In a recent article from Porphyria News, Claire Richmond describes how she lives with acute hepatic porphyria (AHP), a rare disease that requires long-term management.
Hepatic porphyria is a form of porphyria characterized by enzyme deficiencies in the liver. Hepatic means “pertaining to the liver.” Acute hepatic porphyria are characterized by attacks of the organs in the large cavity of the torso and the corresponding parts of the nervous system. They may or may not have skin manifestations (such as lesions). There are different types of acute hepatic porphyria, including:
- Acute intermittent porphyria (AIP)
- Variagate porphyria
- Hereditary coproporphyria (HCP)
- Hereditary deficit of delta-aminolevulinic acid dehydratase
In addition, there are different types of chronic hepatic porphyria, including:
- Porphyria cutanea tarda
- Hepatoerythropoietic porphyria
Chronic hepatic porphyria present inflammation of the skin as a result of exposure to light, such as sunlight. The inflammation may be characterized by blisters on the skin.
Symptoms:
All acute hepatic porphyria are accompanied by attacks impacting the internal organs and the autonomic nervous system. These attacks manifest as:
- Intense abdominal cramping over one to two weeks
- Neurological symptoms such as muscle weakness, sensory loss, or convulsions
- Psychological symptoms such as irritability, anxiety, auditory or visual hallucinations, confusion
Variagate porphyria and hereditary coproporphyria may also result in inflammation of the skin. Unlike the acute hepatic porphyrias, chronic hepatic porphyria do not manifest with attacks of the internal organs or autonomic nervous system. Instead, chronic hepatic porphyrias are characterized by lesions of the skin, particularly in those areas exposed to sunlight (such as the face and hands).
Richmond’s Story
Claire Richmond was tormented with symptoms of an unknown illness for years before being diagnosed with acute hypatic porphyria (AHP). She was in a severe state for a very long time, and was overjoyed to finally have a label for what was happening; Claire hoped to be on her way to recovery.
However, there is not a lot known about chronic AHP in the long-term, and doctors were unable to give her a clear picture of what to expect with her symptoms. They hoped it would be just a group of attacks that would be treated by avoiding triggers and hemin infusions. Unfortunately, Richmond’s story was not so simple.
Instead, Richmond deals with chronic AHP that requires long-term disease management, as she must face frequent symptom episodes. She says the hardest part for her to accept was the permanence of her rare disease.
How She Survives
Being diagnosed with a chronic rare disease can be very difficult for a patient. Richmond says she was in denial for a long time, and pushed herself farther than she should have. Her doctors told her to try to go back to living a normal life, but it just was not realistic for the way AHP affected her.
Instead of trying to return to a life that no longer suited her, Richmond made changes to help accept and live with her diagnosis. First, she learned more about AHP through research studies, other patients, and the American Porphyria Foundation. She become more aware of her body, and observed patterns over time without judgement. She found medical professionals who understand the difficulties of a chronic rare disease diagnosis. Today, she treats herself with compassion and practices mindfulness to help stay in the moment. Richmond takes life day-by-day, appreciating and listening to her body.
“A burning desire to know what’s next is natural. But for those of us with rare disease, we’ve already faced the unknown and survived. Living on the hump doesn’t have to be stressful,” says Claire Richmond.
