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Ask the MD

🤰 Pregnancy & Family Planning

  • Pregnancy safety with AATD
  • AAT therapy during pregnancy and breastfeeding
  • Partner testing before conception
  • Prenatal testing options
  • Delivery considerations
  • Postpartum monitoring
  • Managing AATD while caring for a newborn
  • Genetic counseling for family planning

🧘 Lifestyle & Wellness

  • Optimal diet for AATD
  • Exercise recommendations and limitations
  • Stress management
  • Sleep optimization
  • Environmental factors (air quality, pollution, altitude)
  • Travel considerations
  • Occupational exposures to avoid
  • Smoking cessation (if applicable)
  • Alcohol consumption guidelines
  • Nutritional supplements

🧠 Mental Health

  • Coping with chronic illness
  • Anxiety and depression in AATD
  • Finding mental health providers who understand chronic illness
  • Medication considerations (interactions, respiratory effects)
  • Stress impact on AATD
  • Building resilience
  • Grief and loss associated with diagnosis
  • Relationship impacts

👨‍👩‍👧‍👦 Family & Genetics

  • Who should be tested in my family?
  • How to approach family members about testing
  • Explaining inheritance patterns
  • Carrier status—what does it mean?
  • Genetic discrimination concerns
  • Life insurance and genetic testing
  • Testing children—when and why

💼 Insurance & Access

  • Getting AAT therapy approved
  • Appealing insurance denials
  • Disability determination
  • Medicare/Medicaid coverage
  • Prior authorization strategies
  • Patient assistance programs
  • Clinical trial access
  • International treatment options

📊 Research & Clinical Trials

  • Current research on AATD
  • Clinical trial opportunities
  • Experimental therapies
  • Gene therapy prospects
  • Novel treatment approaches
  • Contributing to research
  • Understanding study results

Common Questions Already Answered

Browse Our Q&A Library

Popular Questions Include:

"I have normal lung function. Should I still consider AAT augmentation therapy?"

Answer by Dr. [Pulmonologist Name]: "The traditional approach has been to wait until FEV1 declines below 60% predicted. However, emerging evidence and Mark Egly's research suggest that preventive therapy before organ damage may be beneficial, especially for individuals with..."

[Full answer on website]

"Could my rheumatoid arthritis be related to my AATD?"

Answer by Dr. [Rheumatologist Name]: "Yes, there is growing evidence linking AATD to autoimmune conditions including rheumatoid arthritis. The mechanism involves protease imbalance leading to chronic inflammation and dysregulated immune responses..."

[Full answer on website]

"My doctor says I'm too young to worry about AATD complications. I'm 25. Is that right?"

Answer by Dr. [AATD Specialist Name]: "Absolutely not. Age at diagnosis is critical. Tissue damage from protease imbalance can begin in childhood. The earlier we identify and address AATD, the more we can prevent..."

[Full answer on website]

"Is there a connection between AATD and Alzheimer's disease in my family?"

Answer by Dr. [Neurologist Name]: "Yes, there is compelling research showing connections between AATD and Alzheimer's disease. 97 published studies have explored this link. The mechanism involves neuroinflammation..."

[Full answer on website]

[View 500+ Answered Questions on Website]


For Healthcare Providers: Professional Education

Physician Resources Through Ask the MD

CME-Accredited Programming:

  • Monthly webinars on AATD topics (1 CME credit each)
  • Annual comprehensive AATD course (20+ CME credits)
  • Specialty-specific modules
  • Case-based learning
  • Board certification preparation content

Clinical Resources:

  • Diagnostic algorithms
  • Treatment protocols
  • Patient education materials (to share with patients)
  • Literature reviews and evidence summaries
  • Consultation request forms
  • Referral networks

Peer Learning:

  • Physician discussion forums
  • Case consultations with AATD experts
  • Multi-specialty conferences
  • Research collaboration opportunities
  • Publication support

Practice Tools:

  • EHR integration guides for AATD screening prompts
  • Patient handouts and educational materials
  • Insurance authorization letter templates
  • Clinical pathway templates
  • Quality metrics for AATD care

Becoming an Ask the MD Advisor Specialist

Are You a Physician Interested in Joining Our Advisory Board?

We're Actively Seeking Medical Professionals Who:

  • ✓ Have expertise in specialties relevant to AATD
  • ✓ Are interested in learning about AATD's systemic effects
  • ✓ Want to contribute to improving AATD patient care
  • ✓ Can commit time to patient Q&A sessions or consultations
  • ✓ Are passionate about medical education
  • ✓ Value patient perspectives and experiences
  • ✓ Want to be part of changing standards of care

Specialties We Particularly Need:

  • Primary care (family medicine, internal medicine, pediatrics)
  • Pulmonology
  • Hepatology
  • Rheumatology
  • Neurology
  • Oncology
  • Gastroenterology
  • Cardiology
  • Dermatology
  • Nephrology
  • Endocrinology
  • Genetics/Genetic Counseling
  • Psychiatry
  • And ALL other specialties—AATD affects every system!

What's Involved:

  • Participation in 1-2 Ask the MD sessions per year (or more if interested)
  • Answering written questions in your area of expertise (quarterly)
  • Optional: Serving as consultant for patient cases
  • Optional: Contributing to research initiatives
  • Optional: Participating in physician education programs

Benefits of Joining:

  • Cutting-edge AATD education and research updates
  • Professional networking with leaders in AATD care
  • CME credits for participation
  • Recognition as AATD expert in your specialty
  • Patient referrals (if accepting new patients)
  • Home vs. clinic infusions
  • Managing infusion side effects
  • Travel with AAT therapy
  • Alternative AAT production methods (gene therapy, etc.)
  • Complementary and alternative therapies
  • Medication interactions
  • Treatment goals and monitoring

🫀 Liver Health

  • Understanding liver function tests
  • When to worry about liver involvement
  • Cirrhosis prevention
  • Liver transplant evaluation
  • Pediatric liver disease in AATD
  • Alcohol and liver health with AATD
  • Dietary strategies for liver protection
  • Managing portal hypertension
  • Hepatocellular carcinoma screening

🔥 Autoimmune Connections

  • Which autoimmune conditions are linked to AATD?
  • Should I be screened for the 152 autoimmune diseases?
  • Managing multiple autoimmune conditions simultaneously
  • Immunosuppressive therapy considerations with AATD
  • Inflammation markers and what they mean
  • Preventing autoimmune disease development
  • Distinguishing AATD symptoms from autoimmune symptoms

🧠 Neurological Concerns

  • Alzheimer's risk and prevention strategies
  • Cognitive symptoms—are they related to AATD?
  • Demyelinating diseases and AAT
  • Neuroprotective approaches
  • MS and AATD connections
  • ALS considerations
  • Parkinson's disease links
  • Mental fog and concentration issues

🎗️ Cancer Concerns

  • Cancer risk in AATD—what's the evidence?
  • Screening recommendations beyond standard guidelines
  • Prevention strategies
  • AAT therapy and cancer
  • Managing cancer treatment with AATD
  • Metastasis prevention
  • Immune surveillance optimization

👶 Pediatric AATD

  • Newborn diagnosis—what now?
  • When to start monitoring and treatment
  • Growth and development concerns
  • School accommodations
  • Sports participation
  • Explaining AATD to children
  • Transition to adult care
  • Genetic testing of siblings

🤰 Pregnancy & Family Planning

  • Pregnancy safety with AATD
  • AAT therapy during pregnancy and breastfeeding
  • Partner testing before conception
  • Prenatal testing options
  • Delivery considerations
  • Postpartum monitoring
  • Managing AATD while caring for a newborn
  • Genetic counseling for family planning

🧘 Lifestyle & Wellness

  • Optimal diet for AATD
  • Exercise recommendations and limitations
  • Stress management
  • Sleep optimization
  • Environmental factors (air quality, pollution, altitude)
  • Travel considerations
  • Occupational exposures to avoid
  • Smoking cessation (if applicable)
  • Alcohol consumption guidelines
  • Nutritional supplements

🧠 Mental Health

  • Coping with chronic illness
  • Anxiety and depression in AATD
  • Finding mental health providers who understand chronic illness
  • Medication considerations (interactions, respiratory effects)
  • Stress impact on AATD
  • Building resilience
  • Grief and loss associated with diagnosis
  • Relationship impacts

👨‍👩‍👧‍👦 Family & Genetics

  • Who should be tested in my family?
  • How to approach family members about testing
  • Explaining inheritance patterns
  • Carrier status—what does it mean?
  • Genetic discrimination concerns
  • Life insurance and genetic testing
  • Testing children—when and why

💼 Insurance & Access

  • Getting AAT therapy approved
  • Appealing insurance denials
  • Disability determination
  • Medicare/Medicaid coverage
  • Prior authorization strategies
  • Patient assistance programs
  • Clinical trial access
  • International treatment options

📊 Research & Clinical Trials

  • Current research on AATD
  • Clinical trial opportunities
  • Experimental therapies
  • Gene therapy prospects
  • Novel treatment approaches
  • Contributing to research
  • Understanding study results

Common Questions Already Answered

Browse Our Q&A Library

Popular Questions Include:

"I have normal lung function. Should I still consider AAT augmentation therapy?"

Answer by Dr. [Pulmonologist Name]: "The traditional approach has been to wait until FEV1 declines below 60% predicted. However, emerging evidence and Mark Egly's research suggest that preventive therapy before organ damage may be beneficial, especially for individuals with..."

[Full answer on website]

"Could my rheumatoid arthritis be related to my AATD?"

Answer by Dr. [Rheumatologist Name]: "Yes, there is growing evidence linking AATD to autoimmune conditions including rheumatoid arthritis. The mechanism involves protease imbalance leading to chronic inflammation and dysregulated immune responses..."

[Full answer on website]

"My doctor says I'm too young to worry about AATD complications. I'm 25. Is that right?"

Answer by Dr. [AATD Specialist Name]: "Absolutely not. Age at diagnosis is critical. Tissue damage from protease imbalance can begin in childhood. The earlier we identify and address AATD, the more we can prevent..."

[Full answer on website]

"Is there a connection between AATD and Alzheimer's disease in my family?"

Answer by Dr. [Neurologist Name]: "Yes, there is compelling research showing connections between AATD and Alzheimer's disease. 97 published studies have explored this link. The mechanism involves neuroinflammation..."

[Full answer on website]

[View 500+ Answered Questions on Website]


For Healthcare Providers: Professional Education

Physician Resources Through Ask the MD

CME-Accredited Programming:

  • Monthly webinars on AATD topics (1 CME credit each)
  • Annual comprehensive AATD course (20+ CME credits)
  • Specialty-specific modules
  • Case-based learning
  • Board certification preparation content

Clinical Resources:

  • Diagnostic algorithms
  • Treatment protocols
  • Patient education materials (to share with patients)
  • Literature reviews and evidence summaries
  • Consultation request forms
  • Referral networks

Peer Learning:

  • Physician discussion forums
  • Case consultations with AATD experts
  • Multi-specialty conferences
  • Research collaboration opportunities
  • Publication support

Practice Tools:

  • EHR integration guides for AATD screening prompts
  • Patient handouts and educational materials
  • Insurance authorization letter templates
  • Clinical pathway templates
  • Quality metrics for AATD care

Becoming an Ask the MD Advisor Specialist

Are You a Physician Interested in Joining Our Advisory Board?

We're Actively Seeking Medical Professionals Who:

  • ✓ Have expertise in specialties relevant to AATD
  • ✓ Are interested in learning about AATD's systemic effects
  • ✓ Want to contribute to improving AATD patient care
  • ✓ Can commit time to patient Q&A sessions or consultations
  • ✓ Are passionate about medical education
  • ✓ Value patient perspectives and experiences
  • ✓ Want to be part of changing standards of care

Specialties We Particularly Need:

  • Primary care (family medicine, internal medicine, pediatrics)
  • Pulmonology
  • Hepatology
  • Rheumatology
  • Neurology
  • Oncology
  • Gastroenterology
  • Cardiology
  • Dermatology
  • Nephrology
  • Endocrinology
  • Genetics/Genetic Counseling
  • Psychiatry
  • And ALL other specialties—AATD affects every system!

What's Involved:

  • Participation in 1-2 Ask the MD sessions per year (or more if interested)
  • Answering written questions in your area of expertise (quarterly)
  • Optional: Serving as consultant for patient cases
  • Optional: Contributing to research initiatives
  • Optional: Participating in physician education programs

Benefits of Joining:

  • Cutting-edge AATD education and research updates
  • Professional networking with leaders in AATD care
  • CME credits for participation
  • Recognition as AATD expert in your specialty
  • Patient referrals (if accepting new patients)
  • Research collaboration opportunities
  • Publication opportunities
  • Making a profound difference in patient outcomes

To Apply: Contact medicaladvisors@markeglyfoundation.org


The Impact of Ask the MD

Real Stories of Lives Changed

From a Patient:

"I had been declining for two years and no one could tell me why. My AATD diagnosis came but my doctors didn't know what to do with it. Through Ask the MD, I connected with a pulmonologist who actually understands AATD comprehensively. He evaluated me for augmentation therapy even though my lung function was 'normal' by traditional standards. Six months into treatment, I feel like a different person. Ask the MD literally gave me my life back." — Robert, 47, ZZ

From a Physician:

"I'm a rheumatologist and I had never considered the connection between AATD and the autoimmune conditions I treat daily. After participating in an Ask the MD session, I started screening my autoimmune patients. I've now identified six patients with AATD who had never been diagnosed. This knowledge is transforming how I practice. I'm grateful to be part of educating both patients and fellow physicians." — Dr. Chen, Rheumatology

From a Family Member:

"My mother has AATD and I didn't know if I should get tested. The genetic counselor on Ask the MD answered my question thoroughly, helped me understand my risk, and guided me through the testing process. I tested positive for one abnormal allele. Now I'm monitoring and can make informed health decisions. Knowledge is power." — Maria, 34, MZ carrier


The Future of Ask the MD

Expanding Access and Impact

Coming Soon:

2026:

  • ✅ Mobile app integration (ask questions from your phone anytime)
  • ✅ AI-powered question routing to appropriate specialists
  • ✅ Expanded language options (Spanish, French, German, Mandarin, etc.)
  • ✅ Virtual clinic hours with live chat
  • ✅ Video consultations for complex cases

2027-2028:

  • ✅ Integration with electronic health records (with patient permission)
  • ✅ Regional Ask the MD events in cities worldwide
  • ✅ Pediatric-specific Ask the MD programming
  • ✅ Specialty microsites (Ask the Pulmonologist, Ask the Hepatologist, etc.)
  • ✅ Podcast series with deep-dive medical discussions

2029+:

  • ✅ Virtual reality medical education experiences
  • ✅ Predictive health modeling based on AATD genotype and risk factors
  • ✅ Personalized treatment algorithms
  • ✅ Global telemedicine network of AATD specialists
  • ✅ Whatever innovation best serves patients and providers

Education Cannot Come Fast Enough

The Urgency of Medical Education in AATD

The Reality:

  • Millions of people have undiagnosed AATD
  • Most physicians don't know about systemic manifestations
  • Current medical education is years behind research
  • Patients are suffering preventable complications
  • Lives are being lost unnecessarily

The Solution:

  • Rapid dissemination of new knowledge through programs like Ask the MD
  • Direct physician-to-patient and physician-to-physician education
  • Real-time updates as research emerges
  • Collaborative learning across specialties
  • Empowered patients asking informed questions

Every Educated Physician Can Save Dozens of Lives

When a primary care doctor learns to screen for AATD in autoimmune patients, they may identify multiple undiagnosed individuals over their career.

When a pulmonologist understands the benefit of early AAT therapy, they may prevent lung damage in scores of patients.

When a neurologist recognizes the Alzheimer's-AATD connection, they may help families prevent cognitive decline through earlier intervention.

Ask the MD accelerates this education process exponentially.


Get Your Questions Answered

Multiple Ways to Participate

📅 Attend Live Q&A Sessions

  • First Thursday of each month, 7pm ET
  • Register at markeglyfoundation.org/events
  • Submit questions in advance or ask live
  • Free to attend, recordings available

💬 Submit Written Questions

  • Visit markeglyfoundation.org/ask-the-md
  • Fill out simple question form
  • Answered within 2 weeks
  • Published for community benefit (anonymously if preferred)

📚 Browse Q&A Database

  • 500+ questions already answered
  • Searchable by topic, specialty, keyword
  • Evidence-based, expert-reviewed answers
  • Updated regularly with new submissions

👥 Join Expert Panel Events

  • Quarterly deep-dive sessions
  • Multiple experts, comprehensive coverage
  • Live audience Q&A
  • Practical, actionable information

📞 Request Consultation Facilitation

  • For complex cases needing individual attention
  • Contact: consultations@markeglyfoundation.org
  • We'll help connect you with appropriate specialists

🩺 Healthcare Providers: Join Our Network

  • Access CME programming
  • Physician-to-physician consultations
  • Become an advisor specialist
  • Contact: medicaladvisors@markeglyfoundation.org

Questions Welcome, Judgment-Free

No Question is Too Basic or Too Complex

We believe:

  • There are no "stupid questions"
  • If you're wondering, others are too
  • Asking questions is a sign of strength, not weakness
  • Everyone deserves clear, compassionate answers
  • Medical knowledge should be accessible to all

Whether you're wondering:

  • "What even is Alpha-1 Antitrypsin?"
  • "Should I get a second opinion on my complex multi-system disease?"
  • "Can I still play sports with AATD?"
  • "What are the latest gene therapy developments?"

Ask. We're here to answer.


Join the Conversation

Your Questions Help Everyone

When you ask a question through Ask the MD:

  • ✅ You get expert guidance for your situation
  • ✅ Your question (and answer) helps others with similar concerns
  • ✅ You contribute to the collective knowledge base
  • ✅ You help identify gaps in current understanding
  • ✅ You remind physicians what patients really need to know

Your curiosity advances AATD education for everyone.


Contact Ask the MD

🌐 Website: markeglyfoundation.org/ask-the-md

✉️ General Questions: askthemd@markeglyfoundation.org

👨‍⚕️ Physician Inquiries: medicaladvisors@markeglyfoundation.org

📞 Phone: 1-800-ASK-ALPHA

💬 Live Chat: Available on website M-F, 9am-5pm ET


A Message About Medical Advice

Important Disclaimer:

Ask the MD provides educational information and general guidance, not individual medical advice. The information shared through our program should not replace consultation with your personal healthcare providers who know your specific medical history and situation.

Always:

  • ✅ Consult your own physicians before making treatment decisions
  • ✅ Share information you learn with your care team
  • ✅ Consider Ask the MD as a complement to, not replacement for, regular medical care
  • ✅ Seek emergency medical attention for urgent concerns

Our goal is to empower you with knowledge so you can have informed conversations with your healthcare team and advocate effectively for your needs.


The Promise of Ask the MD

No matter where you are, no matter what questions you have, no matter how complex your situation—expert guidance is available.

You don't have to navigate AATD alone. You don't have to accept "I don't know" without exploring further. You don't have to feel lost and overwhelmed.

The medical expertise you need to thrive with AATD is just a question away.


Previously, specialists were unaware of AATD's full impact. Now, through programs like Ask the MD, knowledge is spreading rapidly.

Education cannot come fast enough—but we're accelerating it every day, one question at a time.

What do you want to know? Ask the MD.


Your question could be the one that changes everything—for you, and for countless others who will benefit from the answer.

Ask today.