From HAE patient Rosa María Perez:
Epinephrine, Hydrocortisone, Prednisone, Benadryl … with every health crisis there is a bombardment of medicines with which nothing is resolved. The edema was quick – “in crescendo” – until it reached a limit when it stopped, and then slowly began to decrease.
Pediatricians and allergists agreed that it was an allergic process – allergy tests were positive for shellfish, canned foods, and sausages. I continued to have multiple allergy tests, as I was supposedly a very allergic girl. Still, I would swell after an injury, an insect sting, or after wearing an uncomfortable shoe. Initially, these swells would begin on a hand, a foot, the forearm.
Later, “gastric crises” led to abdominal pain and ended in persistent vomiting. Doctors prescribed treatments for the symptoms without knowing the cause.
Despite my father and a paternal aunt suffering similar symptoms throughout their lives, no one associated my condition with a hereditary disease. My father came close to experiencing a tracheotomy, and I remember seeing him with a swollen face, deformed and not looking at all like himself. In my innocence, I never imagined I would look like that someday.
My name is Rosa María Pérez González. I just turned 50 and I live in Cuba. I now know that I am an HAE patient Type 1.
My swelling began during early childhood, but it was at age 11 that I had the first face swell. I remember this vividly because our small hometown doctor treated my swell with endovenous epinephrine to avoid edema of the glottis. After that, I experienced swelling every three to four months in my hands or feet that were treated as “allergic”. Each time I was given steroids and antihistamines.
When my oldest son Luis turned one, he fell in the bathroom and split his lip slightly. Although this type of fall is something common in children his age, his minor accident developed into a serious inflammation of his face. I decided at that moment to actively search for answers to these medical mysteries. Thanks to an immunologist from my hometown, I was referred to the Institute of Hematology and Immunology to see the Director, Dr. Consuelo Macías, with an “a priori” diagnosis of HAE.
After a series of blood tests conducted on different family members, including myself, the HAE diagnosis was confirmed. In 2013, a broad family testing was carried out that detected an additional five HAE patients in my family.
Since our arrival as patients at the Institute of Hematology and Immunology of Cuba (IHI), I have learned how to better manage my condition. During severe swelling attacks, I can be treated at the hospital with C1 inhibitor. At times, I have had intermittent treatments of Danazol and Tranexamic Acid, although these two therapies do not address my condition preventatively.
Today, as a diagnosed patient I am often concerned about my illness. I pray to God every day for good health and that the international scientific community develops accessible therapies not only for treatment, but for prevention.
