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Showing posts from September, 2015

Do you have Porphyria?

Symptoms:  Do you have a porphyria? The Acute Porphyrias:According to Porphyria experts, approximately 80% of individuals who carry a gene mutation for acute intermittent porphyria, variegate porphyria, and hereditary coproporphyria, and  remain asymptomatic, and others may have only one or a few acute attacks throughout life.  In most of these cases levels of ALA, porphobilinogen, and porphyrins in urine, serum, and feces are normal. Additionally, most patients with ALA-dehydratase deficiency porphyria also remain asymptomatic for most of their lives.  Severe abdominal pain, the most frequent symptom, is diffuse rather than localized and is often accompanied by nausea, vomiting, bloating, constipation, and sometimes diarrhea. Other symptoms include insomnia (often an early symptom), heart palpitations, seizures (sometimes due to salt imbalance in the body as a result of excessive vomiting and/or diarrhea), restlessness, hallucinations, and other acute psychiatric symptoms. The common…

Experiences in Research Studies A Must read!

Dear APF Members, family and friends:
I thought you would want to know that the APF has been collecting Research experience stories that are now on the APF Member stories section on the website labeled Research Experience (Next to their name)
Please take some time to read each members experience. We still need you to participate in research, we are rare so please take a few moments to consider volunteering your time for a wonderful cause. Feel free to click on the link above. Be a Medical Hero today! Member Stories | American Porphyria Foundation Because Porphyria is so rare, many newly diagnosed patients have never even heard of the condition before, let alone met someone else who suffers from it. The same is true for members of the general public, and this lack of understanding in others can make life much more difficult for people living… porphyriafoundation

Have a happy and healthy Autumn to ALL

              Have a happy and healthy Autumn everyone!
                     American Porphyria Foundation 

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

Clinical Trials for Acute Porphyrias we still need you!

We still need Medical Heroes for Acute Porphyrias. Part 2

Check out this one.  Please contact the APF:  1-866-APF-3635 ask for Jessica or Natalia for more Information

A service of the U.S. National Institutes of Health Example: "Heart attack" AND "Los Angeles" Search for studies: Advanced SearchHelpStudies by TopicGlossary Find Studies»About Clinical Studies»Submit Studies»Resources»About This Site» Text Size

Here is some New Information. Part 1 of 2 Press Release for the Acute Type Porphyrias

Here is some New Information.  Part 1 of 2 Press Release for the Acute Type Porphyrias

September 16, 2015

Dear Alnylam Patient Connect Community,

We are excited to share news of clinical progress with ALN-AS1, a subcutaneously administered (i.e., injection), investigational RNAi therapeutic targeting aminolevulinic acid synthase 1 (ALAS1) for the treatment of acute hepatic porphyrias. On September 15th, we presented initial clinical data from our ongoing Phase 1 study of ALN-AS1 during an oral presentation at the International Congress of Porphyrins and Porphyrias (ICPP) in Dusseldorf, Germany.

You can read our press release and view our data presentation here.

We are very excited by the data from our ALN-AS1 program. On behalf of all of us at Alnylam, we are committed to advancing this novel, investigational medicine for people living with hepatic porphyrias.

Alnylam Patient Connect

Note:  If you are a patient, we encourage you to speak to your physician to obtain information abou…

SCENESSE® Released for European Distribution

SCENESSE® Released for European Distribution
Clinuvel Pharmaceuticals Limited (ASX: CUV; ADR:CLVLY; XETRA:DAX) announces today that the European Medicines Agency’s (EMA’s) Pharmacovigilance and Risk Committee (PRAC) has agreed to a Post Authorisation Safety Study (PASS) protocol, allowing SCENESSE® (afamelanotide 16mg) to be released for the commercial supply to adult patients diagnosed with erythropoietic protoporphyria (EPP). While SCENESSE® was granted European marketing authorisation by the European Commission on 22 December 2014, it has taken a further nine months to gain agreement on the proposed PASS protocol. Read the attachment from Clinuvel for the details: SCENESSE® released for European Distribution​ "Remember....Research is the key to your cure!"

New Fundraiser: The Barrel Race in Vernon, TX

The Barrel Race in Vernon, TX
Today we would like to tell you about the upcoming undertaking from the Cook family. As you may know, the Cook brothers, Cason and Caul, have EPP and have set a great example about enhancing awareness of the disease in their local area. They have been hosting a Hat Day for many years in their home town of Vernon, TX. This year, in addition to a Hat Day, Cason & Caul are hosting The Shadow Race (benefit barrel race) in Vernon, TX in November.  They are getting some t-shirts together to sell as well. We appreciate all your support in raising awareness! 

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

Purple Poem of Porphyria

Purple Where I'm from, everything is in purple
It is so beautiful but everyone wants out Because where I'm from all is purple, all is one
In here, we can see the whole color spectrum Be it orange, be it green, perhaps red, or maybe black
In the end though only purple is on our mind They don't have that purple here here, it's nowhere to be found
Embrace that you are special a rare precious gem We are Porphyria strong!

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

Porphyria: A Lyon's Share of Trouble an Update

If you read the first edition, you will want to read what has happened over the past ten years. 

In this remarkable updated book, Desiree offers an information rich discussion of the porphyrias, a group of rare metabolic diseases. She also discusses her own case, as well as those of many other patients whom she has helped over the past thirty five years as co-founder and Executive Director of the American Porphyria Foundation. 

Desiree embraces the challenges of porphyria with courage and humor and writes about them in an open and honest dialogue. After twenty-five years as a medical writer, she has delineated the new and exciting developments in the treatments of all the porphyrias, offering explanations about this complicated group of diseases in a readable manner. 

Every patient and family member will derive tremendous insight and guidance from Desiree’s experience, as well as vital information to aid in navigating the complexities involved in confronting and surmounting the porphyria…

We need you! Longitudinal Study of the Porphyrias

Longitudinal Study of the Porphyrias We are looking for patients volunteers for the 7201 Longitudinal Study of the Porphyrias. The purpose of this long-term follow-up study is to provide a better understanding of the natural history of porphyrias, as affected by available therapies, and to aid in developing new forms of treatment. You will be working closely with porphyria experts and researchers. Volunteering for research is the most important action you can take to change your future health because Research is the Key to Your Cure.  You can be a Medical Hero and join many patients, who gave some of their time to help find important answers leading to new and improved treatments and a cure. To find out more information and participate in a study, please contact us at the APF 866-apf-3635 to be put in touch with the study center closest to you.

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

PCT- Facts from NIH

Phlebotomy, known also as bloodletting or venesection, is a major therapeutic procedure that has been performed by physicians in various civilisations since antiquity up to the present,. In the past it was practised using cupping, lancets or by the application of leeches. This procedure often weakened the patient and resulted in his or her death. A famous example is that of President George Washington who died in 1799 following the removal of approximately 1.7 litres of blood during a bloodletting procedure for acute epiglottitis. Originally, several thousand years ago, phlebotomy was used for the treatment of various disorders, but in addition to its therapeutic benefits, phlebotomy also had a preventive role. In present day medicine, phlebotomy can be performed in physicians’ offices, at a blood bank or in hospital under the supervision of a doctor after obtaining a medical prescription stating the indication and number of phlebotomy sessions required. Currently, therapeutic phl…