Thread by @stcohen112

Many people asking recently "why is an #hEDS diagnosis important if there's nothing I can do about it?" There's a simple answer and a complex one. Simply: because that's not TRUE - there's LOADS we can do about it. A brief 🧵

1. Knowledge is power. Knowing the answer that connects the dots for your symptoms helps put YOU in control of your health. Its also extremely validating to have answers.

2. #hEDS diagnosis can point docs connect seemingly unrelated symptoms. Struggling with your asthma symptoms? Maybe you need an #MCAS eval. Always feel like your heart is racing? Maybe check for #POTS.

3. Help planning other medical needs. Dental surgery may need different/more local anesthetic. Delivering a baby may need more advance planning for pain control or methods. Anesthesia care would be extra cautious handling neck and jaw. The list goes on.

4. Screening. Literature changes, but right now I refer all patients for heart screening with an echo to check their aorta and valves, and ophthalmology yearly to keep an eye out (sorry not sorry) for changes in the lens and retina.

5. Genetic counseling. This is highly personal. Some want to know the risk to kids, others want definitive dx. Right now, #hEDS doesn't have a genetic test or lab test - but maybe it will in the future! The better we get at clinically dx hEDS, the more chance we have to find it.

6. Better quality of life. Aside from validation, the dx helps guide treatments you choose & personalize expectations and goals. PT for #hEDS may need a more deliberate pace to avoid backsliding and maintain progress plus regular "tune-ups". KEY: find am EDS-knowledgeable PT!

The list goes on. Bottom line: saying "there's nothing to do anyways" is outdated & wrong (gaslighting, anyone?)! We can't cure #hEDS (yet) but there's SO MUCH we can do when we have the right diagnosis. And to me as both patient and doctor, that's always worth it. #zebrastrong

@threadreaderapp please unroll

Here's the story of my own experience with #gaslighting and why accurate diagnosis and treatment matters to me so much a physician. Thanks to @BluesteinLinda for collaborating on this piece! Major validation and catharsis. kevinmd.com/2022/06/what-a…

And in podcast format. Thanks @kevinmd for the platform to raise my voice! kevinmd.com/2022/08/what-a…

Amazed & humbled by the response🥹 Sad that this struggle resonates w/ so many. I aim to help patients advocate for themselves & educate colleagues in medicine so I'll try to answer your questions! Together we can shift the culture away from systemic ableism and paternalism! 🦓🙏

For those asking "how/where do I find care??"
1. Check the EDS society worldwide registry, filter by location ehlers-danlos.com/healthcare-pro…
2. Genetics is often more experienced in diagnosis than rheumatology (why? EDS is hereditary and not technically inflammatory/rheumatologic)

3. Current criteria were designed so primary care etc could make diagnosis independently. Bring in this checklist ehlers-danlos.com/heds-diagnosti…; if they're uncertain but willing to learn, there are courses and literature to help

4. Consider PRISM Spine and Joint in Maryland prismspineandjoint.com. I see peds <21, my colleagues tx adults. We evaluate, diagnosis, manage AND create a plans for home. Can't travel? We offer online info sessions for education. Made possible by the incredible @DocZing