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Showing posts from June, 2019

Medical Moment: Hepatitis C

PCT Medical Moment: Hepatitis C “Hepatitis C is common in PCT. In some areas where this viral infection is quite prevalent, especially in Southern Europe and some parts of the U.S., as many as 80% of PCT patients are infected with this virus. This virus contributes to developing PCT in part by decreasing hepcidin levels that tend to increase hepatic iron and in part by other increases in oxidative stress. Other hepatitis viruses are seldom implicated (Porphyrias Consortium).” If you have Hepatitis C and PCT, contact Edrin at the APF today for information regarding a clinical trial offering FREE Harvoni. APF – 1.866.APF.3635

Medical Moment: EPP Testing

EPP Medical Moment: EPP Testing This ultra-rare disease is diagnosed by testing the red blood cells for the presence of abnormally high levels of protoporphyrin. These tests need to be performed in a specialized laboratory for accurate results. The specific test to order to diagnose EPP is called “Erythrocyte Protoporphyrin” levels. There are only a select number of laboratories in the United States that can perform the complex analysis to diagnose EPP. The labs that perform this testing correctly are: University of Texas Medical Branch at Galveston, TexasMayo Medical LaboratoriesIt is recommended that these laboratories are used because they offer metal-free and zinc protoporphyrin, which is essential for diagnosis and monitoring of EPP.

Medical Moment

Medical Moment: Panhematin® Access Are you lacking access to Panhematin? Does your health system refuse to pay for Panhematin?Is your physician aware of the importance of early treatment? We need to know. Panhematin® is the only FDA approved treatment for acute porphyria attacks, and we want to make sure that EVERYONE with an acute porphyria (AIP, VP & HCP) has access. Unfortunately, FDA approval doesn’t ensure access. Patients have fallen victim of the bureaucracy inside the Center for Medicare and Medicaid Services (CMS), whose policies effectively discourage treatment with Panhematin® in the hospital setting that is recommended by physicians.We want to help healthcare providers secure access to Panhematin® at their preferred health facility. We know patients who are being denied this treatment from some hospitals and directed to secure another healthcare provider. If this has happened to you or someone you know or care for, please contact us at the APF office. We could help by as…

RAFAEL DE LA TORRE PCT ~ Argentina

RAFAEL DE LA TORRE TYPE OF PORPHYRIA Porphyria Cutanea Tarda (PCT) Porphyria friends in Argentina have a center for diagnosis and treatment headed by Dr. Alcira Batlle. For more information , please see: http://www.qb.fcen.uba.ar/cipyp/ Our member, Rafael de la Torre from Buenos Aires shares his experience with PCT . To contact him, email: rdelatorreu@hotmail.com In 2001 I went to consult the dermatologist about some blisters that appeared in one of my fingers. After asking me about others symptoms, he asked me to have an analysis performed by Dr. Alcira Batlle at the hospital in Buenos Aires. The result was Porphiria Cutanea Tarda. The treatment was S-Adenosyl-L-Methione, 800 mg/ day, during 20 days, and simultaneously I received 100 mg Chloroquine, twice a week, until the levels of urinary porphyrins reached the controls. And I also had one Phlebotony of 500 ml of blood. The concentration of urinary porphyrins and plasma porphyrins was measured at the beginning of the treatment and t…

Nora Slate EPP

NORA SLATE TYPE OF PORPHYRIA Erythropoietic Protoporphyria (EPP) Nora began having difficulty in the sun during the summer when she was three. After being outside, she would cry inconsolably and in pain, sometimes for hours. The backs of her hands in particular seemed to bother her, and she would tell us they "itched." However, there were no outward manifestations-no rash, no swelling, no marks. We were stumped, as were the doctors we visited. At their recommendation, we tried various solutions, including Sarna lotion, Claritin, and weaning on and off various sunscreens-none of these worked. As a last resort, a dermatologist prescribed Benadryl, which worked only because it knocked her out. Although there was we could see, we knew something real was happening. Throughout that summer and the next two summers, Nora would ask to leave pool parties, play dates, and other fun occasions because the pain was just too much to take. We resorted to staying inside. Finally, one weekend i…

ENEWS

ENEWS
Member Stories đŸ“·Share your story! We want to hear from you… The American Porphyria Foundation wants to invite you to share your story with the porphyria community. With permission, all stories will be featured on the APF Website. We will also feature select stories in our quarterly newsletter. Stories should be about 500 – 2000 words and full of your personality. Make sure to include information about your specific porphyria type, your diagnostic journey and how this disease has impacted your life. We will be sending out a small token of our appreciation to the first 5 submissions. We look forward to receiving your stories. The APF office hears regular feedback that the stories listed on our site have helped them feel less isolated and work toward diagnosis. Thank you for having a hand in helping others through your stories and words. Send your stories to Edrin at edrinw@porphyriafoundation.org Smile, Shop, and Support Did you know that you can support to the APF by simply shopping on …

Briggs EPP

TYPE OF PORPHYRIA Erythropoietic Protoporphyria (EPP) Here is our story on my son, Briggs. I am beyond grateful for the APF. Without the APF we may not be where we are today with a diagnosis. At three years old, Briggs began having problems with sun exposure. His symptoms started in February of that year. His hands would itch, burn and sting. He would scream that bugs or monsters with pointed noses were trying to come out of his skin and that the ants were in his hands and feet. He did his best to try to communicate his pain. We went to our pediatrician as well as an allergist/immunologist. He had many sets of bloodwork and allergy testing. We were left without answers. He had no swelling, rash, or heat on the skin. We went to the beach in July. After one day of sun exposure he had a full-blown episode. Until this point, we didn’t realize that the episodes could be worse than what we had seen up to that point. We had multiple nights where he was up until 4am screaming. After the day of…

Medical Moment

Medical Moment: When discussing your specific type of Porphyria with your healthcare provider, how often do you give them the acronym of your type of porphyria? AIP, VP, HCP, EPP, PCT, CEP etc. It is important that you verbally state the entire name of your disease with your provider, rather than giving them the acronym. This could reduce the amount of errors caused in medical records daily. The relationship with your physician is built on communication! Set the tone, educate them and be assertive. There is nothing more important than making sure that your care is top priority.

Medical Moments

Acute Groups
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Medical Moment: In an individual with an acute porphyria, an acute attack can be brought on by certain drugs, hormones in women, environmental factors including chemicals of various types, nutrition including fasting and low carbohydrate diets, alcoholic beverages, medical and physical stress, and physical fatigue. What factors precipitate an acute porphyria attack for you? Comment below. ------ Cutaneous Groups: Medical Moment: Sun sensitivity is the main symptom in CEP, EPP, XLP and PCT. VP and HCP, which are acute porphyrias, can also have blistering sun sensitivity. The degree of sensitivity to sunlight varies considerably. Patients with sun sensitivity have high levels of porphyrins in the blood plasma which, depending on the type of porphyria, have originated from the liver or the bone marrow. Ultraviolet light interacts with porphyrins in such a way as to damage skin tissue. In general, patients with CEP, EPP, XLP and PCT should protect themselves to prevent s…

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