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Showing posts from October, 2014

5 Tips to 'Fall Back' From Daylight Saving Time 2014

5 Tips to 'Fall Back' From Daylight Saving Time 2014 Oct 31, 2014, 11:18 AM ET By  UTO START: ON | OFF What's better than sleeping in on a Sunday? How about dodging the days-long consequences of rolling the clocks back this weekend?Daylight Saving Time ends this weekend, which means that most residents in the country return to Standard Time at 2 a.m. Sunday. To do so, most people set the clocks back one hour Saturday night, before they hit the hay. This does not apply to you if you live in most of Arizona or Hawaii, where it’s always island time. Sure, you'll gain an hour when Daylight Saving Time ends at 2 a.m. Sunday. But spending said hour in bed after sunrise will do you few favors in the long run, sleep experts say.It’s About Time! The Clock That Keeps the Entire U.S. Ticking "It will hit you Sunday evening," said Dr. Yosef Krespi, director of the New York Head and Neck Institute's Center for Sleep Disorders. "But if your body clock…

History of Porphyria

History of Porphyria
A Little Bit of History      1841 The term ‘porphyrin comes from the Greek word, porphyus, meaning reddish-purple. It was first thought that the reddish color of blood was from iron. One early scientist performed an experiment to prove that this was not the case. He washed dried blood with concentrated sulfuric acid to free the iron. He then treated it with alcohol and the resulting iron free residue took on a reddish purple color though it contained no iron compound     1844 - Gerardus Johannes Mulder determined the chemical composition of this purplish, iron free substance, which he named "hematin,"   He also illustrated that hematin took up oxygen.     1867 - J.L.W. Thudichum described the beautiful spectrum and fluorescence of these red porphyrins after he published his first book on the analysis of urine.     1871 - Felix Hoppe-Seyler crystallized hematin and described it’s spectrum.  He then demonstrated that the crystalline form differed from one …

Upcoming Patient Meetings & Giving Made Simple

Upcoming Patient Meetings
We invite you, your friends and families to participate in a patient education meeting. The meeting will be held at the Carrie Hall at the Brigham and Women's Hospital on November 9, from 3 pm to 6 pm.This meeting provides an excellent opportunity for you to speak to the experts and to meet fellow-patients. Please let us know if you would like to participate.The meeting in San Francisco will be held at the Hyatt Regency Five Embarcadero Center on December 7, from 4 pm to 6 pm. Everyone is welcome to participate.Please RSVP:  1.866.APF.3635  or  Email:   porphyrus@porphyriafoundation.com
Giving Made Simple
We are introducing our new Donations System that helps make it easier for making donations to the APF.  You can now give via text donation or online giving.Text Donations using  your Smart Phone:Simply text the amount you wish to donate to 281-730-8161.Example: $5 or 5= $5.00, $10 or 10 =$10.00, etc. Choose any $ amount you wish to donate.You will then be s…

A 6-month Natural History Study of Acute Porphyrias

A 6-month Natural History Study of Acute PorphyriasResearchers are currently accepting participants for a 6-month Natural History Study of Acute Porphyrias
Alnylam Pharmaceuticals, Inc. is conducting a natural history study in collaboration with investigators from the American Porphyria Consortium to learn more about the symptoms and the treatment of patients with Acute Porphyrias. You may qualify to participate in this study if you have the diagnosis of acute intermittent porphyria, variegate porphyria or hereditary coproporhyria and have experienced at least 3 acute attacks in the last 12 months or have used Panhematin® or other medicines to prevent attacks. This study will not require you to change any current medication(s) nor require you to If you take part in this study, it will greatly help clinicians and researchers to understand more about porphyria. You will receive study-related medical care and monitoring.This study will help to learn information about porphyria that could…

Exciting News for EPP Treatment

Exciting News for EPP TreatmentExciting news!!! The EMA has recommended granting a marketing authorization under exceptional circumstances for Scenesse (Afamelanotide) for the treatment of erythropoietic protoporphyria (EPP). Scenesse is the first medicine for patients with this condition. We believe the FDA will approve it soon. Thanks to the Porphyria Research Consortium Experts: Karl Anderson, MD, FACP, Herbert Bonkovsky, MD, Montgomery Bissell, MD, Joseph Bloomer, MD, Robert Desnick, PhD, MD and John Phillips, PhD, and to all the research volunteers. You are all Medical Heroes! Thanks to the APF stuff as well.Read more from the EMA meeting highlights:http://www.ema.europa.eu/ema/index.jsp?curl=pages%2Fnews_and_events%2Fnews%2F2014%2F10%2Fnews_detail_002191.jsp&mid=WC0b01ac058004d5c1
"Remember....Research is the key to your cure!"

Chronic Illness

Sensitivity & specificity of tests for Porphyria

Sensitivity & specificity of tests for PorphyriaSensitivity is a feature of many of the diagnostic tests for porphyrias, especially when they are done at or near the time of symptoms. Tests that are sensitive for diagnosis of active porphyrias are almost always abnormal when symptoms of Porphyria are present. But the tests vary in specificity, meaning that some of the tests (those with lower specificity) are abnormal in other diseases.In choosing a test to screen for a disease that is not only uncommon but also causes symptoms that mimic more common diseases, it is obviously important to choose a test that is both sensitive and specific. Fortunately, some tests for Porphyria have both of these features. With such tests, it should always be possible to determine if symptoms might be due to one of the porphyrias.Table 1. Diseases due to deficiencies of specific enzymes of the heme biosynthetic pathwayThe enzymes and their intermediates (substrates and products) are shown in sequenc…

Message to be kind to one another

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

How Can I Deal With Stress?

How much stress are you under?Stress? I don’t even know what that isI can handle itI’m at my limitI’m drowning in stress HANDLING stress is like pulling a heavy shipping container. A large truck can haul it across the country with ease. But a car cannot. Pulling such a load even a short distance could ruin a car’s engine. The same could be true of your “engine” if you’re overwhelmed with stress. Is the situation hopeless? Not at all! To keep from burning out, you’ll need either to lighten your load or to get a more powerful “engine.” Actually, you can do both. Let’s see how. Lighten Your Load THE CHALLENGE: Overscheduling.“Someone will ask me to help out with something or to socialize when I really have things that I need to do. I just don’t want to let anyone down.”—Karina.* THE REMEDY: Learn to say no.  Modesty, or accepting your limitations, empowers you to say no when the load will be too heavy for you to carry. Of course, saying no isn’t always an option—for example, when your p…

General Information from the Canadian Association for Porphyria

Information from the Canadian Association for Porphyria, 2009A Guide To Porphyria

What are the causes of porphyria?


The porphyrin molecules are synthesized in the body from simple amino acids made up of carbon, nitrogen, hydrogen and oxygen. These amino acids interact under specific enzymatic control systems to form ALA then PBG and then on to the pyrolle rings. Each of the pyrolle rings has two side chains and the when the four pyrolle ring structures condense together to form a porphyrin, the combination of the eight side chains can form several variations called isomers. These isomers undergo further reactions where the side chains lose little segments containing carbon, hydrogen and oxygen and form an extensive variety of different molecules, all called porphyrins, but each has its own physico-chemical and biochemical properties. Most of these porphyrin molecules which are not involved in normal metabolic processes are produced in tiny amounts and are destroyed or eliminated as qu…