Editor’s Note: In this question-and-answer feature, alpha-1 antitrypsin deficiency (AATD) columnist Alyssa Gloor reflects on her journey from diagnosis to treatment and her life today.
Q: How difficult was it for you to finally get your alpha-1 antitrypsin deficiency diagnosis?
A: It was not hard getting tested, but the complications were harder to trace because I have other health problems. My symptoms are mainly more severe asthma symptoms, reduced ability to exercise, and very little energy. It took a while to trace these to reduced lung function with no known cause other than being alpha-1 antitrypsin deficiency (AATD).
Q: Did you have any knowledge of your disease, or even heard of it, before your diagnosis?
A: I had never heard of it at all before my brother got diagnosed. I got tested because of it being genetic. I didn’t know much about it except for what it was essentially and that I could make it worse if I was exposed to certain things.
Q: Did your primary physician or first line of medical evaluation know about your disease, treatment options, and other relevant, actionable information related to your disease?
A: My general doctor knew nothing about this condition but my brother’s pulmonologist knew a lot about it. He had a lot of experience and a firm grasp of the nature of alpha-1. It is rare to have a doctor so knowledgeable, unfortunately for alpha-1 patients.
Q: Once diagnosed, how easy or difficult was it to learn about the disease, your prognosis, and the treatment options available to you?
A: I did have a basic understanding of it but the likelihood of having complications was not really explained to me. I had read that most AATD patients don’t have issues if they didn’t smoke. My experience was not like this.
Q: What regular sources of information did you come to rely on?
A: I get regular emails from the Alpha-1 Foundation and stay in touch with my doctor who is also learning more and passes that knowledge on to me. I also have learned a lot about alpha-1 from RareDiseaseAdvisor.com. And I check The Weather Channel app on my phone every day to anticipate weather/allergen changes, which is helpful.
Q: Has nutrition, diet, and exercise become a more important part of your daily life?
A: I would say nutrition plays a part, particularly how many carbohydrates and how much alcohol are consumed. My ability to exercise may be less than others, but physical activity gives me stress relief and a way to preserve heart and lung health. I have to be vigilant and it’s hard but worth it.
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Q: How important is social media as a source of information and inspiration to support you?
A: I definitely utilize Facebook support groups. It helps me to not feel alone as I notice others are supportive and in the same boat as me. It is more of a support than a source of information, though I have learned a lot through these groups.
Q: Was it difficult to find an “expert” to help you navigate your treatment path?
A: My AlphaNet coordinator was very helpful at giving me good information and helping me figure out the next steps in my treatment plan. My doctor helped me make decisions but my coordinator, who has AATD, told me about resources that would help me and assured me I was not alone.
Q: Can you briefly describe how your life has changed post rare disease diagnosis?
A: I don’t have the energy of a healthy person anymore and I often wonder if I will ever be able to work full-time again. Now I know what to do to keep my health a little longer. I am getting infusions every week (AAT injected via IV) that have put another limit on how much I can work as they call for at least one extra day off work.
Q: Have treatment costs prohibited you from receiving the best options?
A: No, not at all! I have received help from Medicaid as I cannot afford insurance, working part-time. So far they have covered the cost of the infusions and doctor visits. My pulmonologist also helps with costs when he can. I count myself very fortunate.
Q: Are your family members and friends aware of your condition and supportive?
A: My family is aware and supportive, and my friends are also, although I often have to explain why my condition often interrupts normal activity. Most of these people are very supportive and try to be sensitive to my needs. I am grateful for them.