My name is Sarah Lee and I have Porphyria.  Most who are near and dear to me know that I have battled with this disease since I was diagnosed in 1997. I have Hereditary Coproporphyria. It is a rare disease that most doctors are not educated about it. From looking at me I look “normal” but the battle going on inside of me everyday is anything but normal.

People who have porphyrias can have are range of problems with their nervous systems, resulting in abdominal pain, vomiting, acute neuropathy, muscle weakness, seizures, depression, and anxiety. Cardiac arrhythmias and tachycardia (high heart rate) may develop. Pain can be severe.

I suffer from acute attacks and sun sensitivity. We are a long way from having an effective treatment let alone a cure. Since it’s a rare disease, there’s not much funding for research and it is up to those suffering from Porphyria to be their own advocates and educate as many people as possible.

The more people who know about it the closer we are to getting funding for research from the government and getting medications developed and approved by the FDA.

The American Porphyria Foundation has given me so much support. I am so thankful to have them in my life. I am every happy to be a part of helping people with other rare diseases find HOPE too.

7 thoughts on “Educating Doctors and Public on Rare Disease Called Porphyria is Mission of Patient Advocate Sarah Lee”

  1. Juli says:

    My husband Chris suffers from HCP as well. He was hospitalized 12 times last year and three times already this year. The disease is exhausting mentally, emotionally, physically, financially and spiritually. Sometimes he is too sick and weak to function. Other times too grouchy and irritable. The doctors at the VA sometimes look at him like he just wants his narcotic fix like a junkie. They have no clue the hours and days he has been vomiting at home.
    When he is sick, I can’t sleep either. He paces, he vomits. he cries from the pain and is miserable. He was Special Forces in the military and is now reduced to this. No one knows how to treat his disease. Each time we enter the ER a new doctor spends hours surfing the web for info on what the disease is and what on earth to do with my husband. He gets some sugar, anti nausea and pain meds and eventually four days of special blood products and a week a month in the hospital.
    This is a rare disease which my husband suffers from all three aspects of. The sun sensitivity, changes in his moods and constant pain. It is a traditionally European disease with a lot more experience on the disease and better, less expensive though unapproved FDA medications for the disease not controlled by the bigger drug companies. (So I have heard).
    I know I am exhausted. I know he is exhausted. Our kids (his step kids, my biological kids) are exhausted. Support groups are very helpful. Because it is a rare disease it helps so much to know there are other people out there who understand the frustration, pain and heartache. It gives me hope to know we aren’t alone.

  2. Sarah Lee says:

    Juli, I am sorry to hear of your struggle. Unfortunately it sounds very familiar. Have you also reached out to the American Porphyria Foundation? They have Facebook support pages. Have you visited them? Let me know if you would like to chat sometime.

  3. Desiree says:

    I suffer from AIP. Diagnosed April of this year and up to 10 hospital stays. It truly devastated my whole life. And to top it off…social security determined I’m not sick enough, “you can work” HUH!? Best of luck

  4. Sarah lee says:

    Sorry to hear that. I too have been denied disability support from social security. I encourage you to join the support groups the American Porphyria Foundation has set up. Great place to vent about bad times and celebrate “good days” with other that know a “good day” just means it was bearable.

  5. Roxy says:

    I see this thread is fairly old, but I am finding it very difficult to find people or groups that have Coproporphyria, I am recently diagnosed and am still feeling lost with all of this.

  6. Sarah says:

    Hey Roxy, I don’t get notifications when someone comments. Sorry it took so long. Are you in touch with the APF? Do you have Facebook? We have support groups on there.

  7. Yahaya Khan says:

    My sister is suffering from prophyria the doctors came to know abt it today he has advised for pan hemitan but our misfortune that it is not available in India and to get it from USA is not easy please show me a way i feel lost helpless hopeless.

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