Newly Diagnosed with Alpha-1: Your Complete Guide

You Are Not Alone—We're Here to Support Your Journey

Welcome to the Alpha-1 Community

If you've just been diagnosed with Alpha-1 Antitrypsin Deficiency, you likely have hundreds of questions, a whirlwind of emotions, and possibly feel overwhelmed.

First, take a deep breath. You've found us, and that means you're already on the right path.

Please know:

• You are NOT alone—thousands of people are living full, meaningful lives with AATD
• You have someone in your corner—the Mark Egly Foundation, your healthcare team, and an entire community ready to support you
• There are treatments available—FDA-approved therapies, supportive care, and promising research
• Your diagnosis is actually good news—you finally have answers, and you can now take action
• There is hope—brighter days ahead with proper management and support

We are building comprehensive resources to make your journey with Alpha-1 a smoother voyage—a voyage toward improved health, community, understanding, and the relief that comes from finally knowing what's been happening to your body.

This guide will walk you through everything you need to know in your first weeks and months after diagnosis.

If You're Reading This Within Days of Your Diagnosis

Take a Breath—It's Going to Be Okay

What you might be feeling right now:

• 😰 Overwhelmed by information
• 😔 Scared about the future
• 😤 Angry that this happened
• 😌 Relieved to finally have answers
• 😢 Grieving the life you thought you'd have
• 🤯 Confused by medical terminology
• 😞 Worried about family, children, finances
• 🤔 Uncertain about what to do next

All of these feelings are normal, valid, and shared by nearly everyone who has received this diagnosis.

Here's what you need to know right now:

1. You Have Time

• AATD is typically a slow-progressing condition
• You don't need to make all decisions today
• Take time to process, learn, and plan
• Immediate medical emergencies from AATD diagnosis alone are rare

2. Knowledge is Power

• The more you learn, the less scary it becomes
• Understanding your condition helps you make informed decisions
• But pace yourself—you don't need to become an expert overnight

3. You're Already Ahead

• Many people go decades undiagnosed
• You now know what you're dealing with
• Early diagnosis means earlier intervention and better outcomes
• You can prevent complications that might otherwise occur

4. Your Life Isn't Over

• People with AATD work, travel, exercise, have families, pursue dreams
• Treatment and lifestyle modifications allow most people to live well
• Your diagnosis doesn't define you—it's one part of your story

5. Support Exists

• Organizations dedicated to helping you (like this one!)
• Healthcare specialists who understand AATD
• Community of patients who "get it"
• Financial assistance programs
• Educational resources

Your First Steps After Diagnosis

Week 1: Process and Gather Information

Allow Yourself to Feel

• Give yourself permission to experience whatever emotions arise
• Talk to trusted friends or family
• Consider journaling
• Don't try to "stay strong" 24/7—it's okay to not be okay sometimes

Get Copies of Your Test Results

• Request complete testing records showing:
  • Serum AAT level (mg/dL)
  • Phenotype (ZZ, SZ, MZ, etc.)
  • Genotype if performed (specific genetic mutations)
  • Any lung function tests (spirometry)
  • Liver function tests
  • Imaging (chest X-ray, CT scan)
• Keep these in a dedicated health folder (physical and digital backup)

Start a Health Journal

• Document symptoms you've been experiencing
• Note when they started
• Track any patterns (worse with weather, activity, etc.)
• Record questions as they come up
• Bring this to appointments

Identify One or Two Trusted Support People

• Who can you talk to honestly?
• Who might attend appointments with you?
• Who will help you process information?
• Don't try to go through this alone

Week 2-4: Build Your Healthcare Team

Find an AATD Specialist

Why It Matters:

• General pulmonologists may have limited AATD experience
• Specialists stay current on treatments and research
• Better outcomes with experienced providers
• More efficient care coordination

How to Find One:

• Alpha-1 Foundation provider directory: alpha1.org
• AlphaNet can help connect you: 1-800-577-2586
• Academic medical centers often have AATD expertise
• Ask for referrals from your current doctors
• Connect with Mark Egly Foundation for recommendations

What to Look For:

• Experience treating AATD specifically
• Willing to answer questions thoroughly
• Collaborative approach (involves you in decisions)
• Access to augmentation therapy administration
• Connected to AATD resources and research
• You feel heard and respected

Assemble Your Core Team

Pulmonologist (Lung Specialist):

• Primary AATD physician for most people
• Manages augmentation therapy
• Monitors lung function
• Treats exacerbations

Hepatologist (Liver Specialist):

• If you have any evidence of liver disease
• Annual monitoring even if liver currently healthy
• Genetic liver disease expertise

Primary Care Physician:

• Coordinates overall health
• Manages non-AATD conditions
• Preventive care and screenings
• May be your main point of contact

Genetic Counselor:

• Explains inheritance patterns
• Discusses family testing
• Addresses reproductive concerns
• Helps you understand genetic results

Mental Health Professional:

• Therapist or counselor (HIGHLY recommended)
• Helps process diagnosis and adjust
• Manages anxiety, depression if present
• Chronic disease coping strategies

Other Specialists as Needed:

• Gastroenterologist (if GERD, digestive issues)
• Rheumatologist (if autoimmune symptoms)
• Physical therapist or pulmonary rehab team
• Registered dietitian
• Others based on your specific situation

Schedule Key Appointments

Within First Month:

• Pulmonologist or AATD specialist
• Primary care physician (inform of diagnosis)
• Genetic counselor (especially if family planning concerns)

Within First 3 Months:

• Hepatologist (initial liver assessment)
• Baseline testing completed (see below)
• Mental health professional (don't wait for crisis)
• Pulmonary rehabilitation evaluation (if appropriate)

Month 1-3: Complete Baseline Testing

Lung Function Assessment

Spirometry (Breathing Test):

• Measures how much air you can exhale and how fast
• Key values:
  • FEV1 (Forced Expiratory Volume in 1 second): Most important number
  • FVC (Forced Vital Capacity): Total amount of air you can exhale
  • FEV1/FVC ratio: Helps diagnose obstruction
• Establishes your baseline (future tests compare to this)
• Repeat every 3-6 months typically

Chest CT Scan:

• High-resolution images of lungs
• Shows emphysema if present
• Identifies location and severity of damage
• Baseline for future comparison
• Inspiratory and expiratory views (ideally)

Six-Minute Walk Test:

• Walk as far as you can in 6 minutes
• Measures exercise capacity
• Oxygen levels monitored during test
• Functional assessment
• Good for tracking changes over time

Pulse Oximetry:

• Measures blood oxygen saturation
• At rest and with exertion
• Determines if supplemental oxygen needed

Diffusion Capacity (DLCO):

• Measures how well oxygen transfers from lungs to blood
• Sensitive indicator of emphysema
• Helps assess disease severity

Liver Assessment

Blood Tests:

• Liver function panel: ALT, AST, bilirubin, alkaline phosphatase, albumin
• Complete metabolic panel
• Complete blood count
• INR/PT (clotting function)
• Alpha-fetoprotein (liver cancer screening if cirrhosis)

Liver Imaging:

• Ultrasound: First-line, non-invasive, checks for cirrhosis, liver size, masses
• FibroScan (transient elastography): Measures liver stiffness (fibrosis/cirrhosis)
• CT or MRI: If ultrasound shows abnormalities

Liver Biopsy:

• Only if imaging/blood tests suggest significant disease
• Determines extent of fibrosis or cirrhosis
• Not routine for everyone

Additional Baseline Tests

Exercise Testing:

• Cardiopulmonary exercise test (CPET) if available
• Provides detailed exercise capacity assessment

Bone Density (DEXA Scan):

• Assess for osteoporosis
• Especially important if:
  • History of corticosteroid use
  • Risk factors present
  • Age >50
  • Will be starting augmentation therapy

Nutritional Assessment:

• Weight, BMI
• Body composition if available
• Identify malnutrition early

Mental Health Screening:

• Depression and anxiety questionnaires
• Establishes baseline
• Identifies need for intervention

Month 2-3: Understand Your Treatment Options

Learn About Augmentation Therapy

What It Is:

• Weekly infusions of purified Alpha-1 Antitrypsin protein
• Raises AAT levels in blood and lungs
• Four FDA-approved products: Prolastin-C, Aralast NP, Zemaira, Glassia

Who Should Consider It:

• Traditional criteria: ZZ or SZ with lung disease (emphysema) and FEV1 35-60%
• Evolving perspective: Earlier treatment to prevent damage, not just treat it
• Discuss with your specialist whether it's right for you now or in future

Questions to Ask:

• Am I a candidate for augmentation therapy?
• What are benefits and risks in my specific case?
• Should I start now or wait and monitor?
• Clinic infusion vs. home administration?
• How will we monitor effectiveness?
• What about insurance coverage?

Learn More:

• See our comprehensive Medications & Treatments guide
• Talk to patients currently on therapy
• Connect with AlphaNet for insurance navigation

Understand Supportive Treatments

Bronchodilators:

• Open airways, reduce breathlessness
• Immediate benefit for many
• Various types and combinations

Pulmonary Rehabilitation:

• Supervised exercise and education program
• One of THE most beneficial interventions
• Improves exercise capacity, reduces symptoms, better quality of life
• Highly recommended even if you feel okay now

Lifestyle Modifications:

• Smoking cessation (if applicable)—CRITICAL
• Exercise program
• Nutrition optimization
• Avoiding lung irritants
• Stress management

Mental Health Support:

• Therapy, counseling, support groups
• Just as important as physical treatments

Understanding Your Test Results

AAT Levels and What They Mean

Normal AAT Level:

• 90-200 mg/dL (varies slightly by lab)
• Adequate protease inhibition

Deficient Levels:

• Severe deficiency: <50-57 mg/dL (ZZ, SZ, rare variants)
  • Highest risk for lung disease
  • Consider augmentation therapy
• Moderate deficiency: 57-90 mg/dL (some SZ, MZ)
  • Variable risk
  • Monitor closely
  • May benefit from preventive strategies
• Mild deficiency: 90-100 mg/dL (some MZ)
  • Typically minimal risk
  • Monitor if other risk factors

Phenotypes Explained

What Phenotype Means:

• Describes which variants of AAT gene you have
• Two copies (one from each parent)
• Letters indicate protein variants (M = normal, Z = most common deficient, S = mild deficient, and others)

Common Phenotypes:

MM (Normal):

• Two normal genes
• Normal AAT levels
• Not AATD (but can still have lung/liver disease from other causes)

ZZ (Severe Deficiency):

• Two Z variants
• AAT level typically 10-15% of normal
• Highest risk for lung disease (emphysema)
• Some risk for liver disease
• Candidates for augmentation therapy

SZ (Moderate-Severe Deficiency):

• One Z, one S
• AAT level typically 35-40% of normal
• Increased risk for lung disease (especially with smoking)
• May qualify for augmentation therapy
• Liver disease less common than ZZ

MZ (Carrier):

• One normal, one Z
• AAT level typically 60-80% of normal
• Controversial risk (most do fine, but small increased risk with other factors)
• Usually NOT candidates for augmentation therapy
• Monitor lung function, avoid smoking
• Some debate about liver disease risk

SS (Mild Deficiency):

• Two S variants
• AAT level 70-80% of normal
• Generally not at increased risk
• Monitor if other risk factors present

Rare Variants:

• Null, F, I, M(Malton), M(Heerlen), and others
• Variable risk depending on specific variant
• Genetic counselor can explain

Key Point:
Your phenotype doesn't determine your destiny—it indicates risk. Many factors influence actual disease development.

Spirometry Results Decoded

FEV1 (Forced Expiratory Volume in 1 Second):

• Most important lung function measurement
• Reported as:
  • Absolute value (liters)
  • Percent predicted (compares to healthy person your age, sex, height, race)

What Percent Predicted Means:

• ≥80%: Normal or near-normal
• 70-79%: Mild obstruction
• 60-69%: Mild obstruction
• 50-59%: Moderate obstruction
• 35-49%: Moderate-severe obstruction
• <35%: Severe obstruction
• <25%: Very severe obstruction (consider transplant evaluation)

Baseline FEV1:

• Your starting point
• Future tests compare to this
• Rate of decline more important than single number
• Normal decline: ~20-30 mL/year in adults
• AATD with smoking: can be 50-150+ mL/year (very fast)
• AATD non-smoker: often 40-80 mL/year (faster than normal)
• Goal: slow decline as much as possible

FEV1/FVC Ratio:

• <70% (or <0.70): Obstruction present (COPD/emphysema pattern)
• Normal: ≥70-75% (varies by age)

Genetic and Family Considerations

Should I Tell My Family?

Why It Matters:

• AATD is genetic (inherited)
• Family members may be at risk
• Early detection in relatives prevents years of undiagnosed symptoms
• Allows preventive measures (avoid smoking, monitor lung function)

Who Should Be Tested:

• First-degree relatives (parents, siblings, children): Highest priority
• Second-degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings)
• Extended family: If multiple affected individuals

How to Have the Conversation:

• Choose a calm, private time
• Explain what AATD is simply
• Emphasize that testing is a simple blood test
• Knowledge is power—early detection helps
• Offer to share resources
• Connect them with genetic counselor
• Be available for questions

What if They Don't Want to Know?

• Respect their decision
• Leave door open for future conversation
• Offer information in writing they can review later

Family Planning and AATD

If You're Considering Having Children:

Inheritance Patterns:

• Each parent passes one AAT gene copy to child
• If you're ZZ: all your children inherit at least one Z (carrier or affected depending on other parent)
• If partner is MM (normal): all children will be MZ (carriers, usually not affected)
• If partner is also ZZ: all children will be ZZ (affected)
• If partner is MZ: 50% chance child is MZ (carrier), 50% chance ZZ (affected)

Partner Testing:

• Recommended before or early in pregnancy
• Simple blood test
• Determines risk to children
• Allows informed decision-making

Options if Both Partners Deficient:

• Natural conception (accept risk)
• Preimplantation genetic diagnosis (PGD/IVF—select unaffected embryos)
• Donor egg or sperm
• Adoption
• Decide not to have children
• No "right" answer—personal decision based on values, resources, circumstances

Genetic Counseling:

• ESSENTIAL for family planning discussions
• Explains risks clearly
• Presents all options without judgment
• Supports your decision-making

Important:

• Many people with AATD have healthy, happy children (even if affected)
• AATD is manageable with proper care
• Early diagnosis of children allows prevention
• Each family's decision is personal and valid

Financial and Insurance Navigation

The Reality: AATD Care is Expensive

Costs You May Face:

• Augmentation therapy: $100,000-200,000+ per year
• Medications: $1,000s-$10,000s annually
• Doctor visits, testing, procedures
• Hospitalizations if exacerbations occur
• Lost income if work affected

Don't Let Cost Prevent Treatment:
Help is available. Almost no one pays full price for augmentation therapy.

Insurance Coverage Strategies

If You Have Insurance:

Prior Authorization:

• Most insurers require pre-approval for augmentation therapy
• Process can take weeks to months
• Need documentation:
  • Diagnosis (AAT level, phenotype)
  • Evidence of lung disease (CT scan, spirometry)
  • Smoking status (must be non-smoker)
  • Medical necessity letter from doctor
• AlphaNet helps with this for FREE (1-800-577-2586)

Appeals if Denied:

• Don't give up after first denial
• Many denials overturned on appeal
• AlphaNet and Foundation can help
• Document everything
• Get support from physician
• Peer-to-peer review (doctor to doctor)
• External review if internal appeals fail

Specialty Pharmacies:

• Most augmentation therapy goes through specialty pharmacies
• They often have financial coordinators
• Can help with prior authorization and appeals
• Compare prices and services between pharmacies

Maximizing Benefits:

• Understand your plan (deductible, out-of-pocket max, coinsurance, copays)
• In-network vs. out-of-network
• Medical vs. pharmacy benefit (augmentation therapy may be either)
• HSA/FSA accounts (pre-tax dollars for medical expenses)
• Timing major expenses around calendar year (deductible resets)

If You Don't Have Insurance:

Affordable Care Act (ACA) Marketplace:

• HealthCare.gov (federal) or state exchanges
• Special Enrollment Period if you lost coverage
• Subsidies available based on income
• Cannot be denied due to pre-existing conditions
• Compare plans carefully (AATD treatment is expensive—may want lower deductible)

Medicaid:

• If income-eligible (varies by state)
• Medicaid expansion states have higher income limits
• Typically covers augmentation therapy
• Application through state

Medicare:

• Age 65+ or disabled
• Part B covers augmentation therapy administered in clinic/hospital
• Part D may cover home infusion
• Medigap or Medicare Advantage for supplemental coverage
• Still have copays/coinsurance—financial assistance programs help

Disability Benefits:

• Social Security Disability Insurance (SSDI)
• Supplemental Security Income (SSI)
• Qualifies you for Medicare (after 2-year waiting period for SSDI)
• Difficult to qualify with AATD unless severe
• Consider disability attorney if denied

Financial Assistance Programs

Pharmaceutical Company Programs

Each manufacturer offers support:

Grifols (Prolastin-C):

• Prolastin Patient Support Program
• Copay assistance
• Free product for uninsured (if qualify)
• Case management

CSL Behring (Zemaira):

• CSL Behring Patient Connect
• Copay assistance
• Bridge program if insurance delays
• Reimbursement support

Takeda (Aralast NP, Glassia):

• Takeda Patient Support
• Copay cards
• Patient assistance program
• Insurance navigation

Octapharma:

• octapay copay assistance program

How to Apply:

• Contact programs directly (websites, phone numbers from company)
• Specialty pharmacy can often help with applications
• Provide financial documentation
• Reapply annually

Independent Assistance Organizations

HealthWell Foundation:

• Copay assistance grants for AATD
• Income requirements (typically <500% federal poverty level—surprisingly high)
• Funds limited, awarded first-come, first-served
• Application online: healthwellfoundation.org
• Reopen periodically when funded

Patient Advocate Foundation (PAF):

• Copay relief program
• Case management
• Insurance disputes
• Financial resources
• patientadvocate.org

Patient Access Network (PAN) Foundation:

• Disease-specific funds
• Income limits
• panfoundation.org

NeedyMeds:

• Database of assistance programs
• Discount card for prescriptions
• Free/low-cost clinic directory
• needymeds.org

RxAssist:

• Patient assistance program database
• rxassist.org

AlphaNet (FREE Resource)

Critical Resource for Financial Navigation:

• Case managers (nurse coordinators) at NO COST
• Help with:
  • Insurance enrollment
  • Prior authorizations
  • Appeals and denials
  • Financial assistance applications
  • Connecting to resources
  • Education and support
• Contact: 1-800-577-2586 or alphanet.org
• USE THIS RESOURCE—it's free and invaluable

Other Strategies

Tax Deductions:

• Medical expenses >7.5% of adjusted gross income are deductible
• Includes insurance premiums, treatments, mileage to appointments, etc.
• Keep meticulous records
• Consult tax professional

Hospital Financial Assistance:

• Nonprofit hospitals have charity care programs
• May reduce or eliminate bills if income-eligible
• Ask about financial assistance/charity care policy
• Apply even if not sure you qualify

Clinical Trials:

• Investigational treatments provided free
• Close medical monitoring
• Contributing to research
• Search ClinicalTrials.gov for "Alpha-1 Antitrypsin"
• Ask your specialist about trials you might qualify for

Lifestyle Modifications: What You Can Control

1. Quit Smoking (If You Smoke)

THE Most Important Thing You Can Do:

• Smoking accelerates AATD lung damage 10-fold or more
• Drastically shortens lifespan with AATD
• Even a few cigarettes a day are harmful
• Quitting improves outcomes at ANY stage
• AATD + smoking = severe emphysema by 30s-40s often
• AATD + no smoking = many live normal lifespan

You MUST quit. No exceptions. Non-negotiable.

Resources:

• Quitline: 1-800-QUIT-NOW (FREE counseling)
• Smokefree.gov (texts, apps, live chat)
• Medications: nicotine replacement, varenicline, bupropion
• Your doctor (prescription support)
• Behavioral counseling
• Support groups

It's Hard, But You Can Do It:

• Most people need multiple attempts
• Each attempt brings you closer to success
• Use all available resources
• Your life literally depends on it with AATD

2. Avoid Secondhand Smoke and Environmental Exposures

Protect Your Lungs:

• Secondhand smoke (avoid completely—ask family/friends to smoke outside, away from you)
• Vaping, e-cigarettes (not safe alternatives)
• Marijuana smoke (if you use cannabis, consider edibles—but discuss with doctor)
• Air pollution (check Air Quality Index, stay indoors on bad days)
• Occupational exposures (dust, fumes, chemicals—may need job change)
• Wood smoke, fireplaces (use sparingly, ensure good ventilation)
• Strong fragrances, scented products (candles, incense, air fresheners—can irritate lungs)
• Cleaning products (choose unscented, natural, or wear mask)

Improve Indoor Air Quality:

• HEPA air purifiers (especially bedroom)
• Avoid dusty environments
• Proper ventilation
• HVAC filter maintenance (change regularly, use high-quality filters)
• Control humidity (30-50% ideal)
• No smoking indoors ever

3. Start or Maintain Exercise Program

Exercise is Medicine:

• Improves lung function and exercise capacity
• Reduces breathlessness over time
• Strengthens muscles (including breathing muscles)
• Improves mood and mental health
• Better quality of life
• May reduce exacerbations

Getting Started:

• Talk to your doctor first
• Consider pulmonary rehabilitation (best option)
• Start slow—even 5-10 minutes daily helps
• Gradually increase duration and intensity
• Include aerobic (walking, cycling, swimming), strength, and flexibility
• Consistency more important than intensity
• Use oxygen during exercise if prescribed

Overcome the Fear:

• "Will exercise hurt my lungs?" No—appropriate exercise helps
• "I'm too breathless to exercise." Start very small, build gradually, use oxygen
• "I'll cause an exacerbation." Appropriate exercise doesn't cause exacerbations
• Pulmonary rehab teaches you how to exercise safely and effectively

4. Optimize Nutrition

Why It Matters:

• Malnutrition worsens outcomes
• Increased calorie needs with lung disease (work of breathing)
• Adequate protein maintains muscle
• Anti-inflammatory diet may help

Key Principles:

• Adequate calories (may need more than you think)
• High-quality protein at each meal
• Colorful fruits and vegetables (antioxidants)
• Whole grains
• Healthy fats (olive oil, nuts, fatty fish)
• Hydration (8+ glasses daily unless restricted)
• Small, frequent meals if breathless while eating
• Limit processed foods, sugar, excessive salt

Avoid Unintentional Weight Loss:

• Weigh regularly
• If losing weight unintentionally → see dietitian ASAP
• Nutritional supplements (shakes, smoothies) if needed

Consider Dietitian:

• Registered dietitian
• Ideally experienced with pulmonary patients
• Individualized meal plan
• Addresses specific challenges

5. Prioritize Sleep

Quality Sleep Essential:

• Healing and recovery
• Immune function
• Mood and cognitive function
• Energy for next day

Sleep Hygiene:

• Consistent schedule
• Dark, quiet, cool room
• Comfortable sleep position (elevate head if breathless)
• Limit screens before bed
• Relaxation routine
• Avoid large meals, alcohol, caffeine before bed

Address Sleep Issues:

• Snoring, witnessed apneas → sleep study (test for sleep apnea)
• Nocturnal breathlessness → discuss oxygen with doctor
• Insomnia → cognitive behavioral therapy for insomnia (CBT-I), sometimes medication
• Nightmares, anxiety-related sleep issues → mental health treatment

6. Manage Stress

Stress Worsens Everything:

• Triggers breathlessness
• Weakens immune system
• Increases inflammation
• Impairs decision-making and coping

Stress Management Techniques:

• Deep breathing exercises
• Meditation, mindfulness
• Yoga, tai chi
• Progressive muscle relaxation
• Time in nature
• Enjoyable activities
• Social connection
• Therapy/counseling
• Set boundaries (it's okay to say no)
• Delegate tasks
• Ask for help

7. Prevent Infections

Infections = Exacerbations:

• Lung infections can worsen disease and cause permanent damage
• Prevention is key

Strategies:

• Vaccinations (flu, pneumonia, COVID, RSV, others—see your doctor)
• Hand hygiene (wash frequently, especially before eating or touching face)
• Avoid sick people
• Mask in crowded indoor spaces during illness season (if high risk)
• Stay home if you're sick (don't tough it out)
• Treat infections promptly (don't wait—call doctor at first sign)
• Dental care (oral health affects lung health—brush, floss, regular cleanings)
• Adequate sleep and nutrition (supports immune system)

8. Monitor Your Health

Self-Monitoring:

• Symptoms (cough, breathlessness, sputum color/volume, fatigue, fever)
• Weight (weekly)
• Pulse oximetry at home (if prescribed)
• Activity tolerance
• Mood and mental health

Know Your Baseline:

• What's "normal" for you?
• Recognize changes early
• Track trends

Action Plan:

• When to call doctor (worsening symptoms)
• When to go to ER (severe breathlessness, chest pain, etc.)
• Emergency contacts
• Medication list always with you
• Medical alert bracelet or card

Regular Follow-Up:

• Keep all scheduled appointments
• Spirometry typically every 3-6 months
• Bloodwork (liver function, AAT level) annually or as needed
• Imaging as recommended
• Don't skip appointments even if feeling well—monitoring catches problems early

Building Your Support System

Types of Support You Need

1. Medical Support

• AATD specialist or experienced pulmonologist
• Other medical specialists as needed
• Pulmonary rehabilitation team
• Mental health professional
• AlphaNet case manager

2. Practical Support

• Help with daily tasks when needed
• Transportation to appointments
• Assistance with insurance, paperwork
• Financial support if able to work less
• Household help (cleaning, cooking, childcare)

3. Emotional Support

• People you can talk to honestly
• Who listen without judgment
• Validate your feelings
• Encourage and give hope
• Celebrate victories with you

4. Informational Support

• Reliable, accurate AATD information
• Help understanding medical information
• Resources and referrals
• Navigation of healthcare system

5. Peer Support

• Others with AATD who "get it"
• Shared experiences
• Practical tips from those who've been there
• Reduce isolation
• Hope from seeing others living well

Where to Find Support

AATD Organizations

Alpha-1 Foundation:

• Educational resources
• Support groups (in-person and online)
• Annual conference (AlphaNet Conference)
• Research funding
• Provider directory
• Phone: 1-800-GO-ALPHA-1
• Website: alpha1.org

AlphaNet:

• FREE case management (disease management coordinators)
• Insurance navigation
• Financial assistance applications
• Education and resources
• Support groups
• Phone: 1-800-577-2586
• Website: alphanet.org

Mark Egly Foundation:

• Ask the MD: Expert physician Q&A
• Alpha1 Friend Network: Peer support and community
• Alpha1 360°: Comprehensive care coordination
• Educational webinars and resources
• Advocacy for better care and earlier treatment
• Phone: 1-800-MARK-EGLY
• Website: markeglyfoundation.org

COPD Foundation:

• COPD360social (online community—many AATD patients)
• Educational resources
• Support groups
• Website: copdfoundation.org

Online Communities

Facebook Groups:

• Search "Alpha-1 Antitrypsin Deficiency"
• Various groups with thousands of members
• Active discussions, questions, support
• Vet information carefully (not all advice is accurate)

Forums:

• Inspire COPD community (inspirecommunity.org)
• HealthUnlocked
• Various disease-specific forums

Benefits of Online Communities:

• 24/7 availability
• Connect with people worldwide
• Anonymity if desired
• Diverse experiences and perspectives

Cautions:

• Not medical advice
• Verify information with healthcare team
• Respectful participation
• Take breaks if overwhelming

In-Person Support Groups

Where to Find:

• Alpha-1 Foundation chapter near you
• AlphaNet support groups
• Better Breathers Clubs (American Lung Association)
• Hospital-based support groups
• Ask your pulmonologist

Benefits:

• Face-to-face connection
• Local resources and referrals
• Friendships
• See people thriving with AATD (hope)

Peer Mentorship

One-on-One Support:

• Mark Egly Foundation offers peer mentor matching
• Alpha-1 Foundation mentorship programs
• Connect with someone further along in journey
• Personalized guidance
• Build lasting relationship

Family and Friends

Don't Underestimate Importance:

• Often most important support
• Need to educate them about AATD
• Be honest about your needs
• Let them help (people often want to but don't know how)
• Share resources so they understand

If Family Not Supportive:

• Not uncommon unfortunately
• May not understand, may be in denial
• Focus on those who ARE supportive
• Build "chosen family" in AATD community
• Therapy can help process lack of family support

Mental Health: Just as Important as Physical Health

Expect Emotional Ups and Downs

Common Reactions After Diagnosis:

• Relief (finally know what's wrong!)
• Fear (what does this mean for my future?)
• Anger (why me? why did it take so long to diagnose?)
• Sadness/grief (for health loss, changed plans)
• Anxiety (about disease progression, finances, family)
• Guilt (genetic transmission to children)
• Overwhelm (too much information)
• Denial (can't be that bad, maybe it's a mistake)
• Hope (treatment available, support exists)

All of these are normal. You might experience several at once, or cycle through them.

When to Seek Professional Help

Don't "tough it out"—mental health treatment is part of AATD care.

Seek help if:

• Persistent sadness, hopelessness (>2 weeks)
• Anxiety interfering with daily life
• Panic attacks
• Difficulty sleeping
• Loss of interest in activities
• Thoughts of harming yourself
• Substance use to cope
• Relationship problems
• Can't stop worrying about health
• Avoiding medical care due to fear/anxiety

Types of Support:

• Therapy/Counseling: CBT, ACT, supportive therapy
• Medications: Antidepressants, anti-anxiety meds if needed
• Support Groups: Peer support
• Integrated Care: Some clinics have mental health professionals on pulmonary team

It's Not Weakness:

• Chronic illness affects mental health—it's expected
• Treatment improves both emotional wellbeing AND physical outcomes
• Taking care of mental health is smart and strong

What to Expect in the Coming Months

Month 1-3: Processing and Planning

• Emotional adjustment
• Learning about AATD
• Baseline testing completed
• Healthcare team established
• Treatment decisions discussed
• Connect with support resources

Month 3-6: Implementing Treatment Plan

• Start augmentation therapy (if indicated)
• Begin pulmonary rehabilitation (if appropriate)
• Lifestyle modifications underway
• Regular monitoring schedule established
• Support system in place
• Feeling more settled and less overwhelmed

Month 6-12: Adjusting and Optimizing

• Treatment routine normalized
• Seeing benefits of interventions
• More confident in managing condition
• Possibly helping newly diagnosed others
• Planning for long-term (travel, work, activities)
• Life feels more "normal" again

Year 2+: Living Well with AATD

• AATD is part of life, not whole life
• Effective management strategies in place
• Pursuing goals and dreams (with adaptations as needed)
• Connected to community
• Advocating for self and others
• Hope for future (research, new treatments)

Practical Tips from Others Who've Been Where You Are

What Newly Diagnosed Wish They'd Known

"I Wish Someone Had Told Me..."

1. "It gets easier. The first months are the hardest."
   • The overwhelm decreases
   • Knowledge reduces fear
   • Routines become second nature
   • You adjust to new normal
2. "Connect with others with AATD immediately."
   • They understand in ways others can't
   • Practical advice from experience
   • Hope from seeing others thrive
   • You're not alone
3. "AlphaNet is a lifesaver for insurance stuff."
   • Don't try to navigate insurance alone
   • Free help available
   • They know all the tricks
   • Saves enormous time and stress
4. "Augmentation therapy isn't as scary as it sounds."
   • Weekly infusions become routine
   • Most people tolerate well
   • Home infusion very convenient
   • Many feel better on it
5. "Don't Google excessively—talk to your doctor and connect with patients."
   • Dr. Google causes unnecessary panic
   • Your case is unique
   • Trustworthy sources only
   • Patients provide real-life perspective
6. "My prognosis is much better than I initially feared."
   • Early scary information may not apply to you
   • Proper management changes outcomes
   • Many people live normal lifespans
   • Focus on what YOU can control
7. "Mental health support is critical—don't skip it."
   • Chronic illness is hard emotionally
   • Therapy helps immensely
   • No need to white-knuckle it alone
   • Improves physical health too
8. "Pulmonary rehab was the best thing I did."
   • Improves breathing and function
   • Education invaluable
   • Meet others with lung disease
   • Wish I'd started sooner
9. "I can still do most things I love (with some modifications)."
   • Travel is possible
   • Exercise is possible (and beneficial!)
   • Work is often possible
   • Family life continues
   • Life isn't over
10. "Finding purpose in this—helping others—gave me hope."
    • Mentoring newly diagnosed
    • Fundraising for research
    • Advocacy work
    • Transforms pain into meaning
    • Like Mark did with the Foundation

Your Questions Answered

Common Questions from Newly Diagnosed

Q: How long will I live?
A: This varies enormously based on many factors:

• Genotype (ZZ vs. SZ vs. MZ)
• Smoking history
• Lung function at diagnosis
• Age at diagnosis
• Treatment adherence
• Other health factors

Many people with AATD, especially non-smokers who receive good care, live into their 70s, 80s, even 90s. Focus on what you can control—treatment, lifestyle, monitoring.

Q: Will I definitely get emphysema?
A: Not necessarily. ZZ non-smokers have high risk but not 100%. Some never develop significant lung disease. Augmentation therapy may prevent emphysema if started early enough (Foundation's advocacy position). Smoking massively increases risk. Early diagnosis and prevention are key.

Q: Can I still work?
A: Most people with AATD continue working, at least for many years. May need accommodations (avoid dust/fumes, flexible schedule for appointments). Some eventually need disability if disease advanced. Depends on job, disease severity, treatment response.

Q: Should I get life insurance now?
A: Difficult to get life insurance after AATD diagnosis (pre-existing condition). If you have coverage through employer, keep it. Disability insurance also challenging post-diagnosis. Consult insurance professional familiar with chronic disease.

Q: Can I still exercise?
A: Yes! Exercise is one of the best things you can do. May need to modify intensity, use oxygen, choose appropriate activities. Pulmonary rehab teaches safe exercise. Many patients run, cycle, swim, golf (like Mark!), etc.

Q: Can I travel?
A: Generally yes, with planning:

• Augmentation therapy: arrange infusions at destination or adjust schedule
• Oxygen: portable concentrators for travel, notify airlines
• Travel insurance: medical coverage important
• Medications: carry prescriptions, letter from doctor
• Research medical facilities at destination

Many patients travel extensively.

Q: Will my children definitely have AATD?
A: Depends on your genotype and partner's:

• If you're ZZ and partner MM (normal): all children MZ (carriers, usually not affected)
• If both parents ZZ: all children ZZ (affected)
• Other combinations: variable

Partner testing and genetic counseling recommended.

Q: Can AATD be cured?
A: Not yet. Current treatments replace missing protein but don't fix genetic defect. Gene therapy research may offer cure in future. For now, focus on management and prevention of complications.

Q: Why did it take so long to diagnose me?
A: AATD is rare (though likely underdiagnosed). Many doctors never see a case in training. Symptoms overlap with common conditions. Testing not routine. Unfortunately, delayed diagnosis is very common (average 5-7 years from symptoms to diagnosis). Now that you know, you can ensure others in your family are tested.

Q: What if I can't afford treatment?
A: Financial assistance available through multiple programs. AlphaNet helps navigate this. Most patients receiving augmentation therapy have assistance with costs. Don't let finances prevent you from getting appropriate care—ask for help.

Q: Is it safe to get pregnant if I have AATD?
A: Generally yes, with precautions. Discuss with healthcare team before conception. Augmentation therapy typically continued during pregnancy. Monitor lung function closely. Partner testing recommended. Genetic counseling important.

Q: Will I end up on oxygen? In a wheelchair? Needing a lung transplant?
A: Maybe, maybe not. Impossible to predict individual trajectory. Many people never need oxygen or transplant. Some eventually do. Focus on prevention and optimal management rather than worst-case scenarios. Cross those bridges if/when you come to them.

Q: How do I tell my employer?
A: Personal decision. Not required to disclose unless need accommodations. If you do tell:

• Focus on abilities, not limitations
• Emphasize treatment allows you to continue working
• Be specific about any accommodations needed
• Know your rights (Americans with Disabilities Act)
• HR or employee health can help

Q: Should I move to a different climate?
A: No strong evidence that climate matters for AATD (different from some other lung diseases). Avoid extreme cold (can trigger breathlessness) and air pollution. Otherwise, live where you're happy and have support. Don't uproot life unless other reasons to move.

Resources Checklist

Save These Numbers and Websites

Emergency:

• 911 (severe breathlessness, chest pain, medical emergency)
• National Suicide Prevention Lifeline: 988 (call or text)

AATD Organizations:

• AlphaNet: 1-800-577-2586 | alphanet.org
• Alpha-1 Foundation: 1-800-GO-ALPHA-1 | alpha1.org
• Mark Egly Foundation: 1-800-MARK-EGLY | markeglyfoundation.org

Support:

• COPD Foundation: copdfoundation.org
• American Lung Association: lung.org | 1-800-LUNGUSA

Smoking Cessation:

• 1-800-QUIT-NOW
• Smokefree.gov

Financial Assistance:

• HealthWell Foundation: healthwellfoundation.org
• Patient Advocate Foundation: patientadvocate.org
• NeedyMeds: needymeds.org

Research:

• ClinicalTrials.gov (search "Alpha-1 Antitrypsin")

Your Next Steps

Action Plan for This Week

• ☐ Allow yourself to feel whatever emotions arise—it's okay
• ☐ Get copies of all test results
• ☐ Start a health journal (symptoms, questions, appointments)
• ☐ Identify 1-2 trusted support people
• ☐ Call AlphaNet for free case management (1-800-577-2586)
• ☐ Join an online AATD support group (Facebook, etc.)
• ☐ Schedule appointment with AATD specialist or experienced pulmonologist (if not already done)
• ☐ Review insurance coverage
• ☐ Tell first-degree relatives they should be tested
• ☐ Start compiling questions for your doctor
• ☐ Be kind to yourself—this is a lot to process

Action Plan for This Month

• ☐ Complete baseline testing (spirometry, CT, bloodwork, etc.)
• ☐ Assemble healthcare team (pulmonologist, hepatologist, primary care, genetic counselor, therapist)
• ☐ Discuss treatment options with specialist
• ☐ Apply for financial assistance programs (if needed)
• ☐ Begin or reinforce healthy lifestyle habits:
  • Quit smoking (if applicable)
  • Start gentle exercise
  • Improve nutrition
  • Stress management practice
• ☐ Connect with at least one other person with AATD (peer support)
• ☐ Educate close family/friends about AATD
• ☐ Set up organizational system (folder for medical records, calendar for appointments)
• ☐ Attend support group (in-person or online)
• ☐ Schedule mental health appointment if not feeling okay emotionally

A Message of Hope

You've Got This

Dear Newly Diagnosed Friend,

If you're reading this, you're probably scared. Confused. Overwhelmed. Maybe angry. Possibly relieved. Likely a swirling mix of all of these.

We've been there. We get it. And we want you to know: You're going to be okay.

Yes, AATD is serious. Yes, it requires treatment, monitoring, lifestyle changes. Yes, your life has changed in some ways.

But here's what else is true:

• You finally have answers after possibly years of confusion
• Treatment options exist that weren't available even 10-20 years ago
• Research is advancing rapidly (gene therapy on the horizon!)
• A supportive community is waiting to embrace you
• Many people with AATD live long, full, meaningful lives
• You have more control over outcomes than you might think
• Your diagnosis doesn't define you—you're still YOU, with dreams, goals, relationships, and purpose

Mark Egly went ten years undiagnosed, believing doctors who said nothing was wrong, pushing himself harder as his body deteriorated. When finally diagnosed, he could have given up. Instead, he recovered, thrived, and founded this Foundation to ensure others wouldn't face the same struggles alone.

You're not alone either. We're here. The whole Alpha-1 community is here.

Take it one day at a time. Be patient with yourself. Ask for help. Connect with others. Follow your treatment plan. Take care of your body AND mind. Keep hope.

Life with AATD can still be beautiful. We promise.

Welcome to the Alpha-1 family. We're so glad you found us.

Connect with the Mark Egly Foundation

We're Here to Support You Every Step of Your Journey

🌐 Website: markeglyfoundation.org/newly-diagnosed

• Comprehensive resource library
• Downloadable new patient guides
• Video library (explaining AATD, treatments, living well)
• Blog with patient stories and tips

📞 Phone: 1-800-MARK-EGLY

• Speak with team member
• Get connected to resources
• Ask questions

✉️ Email: welcome@markeglyfoundation.org

• New patient support
• Resource requests
• Questions answered

🤝 Alpha1 Friend Network:

• Peer support community
• Online forums
• Local meetups
• One-on-one mentorship matching

🩺 Ask the MD:

• Expert physician Q&A
• Live webinars
• Submit questions anytime
• Evidence-based guidance

📚 Educational Programs:

• Newly Diagnosed webinar series
• Monthly support calls
• Annual conference
• Regional workshops

💪 Alpha1 360°:

• Comprehensive care coordination
• Holistic support (medical, emotional, practical, financial)
• Individualized care plans
• Navigation assistance

📱 Social Media:

• Facebook: @MarkEglyFoundation
• Instagram: @MarkEglyFoundation
• Twitter: @MarkEglyFdn
• YouTube: Mark Egly Foundation

📰 Newsletter:

• Monthly updates
• Research news
• Patient stories
• Tips and resources
• Sign up at markeglyfoundation.org

Remember: This is a marathon, not a sprint. Take your time. Be gentle with yourself. Reach out for help. You've got an entire community behind you.

Welcome to the journey. We're honored to walk alongside you.

Last Updated: December 2025
This guide is for educational purposes and should not replace consultation with your healthcare providers. Always discuss your specific situation with your medical team.