(ARA) – Imagine you’re a parent with a sick child; her symptoms are mysterious and you know something is wrong. You’ve gone to doctor after doctor, seeking the advice of specialists and multiple opinions, and somehow 12 years have gone by and you still have no answers. In the meantime, you and your child have been in and out of hospitals, being diagnosed with everything from leukemia to appendicitis to bad luck. That nightmare was a reality for Sandy Welsh, whose daughter Kylynn has hereditary angioedema (HAE), a rare and potentially fatal swelling disorder.
Welsh is one of 44 million caregivers in the United States who provides care for a loved one. Although many of her day-to-day roles and responsibilities are similar to that of other caregivers, she’s also faced a unique set of challenges. About 6,000 other people in the U.S. have HAE, and until recently, there were limited therapeutic options available. While 30 million people in the U.S. have one of 7,000 rare diseases like HAE, they are not widely or readily recognized in the medical community and are often difficult to diagnose. From the beginning, Welsh instinctively knew that there was a deeper root to her daughter’s problem. She remained resilient and refused to believe doctors when they told her there was nothing wrong with Kylynn.
They learned that HAE is a genetic disease that involves repeated swelling attacks which can occur anywhere in the body, including the arms, legs, hands, feet, stomach, genitals, face or throat. Because of the debilitating nature of the disease, many people with HAE need the emotional and physical support of a caregiver to help them with daily activities, especially during a swelling attack. HAE attacks can be unpredictable, painful, debilitating and disfiguring, often making everyday activities like walking, driving or closing a button difficult, or even impossible. Many patients with HAE also live in fear of a swelling attack in the tongue or throat, which could be fatal if the airway closes.
For many, the caregiving journey starts before their loved one is even diagnosed with HAE. Because the symptoms of this disease are mysterious and mimic other conditions, someone with HAE can go an average of 10 years before getting an accurate diagnosis. Often a parent or spouse is integral in helping people with HAE on this journey, advocating for their care and taking them to doctor after doctor. Once they’re diagnosed, caregivers play an important and sometimes day-to-day role in the management of their loved one’s disease.
Welsh knows this role all too well. After 12 hard-fought years, Welsh remembers the day her daughter finally got a diagnosis. “I was at work when I got the call,” says Welsh. “The doctor told me that she had good news and bad news. The good news was they had finally pinpointed the cause of Kylynn’s swelling; the bad news was that it was HAE, and at the time there were limited therapeutic options for the disease. Kylynn’s diagnosis was such a relief because it meant we finally had an explanation for what had remained a mystery for so long. We finally knew what we were working with.”
After Kylynn’s diagnosis, Welsh was determined to learn as much as possible about HAE and spread information on the disease to others. She wrote letters and emails to the National Institutes for Health, the National Organization of Rare Disorders (NORD), and the U.S. Hereditary Angioedema Association (HAEA) – the national patient organization for people with HAE – asking for more information and resources on the disease. Welsh knew the more educated she was, the more effective caregiver she could be for her daughter. She also sent information on HAE to her local congressman and to teaching hospitals across the U.S. with the hopes that she could save others from the long road to a diagnosis that she and her daughter had experienced.
Welsh began keeping a detailed history of Kylynn’s journey with HAE that included pictures of her after attacks and dates of emergency room visits so she was armed with information at doctor’s appointments. She developed brochures about HAE that she distributed to local hospitals, clinicians, and Kylynn’s schools. She joined the patient safety board of her local hospital to provide the parent’s perspective for the physicians. She even went to her town’s local TV and radio stations for Kylynn to do interviews about HAE to help educate the community about a disease most people had never heard of.
“I was determined to spread the word about HAE to every person who may be involved in Kylynn’s care,” says Welsh. “I provided emergency rooms information about HAE. When people didn’t want to listen or didn’t believe me when I told them about HAE, I didn’t give up.”
Caring for a loved one with a rare disease like HAE can be challenging at times, but there are resources available for caregivers to get education and support from others to help get through the difficult times. To connect with other caregivers and get firsthand tips and advice about how to navigate this important role, visit www.HAEandME.com/caregivers.