This is the first international survey carried out by IPOPI. The survey was conducted between February 2010 and August 2010 to establish a mapping of several criteria among IPOPI’s NMOs including estimated number of patients in each country, known diagnosed PID cases, patient demographics, presence of registries, collaboration with international registries, provision and funding of care, availability of treatments, presence of national medical advisory panels.
Maj-Lis Hellström, founder in 1978 of PIO, the Swedish organisation for patients with primary immunodeficiency, and an officer of the IPOPI board for eight years, has put together a collection of stories from 14 countries. 49 authors mainly patients and parents, but also doctors and nurses have contributed to this book.
In reading the book you may recognise your own problems and situation if you are a patient or parent, but also, hopefully, find support, comfort and hope. As a student or a doctor you should find much to learn; how it feels being a PID patient or parent; their side of the story. You will also find good case studies for your practice.
This book should be on the reading list for medical students and student nurses. For people in general, this collection of experiences will be very useful and important in gaining some idea of primary immunodeficiency and its impact on affected families. It should lead to a better understanding and ability to help.
The book will be distributed through t.he IPOPI member organisations. Others who are interested can require copies from info@ipopi.org. For multiple copies a contribution to postage costs may be asked.
Sections from the book:
Table of Contents
Article: “It’s alright for you to be ill – You are used to it.”
Article: “You should stop worrying, take your son home, and feed him.”
The book has been published in Sweden by Andersson & Strand Advertising Agency and Certus Printing firm Ltd, 1999. The printing of this book was made possible by the support of Baxter and Bayer.
By Sara J. LeBien
Section One WHAT HAPPENS AFTER THE DIAGNOSIS
Section Two WHAT TO EXPECT AS YOUR CHILD GROWS OLDER
Section Three ADULT ONSET
Section Four IMPORTANT ELEMENTS FOR SUCCESSFUL COPING
Section Five SUMMARY OF DO NOT’S WE SHOULD
BE AWARE OF
Section Six SUMMARY OF DO’S TO KEEP IN MIND
Section Seven WHAT IS IPOPI and HOW CAN IT HELP?
Section Eight HELPFUL PUBLICATIONS
This booklet is written by an American mother of an adult son with a primary immune deficiency disorder; common variable immune deficiency and chronic malabsorption. It represents her family’s experiences of living with chronic illness over a period of thirty seven years, and her interaction with other parents of children with primary immune deficiency as well as adult patients. She addresses the emotional side effects of this disorder, and includes experiences of other parents of pediatric primary immune deficiency patients and adult patients who kindly offered suggestions from their personal experiences. In addition, there are quotes from other publications that focus on living with chronic illness.
It is our hope that this booklet will help you be better prepared for what you may encounter, and that it offers practical suggestions for coping with typical daily challenges. In addition, it may help you maintain a more stable management of your loved one’s health, as well as maintain your family’s stability while living with chronic illness. It is encouraging to know that cures are being found for some of these disorders.
We do not have a cure for the disorder, but we have solutions for many of the problems. Some of us have had a difficult journey, and now we want to pass along information and suggestions to make your journey less stressful.
PRIMARY IMMUNE DEFICIENCY or PRIMARY IMMUNODEFICIENCY disorders often go undetected because many doctors are unfamiliar with them and only treat the symptoms rather than diagnose the basic disorders. These disorders manifest themselves in a variety of ways, and the seriousness of primary immune deficiency varies considerably . Many people with primary immune deficiency have recurring infections, but nothing serious enough to require hospitalization, while others do have more serious complications requiring hospitalization. Some have few restrictions in their daily living, while others have many restrictions.
To deal with these recurring illnesses the parents or spouses of an immune deficient person face many challenges – physically, intellectually, and emotionally. It can be physically tiring to take care of a sick child or spouse along with all the other family responsibilities, and it requires questioning and research to understand the disorder. Many articles and publications are available to us through our primary immune deficiency organizations and various web sites. But living with a primary immune deficiency also has emotional effects on both the children and adult persons with this disorder and the other family members.Most of us experience several emotions while coping with PID. If we are prepared for some of the possible negative aspects of chronic illness and how they affect our family we can begin to deal with those problems effectively before they become serious.
The World Health Organization (WHO) recognizes over 150 primary immunodeficiencies including X-Linked Agammaglobulinemia (Bruton’s Disease), Common Variable Immunodeficiency (also called Hypogammaglobulinemia), Selective IgA Deficiency, and Severe Combined Immunodeficiency (boy-in-the-bubble disease).
Some disorders such as Selective IgA Deficiency can be quite common, occurring as often as 1/500 to 1/1000 individuals. Others may be as rare as 1 individual affected per million. Untreated primary immune deficiencies are characterized by frequent, some times life-threatening infections and debilitating illnesses.
Because of advances in medical understanding and treatment of primary immunodeficiency diseases, many patients who in the past would not have survived childhood are now able to live nearly normal lives. Most primary immunodeficient patients require life long therapies including intravenous gammaglobulin infusion, aggressive antibiotic therapies, or bone marrow transplantation.
Five classes of primary immunodeficiency diseases have been identified:
B-cell (B-lymphocyte) disorders (such as X-linked agammaglobulinemia, common variable immunodeficiency, and selective Immunoglobulin A deficiency);
Combined T- and B-lymphocyte disorders (such as severe combined immunodeficiency, i.e. SCID, the Wiskott-Aldrich syndrome and ataxia telangiectasia, the DiGeorge Syndrome and chronic mucocutaneous candidiasis),
Phagocytic disorders (such as chronic granulomatous disease) and Complement disorders (such as C2 deficiency and C3 deficiency).
Diseases with recurrent fever and inflammatory manifestations.
Secondary immunodeficiencies result from environmental factors, some therapies etc. One example is the Acquired Immune Deficiency Syndrome (AIDS), which is caused by the HIV virus. Other immunodeficiency diseases occur or are acquired as the result of having cancer, severe nutritional disorders, burns, infections, exposure to radiation or organ transplantation.
This is a list of primary immunodeficiencies. It is by far not complete as WHO lists over 150 different diagnoses.
| B-Cell Deficiencies |
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| T-Cell And Combined T- And B-Cell Deficiencies |
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| Phagocyte Deficiencies |
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| Complement Deficiencies |
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| Periodic Fevers |
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This new IPOPI report summarizes some of the highlights of the XIVth ESID Meeting’s scientific programme. IPOPI would like to thank Dr Peter Spaeth for his precious help with this document.
