Journeys in the Genetic Jungle was a public engagement day for teenagers held at Royal Holloway on March 29th, 2010. The aim of the day was to help teenagers engage with the idea of gene therapy.
PiA member, Rachel Hammond, 16, went along as a special reporter. Please click on the link below to view her video diary of the day.
New booklets aimed at accelerating PID diagnosis and treatment
Concise diagnosis guides to help paediatricians, gastroenterologists, respiratory and ENT specialists spot the warning signs of primary immunodeficiencies (PIDs) have been published by the Is It PID? Campaign to mark Rare Disease Day (28 February).
“These booklets are designed to simplify the diagnosis of PID by identifying the signs in a patient that should prompt consideration of an immunodeficiency, they contain information on the process of diagnosis and a directory of specialist centres for onward referral,” said Dr Philip Wood, Consultant Immunologist, Chairman of UK Primary Immunodeficiency Network (UKPIN) and lead author of the RCP guidelines.
People with PIDs often present to these specialists with severe infections and other indicator conditions, but while the symptoms are managed the underlying immune deficiency remains unidentified and untreated. Individual guides for each specialty have been written in association with the UKPIN and follow the publication of evidence-based diagnosis guidelines by the Royal College of Physicians (RCP) in December.
The Respiratory and ENT booklets have been mailed to key specialists, as will that for Paediatrics when available. The guide for Gastroenterologists will be available electronically on the IBDigest Clinical Community (www.clinicalcommunities.net/ibdigest) and emailed to key specialists.
Copies of the ENT, Respiratory and Gastroenterology booklets are available to download on the Campaign website (www.isitpid.com) and the UKPIN website (www.ukpin.org.uk). The Is it PID? Campaign is supported by an educational grant from Bio Products Laboratory.
Please click here for more information or here for copies of the diagnosis guides.
London and South Eastern Hospitals' Patients' Day
The PiA London and South Eastern Hospitals’ Patients’ Day was held on the 5th September. The day was a huge success; it gave PiA members and their families a chance to attend expert medical presentations and specialised workshops, as well as a great opportunity to meet trustees, PiA staff and other PiA members with primary immunodeficiencies. If you would like a copy of the speaker presentations, you may download a copy... HERE.
If you have any problems with downloading the presentations, please contact the PiA office on 020 7976 7640 or email us at info@pia.org.uk
Jeans for Genes news
Jeans for Genes day 2009 took place on Friday 2nd October. For more information about the day click here.
View a "YouTube" film which identifies the direction and achievements of Jeans for Genes. The film highlights particular issues, such as: Mytobula Myobathy, Muscular Dystophy and Cockayne Syndrome.
click..... http://www.youtube.com/user/JeansforGenesUK to link up to our 4 minute film where Sophie L, who is 9 years old, wonderfully describes her brother Tom’s rare genetic condition Mytobula Myopathy. The film basically informs the viewer about the J4G charity and what we do to help children suffering from genetic disorders.
There are additional films that are featured on our YouTube page which shed light on other rare genetic conditions which are explained by sufferers and family members.
Late Diagnosis Remains a Significant Problem
Late diagnosis remains a serious problem in the diagnosis of Primary Immunodeficiencies (PIDs), a study has found.
A case review sent to all UK immunology departments as part of the Is It PID? Campaign, resulted in detailed information from 60 patients treated by 20 hospitals over the last year. Delay in diagnosis results in chronic infections and high levels of patient depression, the study shows. 79% of patients reported suffering repeat upper and lower respiratory infections and 34% suffered other serious infections before diagnosis. 27% of patients waited over 7 years before diagnosis.
Analysis of the results shows that diagnostic delays for PIDs place a significant effect and strain on the NHS. The majority of patients (85%) had seen more than one specialist before seeing an immunologist. Just over a third had seen two or more specialists. Over half were shown to have experienced more than one hospital admission before diagnosis.
Apart from the economic impact of wrong referrals, nearly 10% of patients had to wait until they presented at an A&E department to be referred to an immunologist.
Late diagnosis remains a significant problem; 66% of patients had infections, 30% had respiratory complications and nearly half of all patients suffered stress, anxiety and depression. However, there was a 40% improvement in stress, anxiety and depression following diagnosis and treatment.
Chris Hughan, Chief Executive of the PIA said: “The case review accurately reflects the experiences of patients and supports our work to raise greater awareness among clinicians and commissioners of these conditions. Delays in diagnosis can blight an individual’s life and, if left untreated, lead to permanent organ damage, even death.”
