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Boston Meeting Notes~ From Desiree Lyons

The Boston meeting was a wonderful opportunity to help people who wanted to understand porphyria better and to help them with their own cases, as well as for those who wanted to gain a correct diagnosis.

The meeting, hosted by the APF and Dr. Peter Tishler, was held in the Shapiro board room of the Brigham and women’s hospital in Boston.  After everyone introduced themselves, Dr. Tishler, who is a porphyria expert/genetics at Harvard, gave a presentation about the porphyria and then opened the floor to the attendees to discuss their cases and ask pertinent questions that we hear very often.  For example, people everywhere have trouble finding primary care physicians and emergency rooms doctors who are knowledgeable about the porphyrias.  Treatment and diagnosis questions also abounded.  Dr. Tishler gave the attendee excellent suggestions for each of their situations, as well as clarified much misinformation about diagnosis and treatment.  The PBG urine test for the acute porphyrias was discussed a great deal because physicians often order "porphyrins" instead of PBG as first line tests for acute porphyrias.  He also reviewed the second line blood and stool tests to determine the type of porphyria.  

Dr. Herbert Bonkovsky, porphyria expert from the Carolinas Medical Systems in Charlotte, NC, also made a presentation about the many research projects of the Porphyria Research consortium, as well as helped answer the many questions from patients and their families. He also updated the attendees on the need to join the Porphyria National Registry and the Longitudinal Study by going to the National Registry section on the APF website www/ , as well as the EPP Phase III trials.   Desiree attended the meeting, too, and offered the questions she hears from patients aside from those involving diagnosis and treatment.  Namely, patients asked about why heme arginate/Normosang has not come to the USA yet and what prevented FDA approval in the USA.   Dr. Bonkovky explained that the blood bank in Finland where heme arginate is manufactured would not allow an FDA inspection and did not have the stringent FDA requirements in the US manufacturing plants for biologics, like heme arginate and Panhematin.   This blood bank issue prevented the FDA from approving heme arginate entry despite the lengthy attempts of Dr. Bonkovsky, Dr. Anderson and Desiree... 

Another issue discussed is women being prescribed hysterectomies to stop menstrual related attacks.  The doctors suggested having the primary care physician speak with      
An expert before performing this surgery. In addition, Desiree mentioned that many patients wanted to know about the safe and unsafe drug list and how to print and access it and how to get physicians to pay attention to the list and data on the website, like the PCP and ER Guidelines.  She suggested that her foremost suggestions were to develop an excellent relationship with a local physician.  Once that relationship is solid, the doctors are more likely to consult with experts and read the materials developed by doctors.  Understanding that this is not always possible and that some doctors do not know about porphyria and are not interested in caring for these complex cases, she asked the attendees to contact the apf for help locating the APF for help.  The APF has a list of treating physician around the country...  They are not experts but are willing to take a patient and work together. 

Another topic of topic of interest was genetics of porphyria.  Dr. Tishler gave an overview of the genetics of each of the porphyrias and an explanation of why porphyria occurs and what happens with each porphyria.   Dr. Bonkovsky added information about the DNA tests performed at Mount Sinai in NYC.  

The APF will be facilitating more of these patient meetings.  The next one will be in Atlanta, Saturday Dec 8, 2012 from 10 AM till 12.  Location to be announced.  Please RSVP to the APF ASAP...   


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