Family wants to raise awareness of rare genetic condition

Published 10:24 am Tuesday, May 16, 2017

Contributed by Molly Creedon

Editor’s Note: Tuesday, May 16, 2017 is HAE Day, a day to raise awareness about Hereditary Angioedema (HAE), which is a rare and potentially life-threatening genetic condition. This story was contributed by local resident Molly Creedon to share her family’s experience with this condition.

According to the website, HAE occurs in about 1 in 10,000 to 1 in 50,000 people. HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway.

Subscribe to our free email newsletter

Get the latest news sent to your inbox

In addition, patients often have bouts of excruciating abdominal pain, nausea and vomiting that is caused by swelling in the intestinal wall. Airway swelling is particularly dangerous and can lead to death by asphyxiation.

HAE Gene defect – C1 Inhibitor

HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. The genetic defect results in production of either inadequate or non-functioning C1-Inhibitor protein. Normal C1-Inhibitor helps to regulate the complex biochemical interactions of blood-based systems involved in disease fighting, inflammatory response and coagulation. Because defective C1-Inhibitor does not adequately perform its regulatory function, a biochemical imbalance can occur and produce unwanted peptides that induce the capillaries to release fluids into surrounding tissue, thereby causing edema.

HAE is called hereditary because the genetic defect is passed on in families. A child has a 50 percent chance of inheriting this disease if one of his or her parents has it. The absence of family history does not rule out the HAE diagnosis, however.

Our Story:

First off, there are three Types of Hereditary angioedema, which you can research on the website. My husband and daughter have Type 1, which is the most common and occurs in about 80- 85 percent of cases. Their bodies do not produce enough C1 Inhibitor, therefore they must take medication, a blood plasma product by IV, to supply their bodies with the C1 esterase that they need.

My husband, Ché,  was formally diagnosed in 2010 by a physician at Naval Medical Center, Portsmouth, Va., although he had dealt with the symptoms for about 8 years already. He was placed in ICU because his airway was swelling shut after a flu shot given to him by the medical facility on base. Ché had been complaining of symptoms for years, and had swelling all over his body. Each time we would visit the Emergency Room, they would ask him how he knew that he had HAE. He would, again, supply the doctors with the long list of family members on his father’s side that had the disease, and how their symptoms were the same. Then, of course, they would try to treat him as if he had an allergy, which is the usual response of a physician when they see swelling. They would give him Benadryl, Phenergan for nausea, and pain medication, and send him home. Sometimes they would give him fluids if he was dehydrated from days of vomiting with an abdominal swell.

This went on for years. In 2010, he was given a flu shot, which he tried to tell base medical that he was allergic to, but they insisted that he had to take it. That was a Monday. By Tuesday afternoon his shoulder was swollen and hot. By Thursday evening, his entire arm and chest were swollen, including his feet from being in boots all day. He went to bed around 9 p.m. that night. At approximately 11 p.m., he woke me up telling me he needed to go to the ER, that his throat felt tight. He was admitted and taken to ICU, where he stayed for 2 days. When the allergist on call came to see him, she knew immediately what to do. She had studied HAE and knew they symptoms. She immediately called another local hospital and ordered Berinert, a complement C1 esterase inhibitor,  and infused him with it. Within a few hours his swelling was down some. She them told Ché that he would never deploy with the navy on a ship again. At this time we had both of our children checked by Ché’s new allergist to see if they had the markers for HAE, since each child has a 50 percent chance of getting it. Turns out, our oldest daughter did.

Fast forward to 2015. We are no longer a military family because of this disease, and we live in Tennessee. My almost 13-year-old daughter, Micaylah, has a facial swell for the first time while Ché and I are in Virginia taking care of our other property. When we get home, almost her entire face is swollen. I take her to Sycamore Shoals hospital, where she is misdiagnosed and given the same tired medication that Ché used to get at the naval hospital. I incur an $1,800 bill, only to have to turn around and take Micaylah to another hospital the following day because the swelling was moving to her throat. I took her to Johnson City Medical Center. I explained our situation to a wonderful young doctor there. I had someone from the HAE Association call her, and she decided that it was in my daughters best interest to be given the same medication that her dad takes for attacks. She administered the medication, and my daughter’s swelling went down within a few hours.

At this time, my husband has a port and infuses Berinert 3 times a week. My daughter has a home health nurse who comes to our home and infuses her twice a week with Cinryze, another medication that treats HAE. I feel that awareness needs to be spread about this disease, not only for my family, but for others who have type 2 or even type 3 HAE, and are frequently misdiagnosed.