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Showing posts from May, 2017

Erythropoietic Protoporphyria (EPP)

Erythropoietic Protoporphyria (EPP)
Snapshot Other common terms:EPP, protoporphyria, erythropoietic porphyria ICD-10 classification:E80.0 Prevalence:Rare; between 1:58,000-200,000. Estimates of between 5000-10,000 globally Causes:Inherited disease; defective enzyme causes inability to properly produce haem (heme). Symptoms:Phototoxicity: swelling, burning, itching and redness of the skin, occurring during or after exposure to sunlight, including light passing through windows. Liver toxicity in 5% of cases. Microcytic anaemia can occur. Treatments/cures:None proven fully effective to date. Phototoxicity can be avoided by complete avoidance of sunlight and certain artificial lights. Differential diagnosis:Solar urticaria, polymorphous light eruption, porphyria cutanea tarda Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disorder of the haem (heme) pathway causing severe phototoxicity (toxic reactions to light) in skin due to the build up of a phototoxic chemical …

Important EPP Survey URGENT ASAP!!!

Important EPP Survey
Dear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icahn School of Medicine at Mount Sinai are conducting a survey study to learn more about the delayed diagnosis of EPP and how to better educate providers. This is a short survey (~5 min) for adults with EPP, or parents of children with EPP. If you would like to learn more and participate, click on the link below. https://www.surveymonkey.com/r/G99RF6V
Sincerely, Sajel Lala, MD
Hetanshi Naik, MS, CGC Manisha Balwani, MD

Comprehensive Porphyria Diagnostic and Treatment Center
Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences

"Remember....Research is the key to your cure!"

NORD! Learn the facts

NORD's Rare Disease Database provides brief introductions for patients and their families to more than 1,200 rare diseases. This is not a comprehensive database since there are nearly 7,000 diseases considered rare in the U.S. We add new topics as we are able to do so, with the help of rare disease medical experts.
If you are seeking information about a rare disease that is not in this database, we would suggest contacting the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health. NIH has the most complete database of rare diseases in the U.S. Representatives of patient organizations whose medical advisors are interested in assisting NORD in creating a report on a disease not currently covered in this database may write to orphan@rarediseases.org. https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/                                  " Remember....Research Is Your Key To A Cure"

ACT NOW! Important EPP Survey

Important EPP SurveyDear EPP Community, As you know, the diagnosis of EPP is often delayed for many years. Researchers at the Icahn School of Medicine at Mount Sinai are conducting a survey study to learn more about the delayed diagnosis of EPP and how to better educate providers. This is a short survey (~5 min) for adults with EPP, or parents of children with EPP. If you would like to learn more and participate, click on the link below. https://www.surveymonkey.com/r/G99RF6V
Sincerely, Sajel Lala, MD Hetanshi Naik, MS, CGC Manisha Balwani, MD

Comprehensive Porphyria Diagnostic and Treatment Center Icahn School of Medicine at Mount Sinai Department of Genetics and Genomic Sciences

"Remember....Research is the key to your cure!" 

Andreea Miller and her Struggle with AIP

Andreea Miller Type of Porphyria:  Acute Intermittent Porphyria (AIP) I started getting symptoms in 2010 after my 19th birthday. Every few months, I would get the “flu,” but it was worse than the flu, because it would knock me out to the point that I couldn’t get out of bed without help. My muscles and bones would not cooperate. This went on for about 2 years. It would always start with a bellyache and what seemed like heartburn. I always felt lethargic, and my bones would hurt. I needed someone to physically force me out of bed. Only hot baths would help, but it would end up being too hot and would worsen my stomach pain. I went to a few urgent care clinics but nothing popped up. Around the middle of 2011, I began going to both of the two ERs in my town. They would do a full work-up, including blood work, CT scans, EKG, etc. Upon finding nothing, I would then head to the other ER. At one point I was told I had an ovarian cyst and removal would cure my symptoms. I agreed with everything t…