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Mental & Physical Health with Alpha-1

Optimizing Mind and Body While Living with AATD


Introduction

Living with Alpha-1 Antitrypsin Deficiency impacts far more than just your lungs or liver—it affects your entire sense of well-being, your mental health, your physical capabilities, and your identity.

Mark Egly's story illustrates this profoundly. As a professional golfer and dedicated athlete, Mark spent ten years pushing himself harder and harder, believing what he was told: "There's nothing wrong with you." When breathlessness increased, when fatigue set in, when recovery took longer, Mark didn't question his body—he questioned his effort. He trained harder. He conditioned more intensely. He refused to accept limits.

But something WAS wrong. A rarely diagnosed disease called Alpha-1 Antitrypsin Deficiency was silently damaging his body while he blamed himself for not being strong enough, fit enough, or determined enough.

This is the hidden burden of AATD: the psychological toll of undiagnosed or poorly managed chronic disease.

The Mark Egly Foundation is committed to educating and assisting individuals to maintain optimal mental health and physical health by:

  • ✅ First: Identifying the disease early (ending the diagnostic odyssey)
  • ✅ Then: Supporting every aspect of wellness—physical, mental, emotional, and social
  • ✅ Always: Recognizing that treating the whole person, not just the disease, leads to the best outcomes

This comprehensive guide addresses the full spectrum of mental and physical health challenges faced by people with AATD—and the evidence-based strategies to thrive despite them.


The Mental Health Impact of AATD

The Psychological Journey: From Symptoms to Diagnosis to Living with Disease

Pre-Diagnosis: The Invisible Struggle

What Many Experience:

  • ❌ Years of unexplained symptoms
  • ❌ Being told "nothing is wrong" or "it's anxiety" or "you're deconditioned"
  • ❌ Self-blame and doubt ("Am I imagining this?")
  • ❌ Frustration with medical system
  • ❌ Loss of identity (especially for athletes, active individuals)
  • ❌ Watching abilities decline without explanation
  • ❌ Fear of the unknown
  • ❌ Feeling dismissed, not believed, or gaslit by healthcare providers

Mark's Experience:
For ten years, Mark believed he just wasn't working hard enough. Each setback felt like personal failure. The undiagnosed disease didn't just damage his lungs—it eroded his confidence and sense of self.

The Psychological Toll:

  • Depression from inability to do what you once could
  • Anxiety about worsening symptoms
  • Isolation (pulling away from activities, relationships)
  • Anger at body "betraying" you
  • Grief for lost abilities and plans
  • Identity crisis (especially if athleticism or physical capability central to self-concept)
At Diagnosis: Complex Emotions

Relief and Validation:

  • ✅ "I'm not crazy—something WAS wrong"
  • ✅ Explanation for symptoms
  • ✅ Treatment options exist
  • ✅ A community of others with same condition
  • ✅ Can stop blaming yourself

But Also Fear and Uncertainty:

  • ❌ "What does this mean for my future?"
  • ❌ Genetic implications (family, children)
  • ❌ Will I be able to work, be active, live independently?
  • ❌ Financial concerns (treatment costs, insurance)
  • ❌ Learning about potential complications
  • ❌ Adjusting identity to include "chronic illness"

This is Normal:
The mix of relief and fear is universal. Give yourself permission to feel both.

Living with AATD: Ongoing Challenges

Chronic Disease Reality:

  • Uncertainty about disease progression
  • Managing symptoms daily
  • Treatment burdens (time, side effects, costs)
  • Lifestyle adjustments
  • Disclosure decisions (work, relationships, insurance)
  • Planning for an uncertain future
  • Balancing hope with realism

Additional Stressors:

  • Frequent medical appointments
  • Financial strain
  • Insurance battles
  • Workplace accommodations or disability
  • Impact on family and relationships
  • Social limitations (avoiding smoke, infections)
  • Existential questions ("Why me?")

Common Mental Health Conditions in AATD

Depression

Prevalence: Studies show 25-40% of people with chronic lung disease experience depression (higher than general population)

Signs and Symptoms:

  • Persistent sadness, emptiness, or hopelessness
  • Loss of interest in activities once enjoyed
  • Fatigue and decreased energy
  • Sleep disturbances (insomnia or oversleeping)
  • Appetite changes (weight loss or gain)
  • Difficulty concentrating or making decisions
  • Feelings of worthlessness or guilt
  • Thoughts of death or suicide

Why So Common in AATD:

  • Chronic illness burden
  • Physical limitations
  • Breathlessness itself is distressing
  • Loss of independence
  • Social isolation
  • Biological factors (inflammation, hypoxia affecting brain)
  • Uncertainty about future

Important: Depression is NOT weakness or giving up—it's a medical condition that deserves treatment.

Anxiety

Prevalence: 30-50% of people with COPD experience anxiety disorders

Manifestations:

  • Generalized worry about health, future, finances
  • Panic attacks (especially associated with breathlessness)
  • Health anxiety (hypervigilance about symptoms)
  • Social anxiety (avoiding situations due to breathlessness, oxygen use)
  • Anticipatory anxiety (fear of exacerbations, hospitalization)

The Breathlessness-Anxiety Cycle:

  1. Breathlessness triggers anxiety (feeling of suffocation, panic)
  2. Anxiety worsens breathlessness (rapid shallow breathing, muscle tension)
  3. Increased breathlessness escalates anxiety
  4. Cycle continues, spiraling

Breaking the Cycle:

  • Breathing techniques (pursed-lip breathing, diaphragmatic breathing)
  • Grounding exercises
  • Cognitive restructuring ("I've gotten through this before, I can get through it again")
  • Medication if needed (anti-anxiety medications, sometimes)
  • Addressing underlying breathlessness (optimize lung treatments)
Post-Traumatic Stress (PTSD)

Triggers in AATD:

  • Severe exacerbations requiring hospitalization
  • ICU stays, mechanical ventilation
  • Near-death experiences
  • Traumatic diagnostic process
  • Medical procedures

Symptoms:

  • Intrusive memories, flashbacks, nightmares
  • Avoidance of reminders (medical settings, triggers)
  • Negative thoughts and feelings
  • Hyperarousal (startle response, hypervigilance, difficulty sleeping)

Seek Help: PTSD is treatable with trauma-focused therapies (EMDR, prolonged exposure, CPT)

Adjustment Disorder

What It Is:
Difficulty adjusting to diagnosis, treatment changes, disease progression, or life changes related to AATD

Symptoms:

  • Emotional distress disproportionate to stressor
  • Difficulty functioning in daily life
  • Depression, anxiety, or behavioral changes
  • Usually improves within 6 months of stressor (with support)

Common Triggers:

  • New diagnosis
  • Starting augmentation therapy
  • Disease progression
  • Retirement due to illness
  • Need for oxygen therapy
  • Transplant evaluation
Complicated Grief

After Loss:

  • Loss of health, abilities, identity
  • Loss of future plans, dreams
  • Actual loss of loved ones (family members with AATD)

Healthy Grief vs. Complicated Grief:

  • Healthy grief: Sadness that gradually lessens, ability to find meaning, engage in life
  • Complicated grief: Persistent intense grief interfering with functioning, inability to accept loss

Support Helps: Grief counseling, support groups, time, self-compassion


The Physical Health Challenges of AATD

Beyond Lung and Liver: Systemic Effects

Fatigue

One of the Most Common and Debilitating Symptoms

Causes:

  • Hypoxia (low oxygen) affecting energy production
  • Increased work of breathing (exhausting)
  • Inflammation (cytokines causing fatigue)
  • Sleep disturbances
  • Deconditioning
  • Depression and anxiety
  • Medication side effects
  • Malnutrition (increased caloric needs with lung disease)

Impact:

  • Difficulty with daily activities
  • Inability to work full-time or at all
  • Social withdrawal (too tired to engage)
  • Frustration ("I used to be able to do so much")

Management Strategies:

  • Energy conservation techniques
  • Pacing (balance activity and rest)
  • Prioritize important activities
  • Optimize oxygenation (use prescribed oxygen)
  • Treat underlying causes (depression, sleep apnea, anemia)
  • Nutrition optimization
  • Gradual exercise (pulmonary rehab)
Dyspnea (Breathlessness)

The Most Frightening Symptom for Many

Characteristics:

  • Sensation of air hunger, can't get enough air
  • Worse with exertion
  • Can occur at rest in advanced disease
  • Unpredictable (good days and bad days)

Psychological Impact:

  • Anxiety and panic (especially if sudden)
  • Fear of suffocation
  • Avoidance of activities
  • Social isolation
  • Loss of independence

Management:

  • Optimal medical treatment (bronchodilators, augmentation therapy)
  • Breathing techniques
  • Pulmonary rehabilitation
  • Oxygen therapy if indicated
  • Fans, cool air (can reduce perception of breathlessness)
  • Relaxation and anxiety management
  • Opioids (in severe, refractory cases—under medical supervision)
Exercise Intolerance and Deconditioning

The Downward Spiral:

  1. Lung disease causes breathlessness with exertion
  2. Avoid activity due to breathlessness
  3. Muscles become deconditioned (weaker)
  4. Even less exertion causes more breathlessness
  5. Further avoidance, more deconditioning
  6. Cycle continues

Breaking the Cycle:

  • Pulmonary rehabilitation (supervised, safe exercise)
  • Start low, go slow (gradual progression)
  • Consistency more important than intensity
  • Strength training (improves muscle efficiency)
  • Balance and flexibility (prevent falls, maintain mobility)

Mark's Experience:
As an athlete, Mark's instinct was to push harder. But with AATD, the key is working smarter—pacing, using oxygen if needed, choosing appropriate exercises, and building endurance gradually without causing exacerbations.

Muscle Weakness and Wasting

Causes:

  • Deconditioning from inactivity
  • Systemic inflammation
  • Nutritional deficits
  • Hypoxia affecting muscle metabolism
  • Corticosteroid use (if applicable)
  • Aging

Impact:

  • Difficulty with stairs, standing from chair, carrying objects
  • Increased fall risk
  • Loss of independence
  • Further exercise intolerance

Prevention and Treatment:

  • Resistance/strength training (even light weights help)
  • Adequate protein intake
  • Vitamin D optimization
  • Balance exercises
  • Physical therapy if needed
Sleep Disturbances

Common Issues:

  • Insomnia (difficulty falling or staying asleep)
  • Sleep apnea (obstructive or central)
  • Nocturnal hypoxemia (low oxygen during sleep)
  • Nighttime cough, breathlessness
  • Anxiety-related sleep disruption
  • Medication side effects

Impact of Poor Sleep:

  • Worsens fatigue
  • Impairs cognition and mood
  • Increases inflammation
  • Reduces quality of life
  • May worsen lung disease outcomes

Solutions:

  • Sleep study if suspected apnea or nocturnal hypoxemia
  • CPAP or BiPAP if indicated
  • Supplemental oxygen during sleep if needed
  • Sleep hygiene practices
  • Address anxiety/depression
  • Medication review (timing, alternatives)
Pain

Sources in AATD:

  • Chest wall pain (from chronic cough, increased work of breathing)
  • Musculoskeletal pain (postural changes, deconditioning)
  • Arthritis or joint pain (if autoimmune component)
  • Liver pain (if liver disease)
  • Osteoporosis-related pain (fractures)
  • Headaches
  • Neuropathic pain (in some cases)

Impact:

  • Limits activity
  • Worsens mood and sleep
  • Reduces quality of life

Management:

  • Identify and treat underlying cause
  • Physical therapy
  • Pain medications (use cautiously—some affect breathing)
  • Non-pharmacologic approaches (heat, cold, TENS, acupuncture)
  • Mind-body techniques (meditation, yoga)
Nutritional Challenges

Why Nutrition Is Affected:

  • Increased energy expenditure (work of breathing)
  • Early satiety (from enlarged lungs compressing stomach)
  • Breathlessness while eating
  • Fatigue affecting meal preparation
  • Depression reducing appetite
  • Malabsorption (if liver disease)

Consequences:

  • Unintentional weight loss
  • Muscle wasting
  • Micronutrient deficiencies
  • Weakened immune system
  • Worse disease outcomes

Strategies:

  • Small, frequent meals (5-6 per day)
  • Nutrient-dense foods (high calories/protein in small volume)
  • Rest before meals (conserve energy)
  • Nutritional supplements if needed (shakes, smoothies)
  • Dietitian consultation
  • Address underlying barriers (depression, difficulty cooking)
Osteoporosis and Bone Health

Risk Factors in AATD:

  • Chronic inflammation
  • Reduced physical activity
  • Corticosteroid use
  • Vitamin D deficiency (common in chronic disease)
  • Smoking history
  • Malnutrition
  • Lung disease severity

Prevention:

  • Calcium and vitamin D supplementation
  • Weight-bearing exercise
  • Fall prevention
  • Bone density screening
  • Treatment if osteoporosis present (bisphosphonates, etc.)
Immune System Dysfunction

Why AATD Affects Immunity:

  • AAT has immune-modulating properties
  • Deficiency may increase susceptibility to infections
  • Lung damage creates vulnerability (infections harder to clear)
  • Chronic inflammation dysregulates immune system
  • May contribute to autoimmune diseases (152 identified by Mark Egly)

Prevention Strategies:

  • Vaccinations (flu, pneumonia, COVID, RSV, others as recommended)
  • Avoid sick contacts
  • Hand hygiene
  • Prompt treatment of infections
  • Optimize nutrition and sleep
  • Consider prophylactic antibiotics in some cases

Integrative Approach: Treating Mind AND Body

The Mind-Body Connection in AATD

Scientific Reality:

  • Mental health affects physical health (depression worsens disease outcomes)
  • Physical health affects mental health (breathlessness causes anxiety)
  • Treatment must address both simultaneously

Evidence:

  • Depression in COPD associated with:
    • More exacerbations
    • Longer hospital stays
    • Worse quality of life
    • Increased mortality
  • Treating depression improves physical outcomes
  • Exercise improves both physical capacity AND mental health
  • Stress management improves immune function and inflammation

The Foundation's Philosophy:
You cannot separate the mind from the body. Optimal care means treating the whole person.


Strategies for Mental Health Optimization

Professional Mental Health Treatment

When to Seek Help

Don't wait until crisis—early intervention is most effective.

Seek help if:

  • Persistent sadness or anxiety (>2 weeks)
  • Thoughts of harming yourself
  • Inability to function in daily life
  • Substance use to cope
  • Hopelessness about future
  • Panic attacks
  • Social withdrawal
  • Sleep or appetite significantly disrupted

Where to Start:

  • Primary care physician
  • Pulmonologist (can refer to mental health specialist)
  • Psychologist or psychiatrist
  • Licensed clinical social worker or counselor
  • Integrated care programs (some pulmonary clinics have mental health support)
Evidence-Based Therapies

Cognitive Behavioral Therapy (CBT):

  • Addresses negative thought patterns
  • Teaches coping skills
  • Changes behaviors that worsen symptoms
  • Strong evidence for depression, anxiety in chronic disease
  • Can be done individually or in groups
  • Usually 8-16 sessions

CBT Techniques Particularly Helpful in AATD:

  • Cognitive restructuring: Challenge catastrophic thoughts ("I can't breathe" → "I'm breathless but safe, I've managed this before")
  • Behavioral activation: Gradually increase pleasant activities despite fatigue/breathlessness
  • Exposure: Face feared situations (exercise, social activities) with support
  • Problem-solving: Break overwhelming problems into manageable steps

Acceptance and Commitment Therapy (ACT):

  • Accept what you can't change
  • Commit to actions aligned with values
  • Mindfulness-based
  • Strong evidence in chronic disease
  • Reduces psychological distress, improves quality of life

Mindfulness-Based Stress Reduction (MBSR):

  • 8-week program
  • Meditation, body awareness, yoga
  • Reduces stress, anxiety, depression
  • Improves pain management
  • Evidence in chronic lung disease

Interpersonal Therapy (IPT):

  • Focuses on relationships and life transitions
  • Helpful for depression related to illness adjustments
  • Addresses role changes, grief, interpersonal conflicts

Supportive Therapy:

  • Validation, encouragement, coping strategies
  • Sometimes what's needed most
Medications for Mental Health

Antidepressants:

  • SSRIs (Selective Serotonin Reuptake Inhibitors): Sertraline, escitalopram, fluoxetine
    • First-line for depression and anxiety
    • Generally well-tolerated
    • Take 4-6 weeks for full effect
  • SNRIs (Serotonin-Norepinephrine Reuptake Inhibitors): Venlafaxine, duloxetine
    • Also for depression and anxiety
    • May help chronic pain as well
  • Others: Bupropion (may help with smoking cessation too), mirtazapine (may help with appetite, sleep)

Anti-Anxiety Medications:

  • Benzodiazepines (Lorazepam, alprazolam, clonazepam)
    • Fast-acting for acute anxiety, panic
    • Short-term use (risk of dependence)
    • Can suppress breathing (use cautiously in lung disease)
  • Buspirone: Non-sedating, no breathing concerns, takes weeks to work
  • Hydroxyzine: Antihistamine with anti-anxiety effects, safer in lung disease

Other:

  • Beta-blockers (Propranolol): For performance anxiety, physical symptoms
  • Prazosin: For PTSD-related nightmares

Important Considerations:

  • Always discuss with healthcare team (medication interactions, breathing effects)
  • Finding the right medication may take time (trial and error)
  • Combination of medication + therapy often most effective
  • Not a sign of weakness—medications correct chemical imbalances

Self-Care Strategies

Stress Management

Why It Matters:

  • Stress worsens breathlessness
  • Increases inflammation
  • Impairs immune function
  • Worsens sleep
  • Triggers exacerbations

Techniques:

Deep Breathing:

  • Diaphragmatic breathing (belly breathing)
  • 4-7-8 breathing (inhale 4, hold 7, exhale 8)
  • Pursed-lip breathing (reduces breathlessness)
  • Practice daily, use during stress

Progressive Muscle Relaxation:

  • Systematically tense and relax muscle groups
  • Reduces physical tension
  • Calms nervous system

Mindfulness Meditation:

  • Focus on present moment without judgment
  • Notice breath, body sensations, thoughts
  • Reduces rumination and worry
  • Apps: Headspace, Calm, Insight Timer

Guided Imagery:

  • Visualize peaceful, safe place
  • Engage all senses
  • Creates physiological relaxation response

Yoga and Tai Chi:

  • Gentle movement with breath awareness
  • Improves flexibility, balance, strength
  • Reduces stress and anxiety
  • Many classes for chronic illness or modified versions
Social Connection

Why It's Vital:

  • Social isolation worsens depression and anxiety
  • Support improves coping and health outcomes
  • Sense of belonging and mattering
  • Practical help and information sharing

Strategies:

Stay Connected:

  • Regular contact with family and friends (in-person, phone, video)
  • Don't isolate even when fatigued or breathless
  • Ask for help when needed
  • Be honest about limitations but maintain relationships

Join Support Groups:

  • Alpha-1 support groups (in-person or online)
  • Share experiences, learn from others
  • Reduce sense of isolation
  • Practical tips and emotional validation
  • Mark Egly Foundation: Alpha1 Friend Network

Online Communities:

  • Facebook groups for AATD
  • Forums and discussion boards
  • Connect with people worldwide
  • Available 24/7

Peer Mentorship:

  • Connect one-on-one with someone further along in journey
  • Guidance, hope, practical advice
  • Mark Egly Foundation offers peer mentor matching

Volunteer or Give Back:

  • Helping others improves mood and purpose
  • Advocacy work for AATD awareness
  • Mentoring newly diagnosed
  • Fundraising for research
Meaningful Activities and Purpose

Why Purpose Matters:

  • Chronic illness can rob sense of purpose
  • Identity loss (career, roles, activities)
  • Existential crisis ("What's the point?")

Finding Meaning:

  • Identify values (what matters most?)
  • Engage in activities aligned with values (even modified)
  • Creative pursuits (art, music, writing)
  • Spiritual practices (if meaningful to you)
  • Legacy projects (sharing your story, helping others)
  • Learning new things (keeps brain engaged)
  • Time with loved ones (relationships as purpose)

Mark's Purpose:
After diagnosis, Mark channeled his experience into founding the Mark Egly Foundation—transforming personal struggle into a mission to help others. This created profound meaning and hope despite ongoing health challenges.

Your purpose doesn't have to be starting a foundation—it can be:

  • Being present for grandchildren
  • Creating art or music
  • Advocating for better care
  • Mentoring newly diagnosed
  • Maintaining relationships
  • Pursuing adapted hobbies
  • Simply living each day with intention and gratitude
Gratitude Practice

Evidence-Based Benefits:

  • Improves mood and life satisfaction
  • Reduces depression
  • Better sleep
  • Stronger immune function
  • Increased resilience

How to Practice:

  • Daily gratitude journal (3-5 things you're grateful for)
  • Gratitude meditation
  • Thank you notes to others
  • Bedtime reflection on day's positives
  • Gratitude jar (family activity)

Even With AATD:

  • Grateful for treatment options (augmentation therapy, medications)
  • Grateful for healthcare team
  • Grateful for supportive relationships
  • Grateful for functioning you still have
  • Grateful for research progress and hope

Gratitude doesn't deny struggle—it coexists with it.


Strategies for Physical Health Optimization

Exercise: The Most Powerful Medicine

Benefits of Exercise in AATD:

  • ✅ Improves exercise capacity and endurance
  • ✅ Reduces breathlessness
  • ✅ Strengthens muscles (including breathing muscles)
  • ✅ Improves cardiovascular health
  • ✅ Enhances mood and reduces depression/anxiety
  • ✅ Better sleep
  • ✅ Weight management
  • ✅ Bone health
  • ✅ Immune function
  • ✅ Quality of life
  • ✅ May reduce exacerbations and hospitalizations
  • ✅ Increases independence and functional capacity

Types of Exercise:

Aerobic/Cardiovascular
  • Walking (most accessible)
  • Cycling (stationary or outdoor)
  • Swimming (excellent—humid air, non-weight bearing)
  • Water aerobics
  • Dancing
  • Elliptical
  • Goal: 20-30 minutes most days, moderate intensity (can talk but not sing)
Strength/Resistance Training
  • Free weights, resistance bands, machines
  • Body weight exercises (modified push-ups, squats, planks)
  • Goal: 2-3 times per week, major muscle groups
  • Benefit: Improves muscle efficiency (more work with less oxygen needed)
Flexibility and Balance
  • Stretching routines
  • Yoga (gentle, adapted)
  • Tai Chi
  • Goal: Daily stretching, 2-3 times weekly focused flexibility/balance work
  • Benefit: Prevents falls, maintains mobility, reduces injury
Breathing Muscle Training
  • Inspiratory muscle training devices (Threshold IMT, etc.)
  • Strengthens diaphragm and breathing muscles
  • Reduces breathlessness, improves exercise tolerance
  • Evidence supports use in COPD/AATD

Exercise Guidelines for AATD

Getting Started:

  1. Talk to your doctor first (especially if new to exercise or have significant disease)
  2. Consider pulmonary rehabilitation (supervised, safe, education included)
  3. Start low, go slow (even 5 minutes daily is better than nothing)
  4. Listen to your body (differentiate good exertion from harmful overexertion)
  5. Use oxygen if prescribed (during exercise if needed)
  6. Warm up and cool down (prevents injury, allows heart rate adjustment)
  7. Find activities you enjoy (more likely to stick with it)
  8. Track progress (seeing improvement motivates)
  9. Be consistent (regular exercise better than sporadic intense sessions)
  10. Adjust as needed (good days and bad days—modify accordingly)

Warning Signs to Stop Exercise:

  • 🚨 Severe breathlessness (can't speak at all)
  • 🚨 Chest pain or pressure
  • 🚨 Dizziness or lightheadedness
  • 🚨 Irregular heartbeat
  • 🚨 Extreme fatigue
  • 🚨 Nausea
  • 🚨 Pale, cold, clammy skin

Rest and seek medical attention if these occur.

Overcoming Barriers:

"I'm too breathless to exercise":

  • Start with very short bouts (5 minutes or less)
  • Interval training (30 seconds activity, rest, repeat)
  • Use oxygen during exercise if prescribed
  • Pulmonary rehab helps you learn safe limits
  • Exercise actually reduces breathlessness over time

"I'm too tired":

  • Exercise increases energy long-term (though tiring initially)
  • Choose best time of day (morning if you're a morning person)
  • Start small (even 5 minutes helps)
  • Rest before exercise
  • Pacing (balance activity and rest throughout day)

"I'm afraid I'll make my condition worse":

  • Exercise is safe and beneficial when done appropriately
  • Pulmonary rehab provides supervision and education
  • Exacerbations are not caused by appropriate exercise
  • Benefits far outweigh risks

"I don't have time/money for gym":

  • Walk outside (free!)
  • Home exercise routines (YouTube videos, apps)
  • Resistance bands (inexpensive, portable)
  • Body weight exercises
  • Park, neighborhood, mall walking

Sleep Optimization

Sleep Hygiene Practices:

Consistent Schedule:

  • Same bedtime and wake time (even weekends)
  • Helps regulate circadian rhythm

Bedtime Routine:

  • Wind down 30-60 minutes before bed
  • Calming activities (reading, bath, gentle stretching)
  • Avoid screens (blue light disrupts sleep)

Sleep Environment:

  • Dark, quiet, cool room (60-67°F ideal)
  • Comfortable mattress and pillows
  • Elevate head if breathlessness or reflux
  • White noise machine if needed

Daytime Habits:

  • Limit naps (30 minutes max, before 3pm)
  • Exercise daily (but not within 3 hours of bedtime)
  • Get sunlight exposure during day
  • Limit caffeine (none after 2pm)
  • Avoid large meals, alcohol before bed

If Can't Sleep:

  • Don't lie awake >20 minutes
  • Get up, do calm activity
  • Return when sleepy
  • Don't watch clock (creates anxiety)

Address Underlying Issues:

  • Sleep study if snoring, witnessed apneas, unrefreshing sleep
  • Treat nocturnal hypoxemia (oxygen)
  • CPAP if sleep apnea
  • Anxiety/depression treatment
  • Pain management
  • Medication review (timing, alternatives)

Nutrition for Wellness

Key Principles:

Adequate Calories:

  • COPD increases calorie needs (work of breathing)
  • Unintentional weight loss worsens outcomes
  • Some need 1.5x normal caloric intake
  • If underweight: frequent small meals, calorie-dense foods

Sufficient Protein:

  • Maintain muscle mass
  • Immune function
  • Healing
  • Goal: 1.2-1.5 g/kg body weight daily
  • Lean meats, fish, eggs, dairy, beans, nuts

Anti-Inflammatory Diet:

  • Fruits and vegetables (variety of colors)
  • Whole grains
  • Fatty fish (omega-3s)
  • Nuts and seeds
  • Olive oil
  • Limit processed foods, red meat, sugar

Hydration:

  • 8+ glasses daily (unless fluid restricted)
  • Thins mucus
  • Prevents dehydration
  • Warm beverages soothing

Small Frequent Meals:

  • Reduces bloating and breathlessness
  • More manageable when fatigued
  • Maintains energy levels

Specific Nutrients:

  • Vitamin D: Immune function, bone health (supplement if deficient)
  • Calcium: Bone health (dairy, fortified foods, supplements)
  • Antioxidants: Vitamins C, E, beta-carotene (from food sources)
  • Iron: If anemic (absorption enhanced by vitamin C)
  • Magnesium: Lung function, inflammation (nuts, seeds, greens)

Avoid:

  • Excessive salt (fluid retention, bloating)
  • Sulfites (in dried fruits, wine—may trigger breathlessness)
  • Gas-producing foods if bloating problematic (beans, carbonated drinks, cruciferous vegetables)

Smoking Cessation (If Applicable)

Absolutely Essential:

  • Smoking accelerates AATD lung damage exponentially
  • #1 most important thing you can do for health
  • Quitting improves outcomes at any stage

Resources:

  • Quitlines (1-800-QUIT-NOW)
  • Medications (nicotine replacement, varenicline, bupropion)
  • Counseling (individual or group)
  • Apps and online programs
  • Healthcare team support

It's Never Too Late:
Even with advanced disease, quitting improves breathing, reduces exacerbations, slows progression.

Avoid Environmental Exposures

Protect Your Lungs:

  • ❌ Secondhand smoke (avoid completely)
  • ❌ Air pollution (check air quality index, stay indoors on bad days)
  • ❌ Occupational exposures (dust, fumes, chemicals—consider job modifications or change)
  • ❌ Wood smoke, fireplaces, incense, candles (irritants)
  • ❌ Strong fragrances, cleaning products (choose unscented, natural)
  • ❌ Mold (address water damage, use dehumidifiers)
  • ⚠️ Cold air (wear scarf over nose/mouth, pre-treat with bronchodilator)

Indoor Air Quality:

  • HEPA air purifiers
  • Regular HVAC filter changes
  • Proper ventilation
  • Humidity control (30-50%)
  • No smoking indoors

Vaccinations and Infection Prevention

Recommended Vaccines:

  • ✅ Influenza (annual)
  • ✅ Pneumococcal (PCV20, PPSV23 per guidelines)
  • ✅ COVID-19 (initial series + boosters as recommended)
  • ✅ RSV (if age 60+, or possibly earlier in AATD—discuss with doctor)
  • ✅ Tdap (tetanus/diphtheria/pertussis)
  • ✅ Shingles (age 50+)
  • ✅ Hepatitis A & B (if liver disease or not previously vaccinated)

Infection Prevention:

  • Hand washing (frequently, thoroughly)
  • Avoid sick contacts
  • Avoid crowds during peak illness seasons (if high risk)
  • Masks in healthcare settings, crowded indoor spaces when illness circulating
  • Prompt treatment if infections develop
  • Consider prophylactic antibiotics in some cases (discuss with doctor)

Special Populations and Considerations

Athletes with AATD (Like Mark)

The Unique Challenges:

  • Athletic identity central to self-concept
  • High baseline fitness makes decline more noticeable
  • Difficulty accepting limitations
  • Temptation to push through symptoms (dangerous)
  • Pressure from self, coaches, teammates

Adaptations:

  • Modify sport/activities as needed
  • Focus on technique over brute force
  • Optimize rest and recovery
  • Use oxygen if needed during training
  • Regular monitoring (pulmonary function)
  • Work with medical team familiar with athletes
  • Mental health support for identity adjustment
  • Find new athletic pursuits if necessary (golf → cycling, swimming, etc.)

Mark's Wisdom:
"Training harder when you have undiagnosed AATD doesn't make you stronger—it accelerates damage. Once diagnosed, training smarter with the right support can help you maintain athletic pursuits safely."

Young Adults with AATD

Specific Issues:

  • Diagnosis often during college, early career
  • Life planning uncertainties (career, family, etc.)
  • Dating and disclosure
  • Peer relationships (feeling different)
  • Genetic counseling (family planning)
  • Insurance and employment
  • Financial independence challenging with medical costs
  • Balancing treatment with school, work, social life

Support:

  • Connect with other young adults with AATD
  • Genetic counseling (reproductive options)
  • Career counseling (choose fields accommodating)
  • Mental health support for life transitions
  • AlphaNet and Foundation resources

Parents of Children with AATD

Unique Stressors:

  • Worry about child's future
  • Guilt (genetic transmission)
  • Advocacy in schools, medical settings
  • Balancing protection with normal childhood
  • Genetic testing decisions for other children
  • Sibling impacts
  • Financial strain
  • Caregiver burden

Support:

  • Parent support groups
  • Family therapy
  • Respite care
  • School accommodations (504 plans, IEPs if needed)
  • Genetic counseling
  • Child life specialists
  • Mark Egly Foundation family resources

Caregivers and Family Members

The Invisible Patients:

  • Caregiver stress, burden, burnout
  • Own health neglected
  • Financial and practical challenges
  • Emotional toll (watching loved one suffer)
  • Relationship changes
  • Social isolation

Self-Care for Caregivers:

  • Respite care (take breaks)
  • Support groups for caregivers
  • Therapy/counseling
  • Maintain own health (exercise, sleep, nutrition, medical care)
  • Accept help from others
  • Set boundaries
  • Recognize limitations

Caregiver Support Resources:

  • Family Caregiver Alliance
  • Respite care programs
  • Local support services
  • Mark Egly Foundation caregiver resources

Building Resilience

What is Resilience?

Resilience = ability to adapt well in the face of adversity, bounce back from difficulties, maintain well-being despite challenges

Not:

  • Being unaffected by hardship
  • Never feeling sadness, fear, or anger
  • "Toughing it out" alone

Is:

  • Adapting and coping effectively
  • Using resources and support
  • Finding meaning and growth
  • Maintaining hope

Factors That Build Resilience

Internal:

  • ✅ Positive outlook (realistic optimism)
  • ✅ Problem-solving skills
  • ✅ Emotional regulation
  • ✅ Self-compassion
  • ✅ Flexibility and adaptability
  • ✅ Sense of purpose
  • ✅ Self-efficacy (belief in your ability to cope)

External:

  • ✅ Social support (family, friends, community)
  • ✅ Access to resources (medical, financial, practical)
  • ✅ Stable living situation
  • ✅ Role models (others who have thrived with AATD)

Behaviors:

  • ✅ Active coping (problem-solving, seeking help)
  • ✅ Self-care (exercise, sleep, nutrition, stress management)
  • ✅ Maintaining relationships
  • ✅ Engaging in meaningful activities
  • ✅ Accepting what can't be changed, changing what can

Growing Through Adversity (Post-Traumatic Growth)

Some People Report Positive Changes After Trauma/Illness:

Possible Growth:

  • Deeper appreciation for life
  • Closer relationships
  • Greater compassion for others
  • Clearer priorities and values
  • Spiritual growth
  • Recognition of personal strength
  • New possibilities and paths

This Doesn't Mean:

  • Glad the illness happened
  • Not struggling
  • Toxic positivity ("just think positive!")

It Means:

  • Finding some good alongside the hard
  • Using experience to create meaning
  • Transforming pain into purpose (like Mark founding the Foundation)

The Mark Egly Foundation's Vision for Mental & Physical Health

Our Commitments

We believe:

  • Mental and physical health are inseparable
  • Treating disease requires treating the whole person
  • Early diagnosis prevents years of psychological and physical suffering
  • Support should be available at every stage of the journey
  • Community and connection are essential
  • Hope and quality of life are always possible

We provide:

1. Early Diagnosis Initiatives

  • Screening programs
  • Physician education
  • Diagnostic support
  • Ending the diagnostic odyssey that causes years of psychological harm

2. Comprehensive Wellness Support

  • Alpha1 360° Program: Holistic care addressing medical, mental, social, and practical needs
  • Ask the MD: Expert medical guidance
  • Alpha1 Friend Network: Peer support reducing isolation
  • Exercise and nutrition resources
  • Mental health resource connections

3. Education and Empowerment

  • Webinars on mental health topics
  • Guides for physical health optimization
  • Evidence-based information
  • Self-management tools

4. Advocacy

  • For integrated mental and physical health care
  • Insurance coverage for mental health services
  • Pulmonary rehabilitation access
  • Comprehensive support programs

5. Research Support

  • Studies on mental health interventions in AATD
  • Quality of life outcomes
  • Optimal treatment approaches for whole-person wellness

Resources for Mental & Physical Health

Mental Health Resources

Crisis Support:

  • National Suicide Prevention Lifeline: 988 (call or text)
  • Crisis Text Line: Text HOME to 741741
  • Emergency: 911 or go to nearest ER

Mental Health Treatment Locators:

  • Psychology Today Therapist Finder: psychologytoday.com
  • SAMHSA Treatment Locator: findtreatment.gov
  • National Alliance on Mental Illness (NAMI): nami.org

AATD-Specific:

  • Mark Egly Foundation: markeglyfoundation.org
    • Ask the MD
    • Alpha1 Friend Network
    • Support resources
  • Alpha-1 Foundation: alpha1.org (support groups, resources)
  • AlphaNet: alphanet.org (case management, education)

Apps:

  • Headspace, Calm (meditation)
  • CBT-i Coach (sleep)
  • PTSD Coach
  • Breathe2Relax (breathing exercises)

Physical Health Resources

Pulmonary Rehabilitation Locator:

  • Ask your pulmonologist for referral
  • AACVPR directory: aacvpr.org

Exercise Resources:

  • American Lung Association: Better Breathers Clubs, exercise guides
  • YouTube: "Pulmonary rehabilitation exercises," "COPD exercises"
  • Local senior centers (often have appropriate classes)

Nutrition:

  • Registered dietitian referral
  • Academy of Nutrition and Dietetics: eatright.org

Sleep:

  • National Sleep Foundation: sleepfoundation.org
  • Sleep study referral from doctor

Take Control of Your Mental & Physical Health

You Have More Power Than You Think:

Even with a chronic disease you didn't choose, you can:

  • ✅ Choose to seek treatment for depression and anxiety
  • ✅ Choose to exercise regularly within your abilities
  • ✅ Choose to connect with supportive people
  • ✅ Choose to eat nourishing foods
  • ✅ Choose to practice stress management
  • ✅ Choose to find purpose and meaning
  • ✅ Choose to be kind to yourself
  • ✅ Choose hope

Progress, Not Perfection:

  • Some days you'll thrive, some days you'll survive—both are okay
  • Small steps add up over time
  • Setbacks are part of the journey
  • Self-compassion is essential
  • You don't have to do it alone

Mark's Message:
"For ten years, I blamed myself for symptoms caused by an undiagnosed disease. Once diagnosed, I learned that while I can't control having AATD, I can control how I respond to it. I can optimize my physical health through treatment, exercise, and self-care. I can protect my mental health through support, purpose, and resilience. And I can use my experience to help others avoid the suffering I endured. You have that same power. Use it."


Connect with Us

Need Support for Mental or Physical Health?

Mark Egly Foundation:

  • 🌐 Website: markeglyfoundation.org/mental-physical-health
  • 📞 Phone: 1-800-MARK-EGLY
  • ✉️ Email: wellness@markeglyfoundation.org
  • 💬 Alpha1 Friend Network: Connect with peers facing similar challenges
  • 🩺 Ask the MD: Get expert guidance on managing mental and physical health with AATD
  • 📚 Resource Library: Downloadable guides, webinar recordings, tools

Remember: You Are Not Alone. Help Is Available. Hope Is Real.


Your mental health matters as much as your lung function. Your quality of life matters as much as your survival. You matter—all of you, not just your diagnosis.

Let's optimize mental AND physical health together.


Last Updated: December 2025
This information is for educational purposes and should not replace consultation with your healthcare providers or mental health professionals.