The transition from pediatric to adult care is one of the most important — and often most under-prepared-for — moments in Alström care. This workbook walks teens and parents through it across three to five years, breaking the work into stages and concrete actions.
The workbook is designed for the affected adolescent to gradually take ownership. By the end, the teen has the knowledge, skills, and team to manage their own adult Alström care.
Who this workbook is for
- Adolescents (around age 14 onward) with Alström Syndrome
- Parents of those adolescents
- Care coordinators supporting transition
- Adult specialists receiving newly-transitioned patients
The pace is flexible. Most families spread this over 3–5 years. Some compress it; some extend it.
The phases of transition
PHASE 1 — Awareness (~age 14) Understanding own condition, observing care PHASE 2 — Engagement (~age 15-16) Active participation in care PHASE 3 — Skill-building (~age 16-17) Self-management practice PHASE 4 — Transfer (~age 17-19) Moving to adult specialists PHASE 5 — Adult ownership (~age 18-21+) Full self-management with appropriate support
These ages are approximate. Individual readiness varies based on cognitive, emotional, and medical situation.
PHASE 1 — Awareness (around age 14)
Goals
- Understand the basics of your own condition
- Begin participating in your own appointments
- Connect with other young people with similar experiences
Skills to build
Knowing your condition:
- ☐ Can name your condition (Alström Syndrome)
- ☐ Know it's caused by changes in the ALMS1 gene
- ☐ Understand it's inherited from both parents
- ☐ Know it affects multiple body systems
- ☐ Can name your specific medical features
Knowing your care team:
- ☐ Can name your pediatrician
- ☐ Can name your major specialists (cardiology, ophthalmology, audiology, endocrinology)
- ☐ Understand what each specialist does
- ☐ Know where appointments happen
Knowing your medications:
- ☐ Know the names of your current medications
- ☐ Know what each does (in general terms)
- ☐ Know when to take each
- ☐ Know any allergies
Activities:
- ☐ Read 2-3 articles about your specific condition together with parent
- ☐ Attend at least one medical appointment as an active participant (not just present)
- ☐ Connect with the patient organization (ASI, ASUK, or similar)
- ☐ If possible, meet another young person with Alström at a family event
Worksheet — My condition
═══════════════════════════════════════════════════════════════ ABOUT MY CONDITION ═══════════════════════════════════════════════════════════════ My condition is: __________________________________________ In simple terms: __________________________________________ __________________________________________________________ __________________________________________________________ The gene involved: ALMS1 (chromosome 2) My specific features (what I have): ☐ Vision changes — describe: ____________________________ ☐ Hearing changes — describe: ___________________________ ☐ Heart involvement — describe: __________________________ ☐ Diabetes — describe: ___________________________________ ☐ Other: ________________________________________________ Things I want to know more about: __________________________________________________________ __________________________________________________________ ═══════════════════════════════════════════════════════════════
Conversations to have with parents
- "Tell me what you wish you'd known earlier"
- "What do you most want me to understand?"
- "What do you worry about as I get older?"
PHASE 2 — Engagement (ages 15-16)
Goals
- Actively participate in medical appointments
- Begin taking on care tasks
- Build relationships with peer mentors
Skills to build
At appointments:
- ☐ Ask at least one question per appointment
- ☐ Describe your own symptoms and concerns to the provider
- ☐ Take some notes during appointments
- ☐ Schedule appointments yourself (with parent guidance)
- ☐ Begin reviewing test results
Daily care:
- ☐ Take some medications without reminders
- ☐ Manage hearing aids or cochlear implant batteries yourself
- ☐ Manage your tinted lenses or vision aids
- ☐ For diabetic patients: begin some self-monitoring
- ☐ Recognize when something is "off" and report it
Communication:
- ☐ Practice explaining your condition to a non-medical friend
- ☐ Practice telling a substitute teacher what you need
- ☐ Practice asking for accommodations
Activities:
- ☐ Spend the second half of one appointment alone with the doctor
- ☐ Connect with a young-adult mentor with Alström or similar condition
- ☐ Read articles and watch / listen to content about your condition independently
- ☐ Attend a patient-organization youth event if possible
Worksheet — My care team
═══════════════════════════════════════════════════════════════ MY CARE TEAM ═══════════════════════════════════════════════════════════════ Name of doctor | Specialty | What they do for me ─────────────────|─────────────────|───────────────────────── _________________|_________________|_____________________ _________________|_________________|_____________________ _________________|_________________|_____________________ _________________|_________________|_____________________ _________________|_________________|_____________________ Things I want to learn from each: __________________________________________________________ My patient organization peer mentor: __________________________________________________________ ═══════════════════════════════════════════════════════════════
Conversations to have
With your medical team:
- "I want to know more about my own condition. Where can I learn?"
- "Can you explain my test results to me?"
- "I want to start managing some of this myself. What's a good first thing?"
With parents:
- "What did you do at my age?"
- "What can I start doing on my own?"
PHASE 3 — Skill-building (ages 16-17)
Goals
- Manage most daily care independently
- Make medical appointments yourself
- Begin engaging with vocational rehabilitation services
- Plan for post-secondary education or work
Skills to build
Self-management:
- ☐ Schedule your own medical appointments
- ☐ Manage your own medications without daily reminders
- ☐ For diabetic patients: full glucose monitoring and insulin self-management
- ☐ Operate your own assistive technology
- ☐ Track your own symptoms
- ☐ Refill your own prescriptions
- ☐ Communicate with the medical team between visits
Insurance and benefits:
- ☐ Know your insurance plan basics
- ☐ Know where your insurance card is
- ☐ Understand the basics of how insurance pays for care
- ☐ For US students approaching 18: research SSI/SSDI eligibility
- ☐ For US students: understand ABLE accounts and special needs trusts
Career and education:
- ☐ Engage with vocational rehabilitation services
- ☐ Explore career interests
- ☐ Build accessibility skills for college (assistive technology, mobility, advocacy)
- ☐ Visit potential colleges and check disability services
Self-advocacy:
- ☐ Practice asking for accommodations in school and work
- ☐ Know your disability rights (ADA, Section 504)
- ☐ Know how to disclose disability strategically
Activities:
- ☐ Take complete ownership of one specialist relationship
- ☐ Attend an IEP meeting as a primary participant
- ☐ Research adult specialists in your area
- ☐ Build a digital or paper version of the medical summary you'll bring to new doctors
Worksheet — Skills self-assessment
═══════════════════════════════════════════════════════════════ WHAT I CAN DO ALONE — Self-Assessment Rate yourself on each (1 = need help, 5 = independent): Take medications correctly without reminders 1 2 3 4 5 Recognize and report concerning symptoms 1 2 3 4 5 Make my own medical appointments 1 2 3 4 5 Communicate with doctors at appointments 1 2 3 4 5 Refill my own prescriptions 1 2 3 4 5 Manage hearing aids / vision aids 1 2 3 4 5 (Diabetic) check glucose and dose insulin 1 2 3 4 5 Use my assistive technology effectively 1 2 3 4 5 Travel independently in familiar areas 1 2 3 4 5 Travel independently in new areas 1 2 3 4 5 Cook simple meals 1 2 3 4 5 Manage laundry 1 2 3 4 5 Pay bills / manage money 1 2 3 4 5 Ask for help when I need it 1 2 3 4 5 Advocate for myself in school / work 1 2 3 4 5 My biggest gaps to work on: __________________________________________________________ __________________________________________________________ ═══════════════════════════════════════════════════════════════
PHASE 4 — Transfer (ages 17-19)
Goals
- Identify adult specialists for each pediatric specialist
- Make initial visits with adult specialists
- Transfer medical records
- Update insurance and benefits
Action items
Identify adult providers:
- ☐ Adult primary care physician (internal medicine or family medicine)
- ☐ Adult cardiologist with cardiomyopathy or heart-failure experience
- ☐ Adult endocrinologist with diabetes expertise
- ☐ Adult ophthalmologist with retinal disease experience (or low-vision specialist)
- ☐ Adult audiologist
- ☐ Adult nephrologist
- ☐ Adult hepatologist or GI
- ☐ Adult mental health provider
- ☐ Adult genetics or genetic counselor
- ☐ Adult sleep medicine if CPAP/BiPAP
- ☐ Adult urology if applicable
Use the patient organization:
- ASI, ASUK, and centers of excellence can recommend adult providers
- Geographic limits — local providers vs. distance to a center
Transfer process:
- ☐ Set up overlapping visits where possible (pediatric + adult specialist visits within 6 months of each other)
- ☐ Get records released from each pediatric specialist
- ☐ Create a comprehensive transition summary (template below)
- ☐ Schedule first appointments with each new specialist
- ☐ Bring transition summary to each first visit
Transition summary template
═══════════════════════════════════════════════════════════════
TRANSITION TO ADULT CARE — MEDICAL SUMMARY
═══════════════════════════════════════════════════════════════
Patient: _______________________________________________
Date of birth: _________________________________________
Date of summary: _______________________________________
CONDITION
Alström Syndrome (OMIM #203800)
Diagnosis confirmed: ___________________________________
ALMS1 variants: ________________________________________
CURRENT FEATURES
☐ Cone-rod dystrophy: visual acuity right ___ left ___
☐ Sensorineural hearing loss: ___________________________
Hearing aids / cochlear implant: ____________________
☐ Cardiomyopathy history: _______________________________
Current EF: _______________________________________
☐ Type 2 diabetes: HbA1c _____ Insulin TDD _____
☐ Sleep apnea / CPAP: ___________________________________
☐ Other: _______________________________________________
PEDIATRIC CARE TEAM (transitioning from)
Pediatrician: __________________________________________
Cardiology: ____________________________________________
Endocrinology: _________________________________________
Ophthalmology: _________________________________________
Audiology: _____________________________________________
Genetics: ______________________________________________
Other: _________________________________________________
CURRENT MEDICATIONS
────────────────────────────────────────────────────────
Medication Dose Frequency Indication
_______________ _________ _____________ _______________
_______________ _________ _____________ _______________
_______________ _________ _____________ _______________
RECENT TEST RESULTS (last 12 months)
Echocardiogram: ________________________________________
HbA1c: _________ Lipids: ____________________
ERG / OCT: ____________________________________________
Audiogram: ____________________________________________
Kidney function: ______________________________________
Liver function: _______________________________________
SURVEILLANCE SCHEDULE
Cardiology: annual
Ophthalmology: annual
Audiology: annual
Endocrinology: every ___ months
Other: ___________________________________
KEY ALSTRÖM-SPECIFIC CONSIDERATIONS
• Severe insulin resistance — high-dose insulin often needed
• History of [acute infant cardiomyopathy / restrictive
cardiomyopathy] — annual surveillance
• Photophobia — need lighting accommodations
• Hearing impairment — communication adaptations
• Compassionate Allowances disability qualified
COMPLETED EDUCATION / COLLEGE PLANS
____________________________________________________________
WORK / VOCATIONAL STATUS
____________________________________________________________
EMERGENCY CONTACTS
Primary: _________________________ Phone: ________________
Secondary: _______________________ Phone: ________________
═══════════════════════════════════════════════════════════════This summary becomes the introduction document for every new adult specialist.
PHASE 5 — Adult ownership (18-21+)
Goals
- Fully manage your own care
- Advocate for yourself in medical, work, and life situations
- Build a sustainable adult support network
Skills consolidating
Medical:
- ☐ Schedule and attend appointments alone (or with chosen support)
- ☐ Make medication decisions in collaboration with providers
- ☐ Manage urgent issues yourself
- ☐ Maintain comprehensive medical records
- ☐ Handle insurance and benefits administration
Financial:
- ☐ Understand and manage your insurance
- ☐ Manage out-of-pocket healthcare costs
- ☐ Know your disability benefits status
- ☐ Use ABLE account or special needs trust if applicable
Educational and career:
- ☐ Be enrolled in or completing post-secondary education or training, or working
- ☐ Have appropriate accommodations
- ☐ Engage with vocational rehabilitation as needed
Social and emotional:
- ☐ Have a support network beyond family
- ☐ Have a mental health provider relationship
- ☐ Have peer connections in disability and rare disease communities
- ☐ Engage with patient organizations as an adult member
Adult life worksheet
═══════════════════════════════════════════════════════════════ ADULT LIFE FOUNDATION Where I live: __________________________________________ Living independently / with family / supported: _________ School / training / work: ____________________________________________________________ My adult care team (current): Primary care: __________________________________________ Cardiology: ____________________________________________ Endocrinology: _________________________________________ Ophthalmology: _________________________________________ Audiology: _____________________________________________ Mental health: _________________________________________ Genetics: ______________________________________________ Other: _________________________________________________ Insurance situation: ___________________________________ Financial / benefits: ☐ SSI / SSDI active ☐ Active ☐ Medicaid / Medicare ☐ Active ☐ ABLE account ☐ Active ☐ Special needs trust ☐ Active ☐ Vocational rehabilitation engagement ☐ Active My support network: Family: ________________________________________________ Friends: _______________________________________________ Disability community: __________________________________ Patient organization: __________________________________ Goals for next year: 1. ______________________________________________________ 2. ______________________________________________________ 3. ______________________________________________________ ═══════════════════════════════════════════════════════════════
For parents during transition
The transition is bittersweet for parents. Some considerations:
Letting go gradually
The work of the last 14+ years has built toward this. Healthy transition isn't sudden release — it's gradual handoff with continued support.
Staying available without taking over
Your adult child still needs you, but in different ways. Be available for emergencies, big decisions, and emotional support. Don't take back what they've earned.
Your own transition
You've been a primary caregiver for years. As your child takes ownership, you have your own transition — to a different role, with different demands. Process this with a therapist or peer if helpful.
Long-term planning
Many parents continue to be involved in their adult child's care to varying degrees. Plan for what continued involvement looks like — formal (legal guardianship if appropriate) or informal (consultative support).
When the affected adult needs continued substantial support
Some adults with Alström continue to need significant family involvement. This is a reasonable continuation of care, not a failure of transition. The roles evolve but the relationship persists.
Common transition challenges
"There's no adult Alström specialist near us"
Common. Strategies:
- Telehealth with a center of excellence
- Building a team of adult specialists who individually have relevant expertise
- Periodic in-person visits to a center
- Family / patient continued role in care coordination
"Adult medicine feels different from pediatric medicine"
True. Adult medicine has shorter visits, less family involvement, more autonomy. The adjustment is real. Some adult providers do better with rare-disease patients than others — find the right fit.
"Insurance changes are confusing"
Get help. Patient navigators, social workers, vocational rehabilitation counselors, and patient organizations all help with insurance transitions.
"My adult child isn't ready"
That's okay. The phase ages are guidelines. Some young adults need more time. The work of skill-building continues.
"I'm not ready to let go"
That's okay too. The transition is gradual. Your role doesn't disappear; it changes.
Resources for transition
- Got Transition (gottransition.org) — comprehensive transition framework with worksheets and tools
- Center for Health Care Transition Improvement — research-based transition resources
- Vocational Rehabilitation in your state (US)
- Patient organizations — ASI, ASUK, Alström Angels — facilitate connections with young adults who've transitioned
- Disability rights organizations — for advocacy and self-advocacy training
Frequently Asked Questions
When should we start the transition?
Around age 14 for awareness. Active engagement by 15-16. Skill-building 16-17. Transfer 17-19. Some families start earlier; some compress the timeline; that's fine.
What if our pediatric team doesn't have a transition program?
You can build one yourself using this workbook and Got Transition resources. Some families do; others find pediatric teams who initiate the process.
What about adult children who can't fully self-manage?
Some adults with Alström continue to need substantial family or paid support. This is reasonable. Adapt the workbook to focus on whatever level of self-management is achievable. Continued family involvement may include formal arrangements (guardianship, supported decision-making).
What if we live in a country without specialized adult care for Alström?
Patient organizations can help connect you internationally. Telehealth opens up access to specialists who would have been unreachable a decade ago. The general adult specialists in your area may be willing to learn with appropriate support.
Related reading
- Transitioning to Adult Care in Alström Syndrome
- The Teenage Years With Alström Syndrome
- Adult Life With Alström Syndrome
- Building Independence in a Child With Alström
- Insurance and Disability Benefits for Alström (US)
- Care Binder Template
- Annual Alström Review Checklist
This workbook is for informational and self-management purposes. Adapt to your family and circumstances.