A helpful guide for patients and caregivers

By Sara J. LeBien

CONTENTS:

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

PREFACE

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.

INTRODUCTION

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

X-LINKED AGAMMAGLOBULINAEMIA, (BRUTON´S DISEASE), (XLA) COMMON VARIABLE IMMUNODEFICIENCY, (CVID) SELECTIVE IgA DEFICIENCY IgG SUBCLASS DEFICIENCY IMMUNODEFICIENCY WITH THYMOMA, (GOOD SYNDROME) TRANSIENT HYPOAGAMMAGLOBULINAEMIA OF INFANCY, (THI) HYPER  IgM SYNDROME.- AR (AID deficiency)

T-Cell And Combined T- And B-Cell Deficiencies

SEVERE COMBINED IMMUNODEFICIENCY, (SCID, several forms) CATCH 22 SYNDROME, (DIGEORGE´S SYNDROM), (DGS) X-LINKED LYMPHOPROLIFERATIVE SYNDROME, (DUNCAN´S SYNDROME) HYPER IgM SYNDROME –XL (CD40 LIGAND DEFECIENCY) MHC CLASS II DEFICIENCY, (BARE LYMPHOCYTES) ATAXIA-TELEANGIECTASIA, (LOUIS BAR´ S SYNDROME) WISKOTT – ALDRICH´ S SYNDROME IPEX HYPER IgM SYNDROMES, AR- forms CHRONIC MUCOCUTANEOUS CANDIDIASIS

Phagocyte Deficiencies

CHRONIC GRANULOMATOUS DISEASE, (CDG) INTERFERON g  / INTERLEUKIN 12, and receptors,  DEFICIENCIES FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, (FHL) CONGENITAL AGRANULOCYTOUSIS, (KOSTMANN´S SYNDROME) CYCLIC NEUTROPENIA LEUCOCYTE ADHESION DEFICIENCY, (LAD) CHÉDIAK-HIGASHI’S SYNDROME GRISCELLI’S SYNDROME, (GS) HYPER IgE SYNDROME, (HIES)

Complement Deficiencies

PROPERDIN DEFICIENCY MANNAN-BINDING LECTIN DEFICIENCY, (MBL) HEREDITARY ANGIOEDEMA, (HAE) And Deficiencies of all other complements

Periodic Fevers

TRAPS (TUMOR NECROTIC FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME) FAMILIAL MEDITERRANEAN FEVER, (FMF) HYPER – IgD SYNDROME, (HIDS) PFAPA and others