Patient Story: Writing to Process a Porphyria Diagnosis

In a recent article at Porphyria News, Claire Richmond shares how writing has helped her process her diagnosis of porphyria and to feel connected to the porphyria community.

Claire Richmond’s Journey

Claire Richmond was diagnosed with acute hepatic porphyria (AHP) at 32 years old, after spending 19 years looking for answers to her symptoms. She says her life during that time was filled with pain, and after her diagnosis she had to rebuild both her physical and mental wellbeing.

After everything she has gone through, Claire has discovered that writing down her memories is one of the most impactful things she can do in order to heal. Although it is not easy to revisit times in her life that were filled with pain, confusion, and frustration, she has found it is necessary in order to process that period of her life. With the understanding Claire has gained about AHP, she is able to get more clarity on what she has gone through. She can look at her experiences objectively as she writes them down, and once they are written down, she can let go.

Now that she is diagnosed, Claire is able to recognize her triggers and track a pattern of episodes. However, before her diagnosis she was blindsided whenever she was hit with an episode, left to simply ride it out when it came. Although that was a painful time in her life, as she writes about it now, Claire is able to see the resilience and strength she has gained from it.

Claire says that writing has completely changed her life. It has helped her heal, get clarity, understand her diagnosis, and feel free of her past. It is something that brings her great comfort and is a consistent part of her day.

Her Message

In the article, Claire urges people to do what they need to in order to take care of themselves during difficult times. She finds her comfort and purpose through writing, and she builds connections through sharing her writing with others. Although writing is not for everyone, she says sharing our stories can bring people together in meaningful and important ways. Bad things are always going to happen, and we all will grieve in our own ways, but coming together and sharing our experiences can be incredibly impactful.

Learn more about Claire’s journey through diagnosis and how writing has helped her process her life over at Porphyria News.

About Porphyria

Porphyria is a group of disorders that are characterized by an accumulation of chemicals that are responsible for the production of porphyrin, which is necessary for the function of hemoglobin. High levels of porphyrin can lead to issues in the skin and nervous system.

There are two forms of this disorder: acute and cutaneous. The former affects the nervous system and the latter affects the skin. 

Symptoms

Symptoms vary depending on the type of porphyria one has. Symptoms of acute porphyria include:

  • Pain in the abdomen, chest, legs, and back
  • Constipation
  • Diarrhea
  • Nausea
  • Vomiting
  • Pain, tingling, paralysis, numbness, and weakness in the muscles
  • Discolored urine
  • Mental changes
  • Breathing issues
  • Urination issues
  • Heart palpitations
  • High blood pressure
  • Seizures

Symptoms of cutaneous porphyria occur when people are exposed to sunlight, and they are:

  • Burning pain caused by exposure to sunlight or possibly artificial light
  • Sudden, painful swelling and redness of the skin
  • Blisters on exposed skin
  • Itching
  • Excessive hair growth
  • Discolored urine
  • Fragile, thin skin when skin color changes

There are also complications that can result from this condition. Acute porphyria can be life-threatening if an attack is not treated properly. Long term complications include chronic pain, chronic kidney failure, and liver damage. Complications of cutaneous porphyria are permanent scarring and skin damage.

Causes

Issues with the production of heme result in porphyria. In order to produce heme, eight enzymes are required. A lack of one of these enzymes results in both types of porphyria.

The majority of cases of this condition are inherited. They can be inherited in both an autosomal dominant and autosomal recessive patterns.

There are also risk factors that can trigger the genetic components of porphyria. Triggers can be exposure to sunlight, certain medications, recreational drugs, diets or fasting, smoking, physical or emotional stress, alcohol use, and menstrual hormones.

Treatment

Treatment for this condition consists of avoiding triggers and managing symptoms. Avoiding triggers entails not using certain medications, avoiding recreational drugs and alcohol, not smoking, not fasting or dieting, taking hormones for menstrual issues, avoiding sun exposure, reducing emotional and physical stress, and treating any other illnesses quickly.

Treatment that is specific to the acute form of this condition consists of injections of hemin, sugar taken through mouth or IV, and hospitalization for severe symptoms.

Treatment for cutaneous porphyria may entail periodically drawing blood, hydroxychloroquine, and vitamin D supplements.

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