Alpha-1 Antitrypsin Deficiency

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Alpha-1 Antitrypsin Deficiency
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    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 ® [Alpha 1 -Proteinase Inhibitor (Human)]. He told me that GLASSIA is a medicine containing human Alpha 1 -Proteinase Inhibitor (Alpha 1 -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 Alpha 1 -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 Alpha 1 -Proteinase Inhibitor (Alpha 1 -PI) also known as alpha 1 -antitrypsin (AAT) and is used to treat adults with lung disease (emphysema) because of severe Alpha 1 antitrypsin (AAT) deficiency. GLASSIA is not meant to be used as a therapy in individuals with lung disease other than severe Alpha 1 -PI deficiency. Effects of GLASSIA on worsening lung function and emphysema progression have not been proven in clinical trials. Long-term effects of Alpha 1 replacement and maintenance therapy have not been studied. IMPORTANT SAFETY INFORMATION 2 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 Alpha 1 -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: Cough Sinus infection Chest discomfort Dizziness Increased liver enzymes Shortness of breath Nausea Fatigue 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. 1 Alpha-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 2 GLASSIA [Alpha 1 -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. US-GLA-0338v1.0 03/2022

    Community Voices

    Better understanding of rare diseases.

    Alpha 1 Antitrypsin deficiency is a rare disease causing numerous physical problems science cannot even detect. So little research is being done medical science has a limited idea of what this condition can actually cause. For example my son has Alpha 1 and during a routine chest xray they found he has a collapsed trachea and needs significant surgery to correct this. He also has some vascular problems that should not be seen in a 39 year old. MDs say these coincidental problems are not caused by Alpha 1 but do they really know without the research to fully comprehend this disease. Of course I understand not much money is thrown at rare medical conditions across the board, but when the rare disease affects your family the rarity of the disease quickly dissipates. So whats the answer? I don't know but I do see much money given by the federal government to other countries, support issues not really concerning the American people (ie: giving $150,000 to the Dali Lamma or $31 million to South Korea). Money needs to be funneled to American needs like research to help understand some of these rare syndromes. Unfortunately, governments everywhere do not appear to think like I do and maybe for reasons unknown to me. Whatever the case is, I already lost my daughter to Alpha 1 I don't want to lose my son too.
    Ken Stanek PhD

    #Alpha1AntitrypsinDeficiency

    Community Voices

    Deadly disease

    <p>Deadly disease</p>
    2 people are talking about this
    Community Voices
    Community Voices
    Community Voices

    "K#illing me softly"

    Sarcasm, and "a dark sense of humor", is a great way to confuse others when you don't want to tell them how you feel inside!
    However, there's nothing soft about choking to death!
    When some strange substance in your lungs (and lack of substance at the same time) makes every movement exhausting, and the lack of oxygen eats away on your memory, concentration and ability to remember your words as you speak them....
    You know you ARE going to die, and that the death will most likely be a painful one, because you also suffer from claustrophobia and fear of not getting enough air - and what you want the most is to just go to sleep and never wake up again! Pass on with dignity!
    Had it been the big C - cancer - you know you will get enough pain medication to not care if it's dignified or not, but nooo - you're not that "lucky"!
    So, what's the option? Had I been 10 - 15 yers younger, I'd most likely be put on the transplant list for new lungs, but I'm too old now - both to get on the list in time, and to enjoy a new pair of lungs should you be lucky enough to get a pair. So - the question remains the same - what's the option? What can I do?
    I really want to die, to go on, but with this blasted COVID I can't even say goodbye to my children, because they live on a different continent!
    So the real question is - can I tolerate life until this blasted pandemic is over, and they can come visiting?
    Fact is - I don't know! I REALLY din't know, and it tears me up inside!!

    What kind of illness is it, you wonder? It's an inherited form of COPD called Alpha1 Antitrypsin Deficiency, the lung-affected variety! (There is one that affects the liver as well - or both!)
    It started as Chronic Bronchitis when I was in my mid 20's, then some 25+ years later I developed Emphysema!
    I was also infected with an overgrowth of a fungus in my lungs that colonized (called Pseudomonas Aeriguosa), and the"grapes" in my Bronchies, called Alveolaes "popped" and made air pockets - BIG air pockets!
    So now my lungs consists of Emphysema, colonized fungus and "air pockets" that prevent the blood to transport oxygen around in my body, and not least to the brain!

    I've come to the conclusion that the most important organ in our body is the lungs! NPTHING in your body will work if it doesn't get oxygen! Your heart won't have anything to work with, the brain won't function, and then the rest will shut down as well.

    I promise you - it's not a nice way to go!
    I'm a patient person, but I don't think I'm THAT patient - simply because I have no fear of death!
    - Oh - I forgot to mention.... unfortunately there's apparently no medicine that could ease and prolong my life AND give me a better quality of life dispensed in my country!
    You see - we're not many enough with this condition to validate the expense of the medicine that actually is out there, so our doctors have decided "there is not enough evidence that it works", so they won't use it!

    So the bottom line isn't how, really - but when?!

    2 people are talking about this
    Samantha Bowick

    Knowing the Long-Term Side Effects of Your Medication

    Some medications are necessary to keep people alive — such as radiation for cancer and augmentation therapy for alpha-1 antitrypsin deficiency — which can outweigh the side effects. However, with  other illnesses (such as endometriosis), those struggling are trying to decrease their pain and other symptoms as well as be able to bear children. I talk about hormone agonist medication frequently because of what I and so many others who are living with endometriosis have been through when we tried this as a treatment. This hormone agonist is an injection used to treat prostate cancer, but many doctors/gynecologists also use it to treat endometriosis. Because it is used for cancer treatment, this makes it a chemotherapy drug. Endometriosis is not cancer even though it can spread throughout any part of the body. So why are doctors trying to treat an illness that isn’t cancer with a chemotherapy drug? This is one question that has yet to be answered. Side effects that people who use hormone agonists can experience and doctors may not tell patients about include osteoporosis (thinning of the bones), suicidal ideations, brittle or breaking teeth, hot flashes/menopause/night sweats and headaches, among others. Oftentimes, these side effects are irreversible — meaning once you have them, they don’t improve. For example, once you break a tooth or have osteoporosis, you can try to prevent breaking other teeth by taking more vitamin d and calcium, but you can’t grow a tooth to replace it. Once you injure a bone, you can’t go back in time to not injure the bone. You can use crutches or a splint to try to heal the bone as much as possible, but it will never be the same. This is how side effects can be life-altering. Hormone agonists aren’t the only medication that cause harmful side effects, which may be worse than what the medication is trying to treat. Should money outweigh the side effects patients may experience from a medication? No. Is it true that doctors can’t predict which side effects each patient will have from the medication? Yes, but patients still have the right to know all of the information about the drug from their doctor upfront. Should doctors give patients all of the information about a medication before asking the patient if they want to use it as a form of treatment? Yes. Unfortunately, this isn’t how the health care system or the world works. We are responsible for looking up information about our illness, treatment options and any other important information that could affect our health care. We have to be our own advocate. Please research the treatment options being offered for your chronic illness as well as other options you may have before making a decision, because side effects may not go away and can be life-altering. It’s important to know the side effects that are possible and weigh your options with the illness you are trying to treat.

    Community Voices

    My mom has Alpha-1 antitrypsin deficiency and I’m a carrier. Alpha-1 antitrypsin deficiency occurs when the liver is unable to release an adequate amount of alpha-1 antitrypsin protein. It can cause shortness of breath, a large decrease in lung function in a short amount of time, chronic respiratory infections, as well as other symptoms. The only treatment specific to the alpha-1 antitrypsin protein is augmentation therapy. This will not increase the protein, but it will keep your levels around the same amount they are at when you start treatment.

    When my mom was diagnosed in 2009, we didn’t know anything about this chronic illness. She was her pulmonologist’s first patient so he did research after she was diagnosed. Honestly, we didn’t know what to ask or how she would be affected.

    Questions we could have asked would be: How would her quality of life be affected? Are there other treatments she could try? Are people with alpha-1 more likely to be hospitalized? Why isn’t this a test doctors perform on babies when they are born so they can start treatment and lifestyle changes as soon as possible?

    2 people are talking about this
    Samantha Bowick

    A Chronic Illness Survival Guide

    More than 100,000 individuals in the U.S. live with alpha-1 antitrypsin deficiency (A1AD), a rare genetic, incurable disease which causes the liver to not release a certain protein which protects and keeps the lungs functional. What do you do if you’re diagnosed? How about long-term? Understand Your Diagnosis. Take a step back and evaluate where your body is. It is important to understand your body, A1AD, augmentation therapy and lifestyle changes. Research all of your options. Do not let your doctor pressure you into any treatments you are not 100 percent on board with. Form a Team. You cannot do it alone. From physicians to family, it takes teamwork and specialists to put A1AD on the defense. Having support is crucial in fighting this illness. On days when we don’t feel like pushing to find answers anymore, those supportive people in our lives keep us going. It is also important that you feel like your doctor is listening to you. If you don’t feel this way, it may be time to find a new doctor. Connecting with others who also live with A1AD can be extremely helpful, because they understand and can relate more of what you are going through and validate how you’re feeling without making you feel judged. This can be a great tool for coping. Research, Research, Research. Did I mention research? Researching A1AD and everything that comes with the illness is crucial. Books such as “Living with Alpha-1 Antitrypsin Deficiency,” as well as websites and support groups are just a few research tools available for those who live with A1AD. Know Your Medications and Treatment Options. There are several different types of medications doctors may prescribe to try to combat symptoms related to A1AD: augmentation therapy, inhalers, nebulizer medications, antibiotics, anti-inflammatories, as well as others. Keep a List of Your Symptoms. Keeping a list of the symptoms you have been experiencing can help you and your doctor determine what is going on and the best course of action. It can also help you remember what to tell your doctor during your appointment, as doctor appointments can be overwhelming and cause anxiety. Also, keeping track of your oxygen saturation level can be helpful to determine if it is regular or irregular as pulmonologists usually check this at appointments. Know Risk Factors for Other Diseases. Unfortunately, A1AD can also come with comorbidities, or other diseases. These include, but are not limited to: chronic obstructive pulmonary disease (COPD), emphysema, asthma, bronchitis, influenza and pneumonia. Make sure you know about these in case they come up while living with A1AD or breathing difficulties. Be Kind to Yourself. This is important! When you don’t feel well, remember it is OK to take time for yourself, whether it’s to sleep/rest, take a relaxing bath or turn down plans because you don’t feel well. Other people may not understand, but that’s OK. They may not know or exactly get what you are going through, but it is important for you to take care of your body however you think you need to. Decrease Stress. It is hard to not feel too stressed, but it is important for those who live with breathing illnesses to try and decrease their stress as much as possible, as added stress can impact breathing. Light exercise (if you are up to it), yoga, reading, writing and coloring are just a few things you can do to try to relax. Stay Mentally Positive. One of the hardest parts of A1AD is not being able to do the activities you once could. This can lead to self-doubt, depression, stress and anxiety. It is important to stay as positive as possible for your health. Stay Committed. Improving your health and daily life requires an unwavering commitment to the principles and tenets we lay out in detail inside Living with Alpha-1 Antitrypsin Deficiency. The most important factor in putting A1AD on the defense is to make a commitment to finding answers if you haven’t already and do everything in your power to stay as healthy as possible. It’s important to remember everybody is different and something that works for you may not work for someone else.