven’t already, find a hematologist with experience in treating PNH or rare bone marrow disorders. Ideally, the treatment of PNH should be a coordinated effort between a hematologist and a primary care provider. A care team can include other specialists depending on your treatment needs.

How is PNH treated?

Complement inhibitors are the main treatment for PNH. These are medications that prevent the breakdown of blood cells. These are taken as oral medications or self-administered infusions, depending on the specific drug. Always discuss how a medication works and potential side effects with a healthcare provider.

Blood transfusions and blood thinners may also be needed at times. Some people with PNH require iron and/or folic acid supplementation. Supplements should always be taken under the guidance of a healthcare provider.

PNH can potentially be cured with an allogenic stem cell transplant (bone marrow transplant), but this procedure carries a high risk of serious side effects and requires a matching stem cell donor. It is only recommended in cases of severe, life-threatening PNH.

Keep learning about PNH

Patient education is an important part of treatment for rare disorders. It can also be a challenge. Compared to more common conditions, there tends to be less information available about rare diseases. Information that is available can contain complex medical terminology.

Here are a few strategies for learning about a diagnosis:

• Ask your healthcare provider if they have information that you can take with you or if they can recommend websites or organizations where you can learn more.
• Set aside a small amount of time each week to read about PNH. Keep a reading list of websites, articles, guidelines, or other online resources.
• Keep a list of what you want to discuss with your healthcare team. Write down questions and anything you want them to explain to you. No question or topic is too basic.
• Look for support groups or online communities where you can connect with other people who are living with PNH.

If you have had a long or eventful diagnostic journey with PNH, spend some time thinking about the experiences you had along the way. Think about interactions you had with healthcare providers, times you felt frustrated or disappointed, things you wish you had done differently. Think about how these experiences can guide your management and treatment going forward.