A number of other organisations have websites that are great sources of information. Some are related directly to porphyria, others are more general, but may be very supportive in helping you to deal with the complexities that a rare condition brings.
The safe list is updated annually using information collated internationally on drug safety over the previous year. New drugs are sometimes added and at other times, drugs are removed following reports of adverse events. It is important that acute patients keep an up-to-date copy with them.
Please contact UKPMIS to be added to their database to receive your new copy each year. Patients or doctors can call UKPMIS for advice on drug options. Drugs not on the safe list should only be taken after obtaining expert advice from UKPMIS or a porphyria specialist. Please contact UKPMIS on 02920 743877 / 020920 742251.
The mission of the European Porphyria Initiative (EPI) is to present an up-to-date approach to the understanding of porphyria, focusing in particular on the prevention and treatment of acute attacks; and to provide information and support to families affected by porphyria; and to support and encourage medical research.
EPI was formed in order to compare experience between countries, attempt to develop a common approach to the management of these diseases and to facilitate international collaborative clinical research and development. The first phase of the project, has been undertaken by a steering group including several UK specialist consultants. See www.porphyria-europe.com
Cardiff porphyria service have a new website at www.cardiff-porphyria.org. This is one of the key centres for porphyria testing and advice in the UK, and one of only two centres to do genetic testing on confirmed porphyria patients.
The British & Irish Porphyria Network (BIPNET) is a professional forum for specialist clinicians and scientists in the porphyria field.
They work collaboratively to share expertise and promote best practice in the care of patients with all forms of porphyria. www.bipnet.org.uk
The BPA is a member of Genetic Alliance UK, an organisation that works on a variety of issues faced by families and individuals with genetic conditions.
They provide information, support families and bring patient voices together to enact change.
CLIMB covers unusual metabolic problems, including porphyria. They supported the setting up of the BPA. They are the UK’s only dedicated organisation to provide advice, information and support on all metabolic diseases to children, young adults, families, carers and professionals. www.climb.org.uk
The XP Support Group supports children with Xeroderma Pigmentosum and may be of interest to those suffering with EPP. It aims to relieve the needs of persons with XP and other related conditions and their families. The group raises funds for research, gives grants for UV protective equipment and products, assists families to attend Owl Patrol or respite in a protective environment: www.xpsupportgroup.org.uk.
Contact a Family are a charitable organisation who can offer advice and information on all issues affecting families of children with disabilities, special needs, or rare disorders.
They have information on support groups, medical information, health, special education needs, respite and benefits: www.cafamily.org.uk.
Neuropathy Trust offers emotional support to people affected by peripheral neuropathy, which may take the form of weakness, paralysis, pins and needles, numbness, burning sensations, and manual dexterity problems. They are unable to offer medical advice: www.neurocentre.com
Saneline is a national telephone helpline for those with mental health needs, or their families and friends.
Trained volunteers, supported by experienced coordinators, are able to offer support and understanding to callers. www.sane.org.uk
Rare Connect is an international patient-led initiative. Patient organisations partner and coordinate together to create communities and provide moderators from within their network. Posts will be answered promptly and reliably: www.rareconnect.org/en/community/porphyria.
In addition to the links above, the BPA have links with three rare drug companies, as they provide drugs for those with porphyria:
Orphan Europe provides haem arginate (Normosang), this is the main treatment for acute attacks of porphyria: www.orphan-europe.com.
Clinuvel produces Scenesse, which many with EPP find helps increase their resistance to light. Scenesse is currently undergoing appraisal processes to be able to gain access on the NHS: www.clinuvel.com.
Alnylam produces Givosiran (ALN-AS1) which is a treatment currently undergoing clinical trials and which aims to prevent acute attacks in patients with acute porphyria, i.e. AIP, VP and HCP: www.alnylam.com.