What to Expect at a Genetics Appointment for hEDS

[@ehlersdanlosandi]

What was your appointment experience like? I'm curious how it varies at different locations stateside or around the world!

[@Catlily5]

I live in the Southwestern USA. The geneticist refused to see me after my referral to him. He looked at my chart and told my primary care doctor that I probably had Ehlers Danlos but that there was no point in diagnosing me since there was nothing that could be done.

[@ehlersdanlosandi]

@@Catlily5 It's so frustrating to hear stories like these. The diagnosis matters, and while there's no cure, there's definitely treatment options out there.

[@Catlily5]

@@ehlersdanlosandi It is frustrating. I told my primary care doctor that I wanted it noted in my chart that I probably have it in case I have more serious issues.

[@ehlersdanlosandi]

@@Catlily5 that was good thinking on your part!

[@Catlily5]

@@ehlersdanlosandi Yes, I am already diagnosed with POTS luckily. After 10 years of problems at least I know why.

[@heathernichol6932]

My geneticist appointment is Monday !!! Thank you for this video 🙏🏼

[@ehlersdanlosandi]

You're welcome! Good luck with your appointment on Monday!!!

[@charlottestandage2765]

Thank you so much for this video. I watched this before my appointment in London at the hypermobility clinic. Here in the UK we are sent to rheumatologists. I was diagnosed with hEDS. I wore shorts to my appointment as it was very hot in the UK at the time. Its so strange... She also tested my hand in the way your geneticist assessed yours! I remember thinking about that at the appointment! Thank you for spreading awareness to this condition! Xxx

[@cattails4422]

Thank you for this very helpful video.🙂

[@ehlersdanlosandi]

You're welcome!

[@ariannaparisi9312]

Have mine coming up in October. Thank you for this ❤️

[@ehlersdanlosandi]

You're so welcome! I hope everything goes well!

[@Jayp515]

Thank you so much!!! I am finally getting my appointment in december and i am so nervous i almost made myself sick thinking about it. This helps so much 💕

[@ehlersdanlosandi]

You are so welcome! Good luck at your appointment!

[@cagleaf]

Thanks for info! Still struggling to get a diagnosis.

[@ehlersdanlosandi]

@@cagleaf I'm so sorry you're struggling! Getting a diagnosis is such a drawn out process sometimes. I've read the median time to get a diagnosis is 10 years long from when you seek help to actual diagnosis of EDS!

[@bethanyspence4156]

Thank you for sharing this! I’m currently awaiting a call to schedule my appointment after my primary doctor sent a referral, and I didn’t know what to expect.

[@ehlersdanlosandi]

You're so welcome! I hope everything goes well! I've heard wait lists are long to get in right now, so hopefully it won't be too long for you!

[@Hansen23900]

What was the variant that was uncertain??

[@ehlersdanlosandi]

I'll have to log in to my Invitae account and look, I do remember that it was on the FNB1 gene but not the exact varient of the gene. I'll post when I figure it out!

[@ehlersdanlosandi]

Found it now! The varient is c.1837+4C>T (intronic) on the FBN1 gene and is heterozygous.

[@fuzzydragons]

very helpful, sadly i hardly think an appointment on the NHS is going to take 2 hours lol prob 10 minutes :/

[@ehlersdanlosandi]

That's definitely unfortunate!

[@Truerealism747]

Yes had to go private still awaiting tests