Seeking a Diagnosis
We're here to help you prepare for a specialist evaluation.
These resources can help you build a comprehensive treatment plan and prepare for appointments with CTD specialists and other doctors on your care team. They can also help if you are applying for disability. Please feel free to use them however works best for you.
Visit Overview
Connective tissue disorder evaluations typically include a detailed history intake, a hands-on physical exam, and possibly referrals for imaging and genetic testing.
​
-
A detailed intake covering joint history, skin findings, GI symptoms, immune/allergy symptoms, dysautonomia symptoms (dizziness, fast heart rate on standing), and family history
-
A hands-on physical exam that usually includes a Beighton score (a 9-point test of joint flexibility — wrists, elbows, knees, spine, thumbs) and a close look at skin (texture, stretchiness, scarring, bruising).
-
Possible referral for genetic testing if a specific diagnosis is suspected (Marfan, Loeys-Dietz, 12 rare subtypes of EDS). If the evaluation points to hypermobile Ehlers-Danlos Syndrome, the specialist may not recommend genetic testing, since there is currently no genetic test for hEDS.
-
Possible referral for other imaging including MRI, CT Scan and an echocardiogram (especially concerning Marfan, Loeys-Dietz and Vascular EDS)
A few tips for the visit: We recommend wearing comfortable clothing that allows joints and skin to be examined easily (shorts, a sleeveless top, or clothing you can roll up). These visits may be several hours long so be sure to bring water, electrolytes and snacks.
Evaluation Checklist
.png)
Request Your Medical Records
​​​​
Connective tissue disorders are complex, multi-system conditions that often get diagnosed only when someone connects dots across years and multiple specialists. Individual specialists often see only their own slice. Having the full record in your hands gives you a more complete picture.​ Also, if you are applying for disability benefits, requesting your Medical Record is an essential step.
​​
Here is a guide to collecting your medical record:
​​
-
Make a list of every provider you've seen related to your symptoms
-
Primary care, specialists, ER visits, physical therapy, imaging centers, and any hospitals you've visited throughout your life, as far back as you can remember.
-
-
Request records in writing using each provider's official Release of Information (ROI)/medical records request form.
-
Call or message your provider to ask for their ROI.
-
Many hospital portals (ex: MyChart) also let you request or download records directly. For a start, you can often download "clinical notes" listed under each visit.
-
-
Be specific about what you want:
-
office visit notes, lab results, imaging reports AND images (not just the report), genetic testing results, operative/procedure notes and any referral letters.
-
You may need to request the actual images separately at the hospital's imaging center. Many hospitals will only release MRI and X-Ray imaging on a hard copy CD they can mail you or you can pick up if you are local.
-
-
Ask for the full designated record set, not just a summary
-
Summaries often omit details that matter for connective tissue and cardiovascular findings.
-
-
Request electronic copies (PDF/CD) when possible.
-
Easier to search, share, and store than paper.
-
-
Track your requests in a simple log: provider, date requested, date received, method, any fees paid.
-
Your records will arrive from different hospitals at different times so it's important to keep track of all your requests. ​
-
-
Follow up if you haven't heard back within 30 days
-
A polite phone call can move things along and address any issues that may be causing a delay.
-
-
We recommend scanning can hard copies of records so that you can have a digital folder of your entire records. Several scanning apps are available that turn pictures from your phone into PDFs.
​
The website www.whereismymedicalrecord.org is available in English and Spanish. It helps you know your rights about your medical records and offers some step-by-step tools to help with the process.
Build a Medical Timeline
A timeline turns the pages of your Medical Record into a story: patterns may begin to emerge that were not visible visit-to-visit.
​
What to include:
​
-
Date (or approximate age/year if exact date is unknown)
-
Event — new symptom onset, diagnosis, surgery, injury, hospitalization, ER visit, traumatic event, significant test result, medication start/stop/change (ex: flag any antibiotic treatments)
-
Provider/facility involved
-
Notes — severity, what triggered symptoms, what helped, anything a doctor said that stood out to you.
​
How to build the Medical Timeline:
​
We recommend creating a spreadsheet because it's sortable and filterable. You can view it chronologically, or filter to just one symptom (e.g., joint dislocations) to see its progression alone.
​
-
Start broad, then fill gaps: block out major life eras (childhood, adolescence, each decade of adulthood) and place major events first, then add detail as medical records arrive.
-
Include the negative tests too: tests that came back normal, diagnoses that were ruled out — these are important information for a specialist looking at your case.
-
Note childhood details if you can recall or ask family about them: growth pattern, flexibility as a child etc.
-
Continue to update the timeline after every appointment
Collect Family Medical History
Connective tissue disorders are genetic conditions that can run in families. CTD's can look different for each person, so collecting information about family is an important step in the CTD diagnosis process.
​
What to collect
​
-
Relatives with symptoms including: joint hypermobility, chronic pain, easy bruising, stretchy or fragile skin, frequent dislocations, GI issues, allergies, dysautonomia/POTS-type symptoms (dizziness, fainting, low blood-pressure, temporary loss of vision when sitting up)
-
Cardiovascular history: aortic aneurysm or dissection, mitral valve prolapse, sudden unexplained death (especially at a young age), heart surgery
-
Eye conditions: lens dislocation, severe nearsightedness, retinal detachment (relevant to Marfan and related conditions)
-
Orthopedic history: scoliosis, early joint replacements, tendon/ligament ruptures
-
Any known genetic diagnoses in the family, even ones that seem unrelated
How to approach it
​
-
Build a simple family tree, noting age, relationship, and relevant conditions for each person. Try to include three generations back if possible (parents, grandparents, siblings, aunts/uncles, first cousins).
-
Ask open-ended questions. For example: "Did anyone in the family have joint problems, heart issues, or surgeries at a young age?"
-
Note the unknowns too: "cause of death unknown" or "never diagnosed but always had joint pain" is still useful information for a geneticist.
​
Track Your Current Symptoms in a Pain Diary
A well-kept pain diary can help identify patterns and make your chronic pain visible to clinicians.
​
What to track
​
-
Date and time of the entry
-
Location of pain or symptoms (be specific, which joint, which side)
-
Texture of pain: be as specific as possible. Is the pain burning, aching, tingling, itching, radiating (traveling across parts of your body)?
-
Severity on a consistent scale (e.g., 0-10 or mild/moderate/severe) so entries are comparable over time
-
The 0-10 scale should be based on your personal experiences of pain
-
-
Duration: how long it lasted
-
Possible triggers: activity, medication change, weather, food, stress, menstrual cycle, sleep quality
-
What helped (and what didn't): medication, rest, heat/ice, bracing, position changes
-
Associated symptoms: fatigue, dizziness, GI upset, brain fog
-
Joint-specific events: any subluxations or dislocations, which joint, and what you were doing when it happened
-
Skin observations: new bruising without clear cause, slow healing of cuts or scrapes, hives, flushing, burning sensations
​
Tips for making it sustainable
​
-
Pick a format you'll actually keep up: a phone app, a simple spreadsheet, or a small notebook. The best diary is the one you'll use daily, not necessarily the most comprehensive.
-
Log in the moment when possible
-
Set a daily reminder if you tend to forget
-
Try logging briefly in the morning when you wake up and just before bedtime for consistency.
-
Summarize weekly before appointments: best day, worst day, any new patterns, average severity — this is what you'll bring to the visit.
Build Advocacy Tools
​​​
Core resources to build
​
-
One-page medical summary: current diagnoses (or suspected), key symptoms, major surgeries/hospitalizations, current medications and doses, allergies, and emergency contacts — designed to be read in under two minutes.
-
Question list for each visit: write in advance and prioritize top-to-bottom in case time runs short
-
Portable medical folder (hard copy or digital): containing your records, timeline, family history, and pain diary summaries — organized so you can hand over exactly what's relevant in seconds.
-
A short 'elevator summary' of your situation: (2-3 sentences) for new providers: who you are, what's been ruled in/out, and what you're hoping to figure out at this visit.
-
A support person plan: someone who can come with you to appointments to take notes, ask questions you might forget, or to help you stay grounded if a visit gets overwhelming.
-
Photos, if relevant: unusual bruising, scarring, skin stretchiness, or joint hyperextension can change or fade — dated photos can be helpful
During the appointment
​
-
Ask for clarification on any term or reasoning you don't follow.
-
Take notes or ask to record (where allowed) so you don't have to rely on memory afterward. Important note: recording a doctor's appointment without the provider's knowledge and consent is a crime in some states. If you record, be sure to obtain their consent first.
-
You are in charge of your body. If a doctor is causing you excessive pain or concern during the physical evaluation, let them know. You can ask them to stop if necessary.
-
If you are experiencing pain during the evaluation, you can ask for a break. If you are feeling dizzy or lightheaded, ask for time to drink some water and eat a snack (unless it is a fasting test).
-
Know you can request a second opinion or ask for a referral to a specialist — this is a normal part of care, not a confrontation.
-
Follow up in writing after the visit if anything was left unclear, using the patient portal or a written message.
​
Navigating Insurance and Payment
​Understand your coverage
​
-
Know your plan type (HMO, PPO, EPO, etc.) and whether you need referrals or prior authorization to see specialists.
-
Check whether a specialist is in-network before booking — call the specialist's office directly to confirm, since insurer directories are often outdated.
-
If a specialist is out-of-network, contact your insurance to see if they may cover the provider due to specific, necessary circumstances (e.g. they are the only specialist in the area with a focus in connective tissue disorders).
-
Your insurance may accept prior authorizations for out-of-network providers submitted by your Primary Care doctor.
-
-
Ask about prior authorization requirements for genetic testing, imaging, or specialist referrals before the appointment, not after — this avoids denied claims.
​
If something is denied
​
-
Request the denial reason in writing — insurers are required to provide this, and it tells you exactly what to appeal.
-
Ask your doctor's office for help — many have staff experienced in writing appeal letters or letters of medical necessity.​
Additional Resource: 6 Strategies to Navigate Your Insurance Provider’s Approvals Process ​
The Night Before
A calm, prepared night before an important appointment makes a real difference in how clearly you can advocate for yourself the next day.
​
Paperwork and materials
​
-
Insurance card and photo ID packed
-
One-page medical summary printed or saved on phone
-
Question list (prioritized) ready
-
Current medication list (names, doses, timing) ready
-
Relevant portion of medical records/timeline printed or accessible
-
All paperwork requested by the provider ready to hand in or submitted (based on specific provider policy)
​
Logistics
​
-
Appointment time, address, and parking/transit plan confirmed
-
Travel time checked, including 15 - 30 minute buffer for parking or check-in
-
Support person (if attending) confirmed
-
Any pre-appointment instructions followed (fasting, medication holds, etc.)
​
Taking care of yourself
​
-
Get to bed at a reasonable time — you will feel better equipped to navigate the appointment if you are well-rested.
-
It's natural to be anxious before a big appointment. If you have trouble sleeping, don't stress. You have already put the work in to be prepared for this appointment. You are well equipped and ready. While being well-rested is ideal, remember you can take it easy after the appointment if you aren't able to sleep as much as you hoped. ​
-
-
Lay out comfortable clothing for the visit — shorts or a garment you can roll up, and a sleeveless or short-sleeved top, since the exam typically involves checking joints and skin directly.
-
Skip lotion or heavy moisturizer on exam day if the skin exam is part of the visit
-
Eat something beforehand if you're not required to fast — low blood sugar can make it harder to think clearly and advocate for yourself.
-
Do a quick mental rehearsal of your top 1-2 priorities for the visit, so you don't lose them if the conversation moves quickly.
-
Relax! Watch something fun or read a great book. You got this.
The information on this website is for general educational purposes only and is not medical advice, diagnosis, or treatment. It is also not intended to serve as legal advice or replace professional legal counsel. We do our best to keep information accurate and up to date, but science and medicine change quickly and the content here may not reflect the latest guidance or apply to every individual. Please do not rely on this site to make medical or legal decisions. References or links to external resources, organizations, products, or services are provided for informational purposes only and do not constitute endorsement or recommendation.