PERSONAL STORY

Ingrid's Story

My name is Ingrid G. I'm 53 years old and have been suffering from the rare hereditary disorder HAE (hereditary angioedema) since I was 15. However, I was not diagnosed with the disease until 8 years later, at the age of 23.

I lack an enzyme known as C1-esterase inhibitor. As a result, fluid builds up in my tissues, leading to swelling. I inherited the disorder from my father, who died of this disease at the young age of 27. My uncle also died of HAE a few years later. He was just 32. They had both inherited this dangerous disorder from their mother, my grandmother. This familial history of the disease is typical, including the fact that, looking back, it's possible to ascribe deaths in my family to HAE.

Years of Suffering and Surgeries
I developed swelling in my hands when I was just 15 years old. At first, doctors thought I had been bitten by an insect, and the symptoms were treated with vinegar compresses. A little while later, when my feet swelled, a sprain was suspected. I subsequently suffered swelling of my hands and feet on numerous occasions. Calcium injections and antiallergy tablets were administered in an attempt to relieve the problem, but to no avail.

I probably had my first severe abdominal attack of HAE at the age of 16. After getting sunburned, I was tormented by severe abdominal cramps. And a little while later, I had a circulatory collapse. Immediately after my admission to the local hospital, the doctors suspected that my cecum might have caused the sudden circulatory collapse. I was operated on at once. But after a few weeks, I suffered a recurrence of the symptoms that had occurred prior to my surgery. I had two more emergency operations -- after two-year intervals in each case -- owing to accumulation of fluid in my abdominal cavity, which is a typical sign of HAE. Doctors still didn't consider HAE, however, deciding that the cause was a perforated cyst.

My Life Was Sheer Hell
The next few years in my life can be described as sheer hell. I switched doctors and hospitals countless times, only to be labeled mentally ill In the end. I lived in constant anxiety. As a result of my illness, I suffered various blows to my personal fortunes, such as the collapse of my marriage and the forced end of my training as a nurse.

A Bright Spot in My Life
The birth of my first child in 1971 marked a bright spot. The pregnancy was very largely complication-free, and I gave birth to a healthy daughter, who, fortunately, had not inherited the disease. Soon after the birth, however, the attacks again became unbearable.

An Accurate Diagnosis at Last
My GP referred me to Göttingen University Hospital. Here, I was informed that I had a distinctly enlarged stomach. The doctors suspected that this abnormality might be linked to a disease known as HAE. After a whole series of tests, their suspicion was confirmed, and the hitherto mysterious disease was finally identified.

Treatment Begins
I was initially treated with tranexamic acid, which partly fulfills the function of the missing enzyme, and my situation improved considerably for a while. As the years went by, however, I again suffered abdominal attacks, and during menopause the frequency of the swelling in my hands and feet again increased.

Subsequent investigations showed that my fallopian tube was thicker than in other women. The doctors recommended surgical removal. Once more, I was forced to undergo an operation that may have been unnecessary.

A Turning Point
I had to endure around 30 to 40 hospital stays. Finally, in 1999, the turning point came in a period of time spent in the Göttingen University Hospital. My doctor, who had looked after me for several years, gave me the address of the HAE-Vereinigung e.V. [HAE Association], a self-help organization founded in 1997.

Happy not to be "on my own" with the problem anymore, I immediately got in touch with the association. By meeting other people affected by the disease, I got to know about the enzyme concentrate that replaces missing C1-esterase inhibitor. After initially rejecting this therapy, I later decided to give it a try.

Just a short time after the very first dose of human C1- esterase inhibitor, there was already a distinct improvement in my condition. Since then I have injected the medicine every 3-5 days. The abdominal attacks have now completely disappeared, and the frequent swelling has also decreased.

Hope for Others
I hope that this rare disorder will become better known as a result of the self-help group's work, and that those affected will be diagnosed as early as possible.

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Document Published: 12/21/2006 3:53 PM
Last Updated: 12/21/2006 3:53 PM