Knowledge is Power: My Alpha-1 Journey
I’m one of nine children, so I come from a big family. Both of my parents are healthy people. Growing up, there wasn’t any indication of the possibility of a rare genetic condition, let alone any sign that four of us would be diagnosed with the same one! I, along with three of my siblings, live with Alpha-1 Antitrypsin Deficiency (Alpha-1), a genetic condition in which there is not enough of a protein called alpha-1 antitrypsin (AAT) in my blood.1 This lack of AAT can lead to serious lung and/or liver disease in some patients. In my case, it only impacted my lungs.
My siblings and I all found out we had Alpha-1 in such a surprising, fluke way: One of my sisters was diagnosed when she donated blood. The doctor requested for all nine of us come in to get tested together. What are the chances? Nine finger pricks and a couple of phone calls later, we discovered that four of us lived with the exact same condition. None of us were prepared for that news. I was 35 when I found all of this out, and I didn’t have a single symptom for nearly 30 more years.
As it turns out, both of my parents were carriers but never knew it, which can be common with rare conditions. If you haven’t heard of this disease, you’re not the only one. How do I describe it? AAT is needed in my blood to help protect my lungs from inflammation caused by infection and inhaled irritants. With Alpha-1, I have low levels of AAT in my blood because it cannot be released from my liver at a normal rate.1 Living with Alpha-1 makes me very aware of my surroundings, particularly the air quality and other pollutants that can impact my lung health. If we get sudden weather changes here in Utah, or if it’s windy and there’s a lot of stuff blowing around, I try not to leave the house. That’s probably the biggest way Alpha-1 disrupts my life. However, I do my best to remain positive because I have a fun-loving husband and two cats to cuddle with at home, and I know I need to try to stay healthy for my amazing grandkids!
After discovering that my sister, two brothers, and I all lived with Alpha-1, the doctors told us it was the genetic ZZ phenotype. As a result, our doctor told us not to drink, smoke, and to avoid areas with polluted air. My sister and I did all the research and educated ourselves on Alpha-1 to make the best choices for ourselves and our bodies. I have always felt like knowledge is power, so I wanted to learn as much as I could about Alpha-1.
Our brothers, however, didn’t take the same path. Unfortunately, we lost one of them in 2019 due to complications with Alpha-1. That was a more recent reminder to take care of myself with this condition. While my sister and I continued to do well with our symptoms for many years, we watched both of our brothers slowly decline; it was upsetting to see. Getting diagnosed all together with a rare condition is a lot for any one family to handle — but losing a sibling to that same condition was too much.
In 2018, before my brother’s passing, I started to notice that my lung condition was worsening. I was 62, and it was the first time since my diagnosis that I felt unwell. I felt frustrated and decided to discuss options with my pulmonologist, including augmentation therapy. Of course, I wanted to go home and research as much as I could about it before deciding. I spoke to my brother, who at this point in his journey was on augmentation therapy, and he encouraged me to get on board and give it a shot. One of the hardest parts of getting the news about my lung condition was the emotional impact it had on me. Even with treatment, my doctor said that unfortunately augmentation therapy would not repair my lungs.
My husband and I had decided to move away from the city — and the pollution — to a more rural area outside of Salt Lake City with fresher air, with the hopes of limiting environmental factors that could potentially make my condition worse. However, my next lung test showed zero improvements. I went to the doctor for regular testing. It was at that moment my doctor suggested that it might be a good idea for me to try a treatment called GLASSIA® [Alpha1-Proteinase Inhibitor (Human)]. He told me that GLASSIA is a medicine containing human Alpha1-Proteinase Inhibitor (Alpha1-PI) also known as AAT and is used to treat adults with lung disease (emphysema) because of severe AAT deficiency.2 He also told me that GLASSIA is not meant to be used as a therapy in individuals with lung disease other than severe Alpha1-PI deficiency. It increases the Alpha-1 protein in your blood and lungs. My doctor made it clear that this wasn’t a cure but rather something that helps maintain my Alpha-1 protein levels. My doctor also explained the risks including that GLASSIA can cause severe allergic reactions including hives, swelling in the mouth or throat, itching, tightness in the chest, trouble breathing, wheezing, faintness or low blood pressure and that the most common side effects that may occur are headache and upper respiratory infections.
After weighing the pros and cons of beginning this new treatment with my doctor and family, I decided to try GLASSIA, a once-a-week infusion.2 Thankfully, Takeda’s OnePath patient support team* helped arrange for a nurse to come to our home to train my husband and me on administering my infusion.** I found that the option of self-infusion in my home was convenient and worked well with my lifestyle because I wouldn’t have to travel to the clinic for my infusions. It was also important for me personally to be able to take my infusions on my own in a peaceful environment. The first few times my husband and I set them up, we were nervous. It was a brand-new experience for us. However, the nurse’s guidance helped us get comfortable with making my infusions a regular part of our weekly routine. Additionally, the Alpha-1 patient community has been a great support system for me. I’ve been able to make many friends on the platforms although we’ve never met in person.
It’s now been three years since I started my treatment with GLASSIA. Alpha-1 presented a new challenge in my life — one that, at times, was scary, but I’m thankful to have found a treatment that works for me.
Here’s my advice for those just beginning their journey with Alpha-1: Be positive because being negative drags you down. I believe knowledge is power. Keep in close communication with your doctor to find a management plan that works for you.
What is GLASSIA?2
GLASSIA is a medicine containing human Alpha1-Proteinase Inhibitor (Alpha1-PI) also known as alpha1-antitrypsin (AAT) and is used to treat adults with lung disease (emphysema) because of severe Alpha1 antitrypsin (AAT) deficiency. GLASSIA is not meant to be used as a therapy in individuals with lung disease other than severe Alpha1-PI deficiency. Effects of GLASSIA on worsening lung function and emphysema progression have not been proven in clinical trials. Long-term effects of Alpha1 replacement and maintenance therapy have not been studied.
IMPORTANT SAFETY INFORMATION2
What is the most important information I need to know about GLASSIA?
- GLASSIA can cause severe allergic reactions including hives, swelling in the mouth or throat, itching, tightness in the chest, trouble breathing, wheezing, faintness or low blood pressure
- If you will be taking GLASSIA outside a healthcare setting, ask your healthcare provider (HCP) about an epinephrine pen and/or other supportive care for certain severe allergic reactions.
Who should not use GLASSIA?
Do not use GLASSIA if you:
- Have immunoglobulin A (IgA) deficiency with antibodies to IgA
- Have a severe allergic reaction to human Alpha1-PI products.
What are the possible or reasonably likely side effects of GLASSIA?
If any of the following problems occur contact your healthcare provider (HCP) or call emergency services right away:
- Worsening or flare-up of your chronic obstructive pulmonary disease (COPD)
- Hives, swelling in the mouth or throat, itching, chest tightness, trouble breathing, wheezing, fainting or dizziness. These could be signs of a serious allergic reaction.
The most common side effects that may occur are headache and upper respiratory tract infections
Other possible side effects of GLASSIA include:
- Sinus infection
- Chest discomfort
- Increased liver enzymes
- Shortness of breath
These are not all the possible side effects. Tell your HCP about any side effect that bothers you or that does not go away.
For additional safety information, click for Information For Patients including Instructions For Use and discuss with your HCP.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.
1Alpha-1 Foundation “What is Alpha-1”. Brochure. Available at: https://www.alpha1.org/Alpha1/wp-content/uploads/2019/09/Alpha1Brochure.pdf. Accessed November 2021; page 2
2GLASSIA [Alpha1-Proteinase Inhibitor (Human)] Injection Solution, Prescribing Information. Lexington, MA: Baxalta U.S. Inc. June 2017.
*OnePath is open to all patients taking GLASSIA for its indicated use and who complete the GLASSIA OnePath Start Form, which provides OnePath with consent to provide services.
**If self-administration is deemed appropriate, ensure that the patient/caregiver receives detailed instructions and adequate training on how to administer in the home or other appropriate setting and has demonstrated the ability to independently administer GLASSIA.