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Showing posts from June, 2017

Data Presented at ICPP Show Encouraging Results for Givosiran in AHP Patients

Data Presented at ICPP Show Encouraging Results for Givosiran in AHP Patients Mathew Shanley Published Online: Monday, Jun 26, 2017 200Reddit0
At the 2017 International Congress on Porphyrins and Porphyrias (ICPP) this week in Bordeaux, France, Alnylam Pharmaceuticals is presenting new data on Givosiran (ALN-AS1) for the treatment of acute hepatic porphyrias (AHP).

In a randomized, double-blind, placebo-controlled study, Givosiran demonstrates a decreased annualized attack rate and hemin usage. Initial results from an ongoing open-label extension (OLE) study show consistent reductions in porphyria attacks with continued Givosiran treatment.

Hepatic porphyrias are a subgroup of of porphyrias in which the enzyme deficiency occurs in the liver. Acute hepatic porphyrias encompass four diseases: acute intermittent porphyria (AIP) (most common), variagate porphyria, hereditary coproporphyria, and hereditary deficit of delta-aminolevulinic acid dehydratase (most rare).

Currently, urgent treatmen…

Here is one to print and share with your Doctors Overview from: Herbert L. Bonkovsky, M.D., Carolinas Health Care System

Porphyria What are porphyrias? Porphyrias are rare disorders that affect mainly the skin or nervous system and may cause abdominal pain. These disorders are usually inherited, meaning they are caused by abnormalities in genes passed from parents to children. When a person has a porphyria, cells fail to change body chemicals called porphyrins and porphyrin precursors into heme, the substance that gives blood its red color. The body makes heme mainly in the bone marrow and liver. Bone marrow is the soft, spongelike tissue inside the bones; it makes stem cells that develop into one of the three types of blood cells—red blood cells, white blood cells, and platelets. The process of making heme is called the heme biosynthetic pathway. One of eight enzymes controls each step of the process. The body has a problem making heme if any one of the enzymes is at a low level, also called a deficiency. Porphyrins and porphyrin precursors of heme then build up in the body and cause illness. What is …

Glass Beaker Publishing Disa McCarthy EPP Book Project Scope ***Attention EPP PATIENTS***

Glass Beaker Publishing      Disa McCarthy
EPP Book Project Scope December 8, 2016 Overview1.EPP Book Project Background and Description The author and interviewer has EPP and is creating a book she wished she could find while researching her own symptoms. The book content will include basic information about EPP (Erythropoetic ProtoPorphyria), but the bulk of it will be anecdotal stories of the lives of several (6-10) people who have been diagnosed with EPP. It will also include charts of raw, anonymous data from 12-50 people such as the age of diagnosis, severity of symptoms, etc.  2.Implementation The author will conduct interviews with anyone willing to tell their story. The approximate steps will be: 1)Person with EPP expresses interest in being interviewed 2)Person with EPP is given a survey with basic medical information questions and is asked for available dates to speak via phone/skype. 3)Upon completion of the survey and interview, the data from the survey is retained in a dat…

Meghann Bauer Journey with EPP

Meghann Bauer

Type of Porphyria:  Erythropoietic Protoporphyria (EPP) Meghann Bauer has had symptoms of  protoporphyria (EPP) since she was a little baby, yet her parents took her to different doctors for years before she was diagnosed at age 16 with EPP. Meghann says "I just never found the right way to describe my symptoms so that the doctors would think to test me for EPP," and she was tested for lupus and many other conditions before her diagnosis. It wasn't until her mother brought Meghann to her pediatrician's office saying that she had watched Meghann fall asleep on a family car trip, and that every time the sun hit Meghann's skin she flinched away from it or woke up in pain, that doctors began to suspect porphyria. Watching the Discovery Channel recently, Meghann found the story told in an episode of Mystery Diagnosis strikingly familiar. The show featured the Leppert family and their struggle to come up with an EPP diagnosis for their son Craig, and Meghann&#…

APF Meeting & Cook Family Award

The American Porphyria Foundation will be hosting a Patient Education meeting for Erythropoietic Protoporphyria on Friday, July 21, 2017 in Craryville, NY at Camp Sundown. See the invite below.
Call the APF TODAY to RSVP on 1.866.APF.3635! We are looking forward to seeing you there.

The American Porphyria Foundation presents the President's Award each year to those who have assisted the APF greatly in achieving our mission to fund research, provide education, and create awareness. The awardee goes above and beyond to support their communities including patients, caregivers, families and physicians. The President's Award 2017 has been given to the Cook Family for their outstanding service to the American Porphyria Foundation. Congratulations and thank you for all that you do. See the photo below of Caul and Cason Cook. The Cook Family: Lee Ann, Chris, Caul and Cason.

Pub MD: Erythropoietic Protoporphyria, Autosomal Recessive

Erythropoietic Protoporphyria, Autosomal Recessive. AuthorsBalwani M1, Bloomer J2, Desnick R1; Porphyrias Consortium of the NIH-Sponsored Rare Diseases Clinical Research Network. Editors In: Pagon RAAdam MPArdinger HHWallace SEAmemiya ABean LJHBird TDLedbetter NMefford HCSmith RJHStephens K, editors.  Source GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2012 Sep 27 [updated 2014 Oct 16]. Excerpt CLINICAL CHARACTERISTICS:Erythropoietic protoporphyria (EPP) is characterized by cutaneous photosensitivity (usually beginning in infancy or childhood) that results in tingling, burning, pain, and itching within minutes of sun/light exposure and may be accompanied by swelling and redness. Blistering lesions are uncommon. Symptoms (which may seem out of proportion to the visible skin lesions) may persist for hours or days after the initial phototoxic reaction. Photosensitivity usually remains for life. Multiple episodes…

Dear JOHN Letter Doris Stevens VP

Doris Stevens Type of Porphyria:  Variegate Porphyria (VP) Doris's Letter to Porphyria DEAR JOHN: For therapy, a caring doctor had recommended I write about my illness, that I state what it has done to me and how it has affected my life and finally, what I hope will happen no matter how unrealistic. Since it took a better part of my lifetime to unravel the mysterious maladies that plagued me most of my life, it was difficult to write about it in a less compassionate form. It is important to understand when you read this that it is possible to have been born with more than one congenital anomaly. In my case, I was born with a mild Arnold Chiari Malformation which accounts for an inability to nurse, dizziness and clumsiness in infancy and adolescence. Porphyria symptoms were not present until my early to mid-teens. I am sorry to inform you that I have never loved you. I have truly never understood you and even worse, no one else has understood you either! Starting from my earliest memorie…