PERSONAL STORY

My Family's Experience of Hereditary Angioedema
By Ann

The story of hereditary angioedema (HAE) in our family is a very positive one. Although it started with much ignorance, fear, pain, and mismanagement, we now understand the disorder and have confidence and enough control over the situation to live full and active lives. We hope that in the future, with the advances in gene therapy, the prospects will be brighter still. I have told our story to encourage those who have had to struggle--and perhaps those who continue to struggle--with many years of misdiagnosis and inadequate treatment.

Let me start by introducing my family as we are today. I am a 60-year-old, part-time nurse. My husband John, also 60, is a health and safety specialist. We have three children: Sarah, who is 32 and works as a general practitioner; Peter who is 31 and also a doctor; and George, age 21, who is studying statistics at a university.

My Story
My own symptoms first occurred when I started taking the contraceptive pill at the age of 23. I immediately experienced severe bouts of gross edema about once a week, involving my arms, legs, face and gut. It was very frightening. Only at this stage was I told the family history of this weird condition. My grandfather had severe attacks of HAE over many years, and died from throat swelling at the age of 39. My father suffered severely until he was 30, when his symptoms suddenly ceased, never to return. Several aunts and uncles were also affected. Even so, my mother regarded the condition as "all down to nerves" and "all in the mind." My doctor prescribed massive doses of antihistamines to no effect.

My symptoms continued, but gradually decreased over the next few years. Doctors were emphatic that there was no connection with the pill. But when I discontinued the pill, the edema stopped completely.

When I became pregnant with my first child, Sarah, I had regular edema from four months, but all symptoms ceased after her birth. The same pattern occurred during my second and third pregnancies, although the symptoms were more severe. However, between pregnancies I was free of symptoms. Our third son, James, appeared to be a very healthy baby but our lives were devastated when he tragically died in infancy.

A Search for Answers
It was at this time that my GP spent an afternoon researching HAE at the postgraduate medical library on our behalf. Subsequent blood tests revealed that Sarah and Peter were, like me, deficient in a substance in our blood called C1-inhibitor (C1-INH). However, they were symptom-free at the time. Because of these diagnoses, I was determined to find some answers. As a nurse, I had access to medical literature and our GPs were supremely helpful. We found a specialist consultant in London. Gradually, over the next few years, more information and treatment became available. Two years after James we had George, who also has HAE.

"It was like a miracle."
In 1983, toward the end of my pregnancy with George, I was the first patient in Great Britain to have C1-INH injections. It was like a miracle. What had been a three-day session of very acute abdominal pain, vomiting and diarrhea was relieved within an hour of the injection.

Sarah's Story
The availability of C1-INH has been the central factor in transforming the lives of our family. Without treatment, for instance, Sarah would not have been able to manage a career, and would have experienced a lot of severe pain and distress. Her symptoms had increased in severity since the age of 14. She suffered severe incapacitating abdominal symptoms for three days out of every seven to 10 days. At first she was given high doses of Danazol, but the androgenic properties of this were prohibitive. Her periods became very erratic, her appetite and weight increased, she developed facial hair, and her voice deepened considerably.

She is now controlled by self-injecting two vials of C-1INH intravenously as soon as abdominal or throat symptoms develop. Thanks to this replacement therapy, Sarah has been able to qualify as a doctor. She now lives a normal, happy life and has traveled all over the world.

Peter's and George's Stories
Peter developed problems in adolescence, but his condition appears to be less marked, and he is maintained relatively symptom-free on small daily doses of Danazol. He always keeps C1-INH available in case of severe symptoms or laryngeal emergencies.

George has the deficiency but only occasional symptoms. Again, however, we always have our safety net, in the form of C1-INH, at the ready.

Helping Others
I now work as a volunteer with the PIA (Primary Immunodeficiency Association) to support HAE patients. Over the past five years, I have been in contact with over 200 HAE families. Sadly, I have realized that our family¿s story is not in any way typical of the experiences of the wider HAE Community. HAE is a very rare, life-threatening condition (estimated one in every 50,000 to 100,000 of the population). Most patients have found great difficulty in gaining an initial diagnosis and then accessing expert HAE management.

Many patients have lost family members with laryngeal edema. Many others have suffered severe symptoms for 20 or more years before they achieve the correct diagnosis. They may be diagnosed with allergies, have unnecessary surgical procedures, be labeled as malingerers, or referred to psychiatrists. When a correct diagnosis is obtained, this is often just the beginning of a long struggle to access effective treatment.

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Document Published: 12/21/2006 3:55 PM
Last Updated: 1/16/2007 12:16 PM