EDS - When the Dr has a rare genetic condition
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Found this today and thought it might be of interest to some me/cfs people who also live with EDS. I found it to be a hopeful story!
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@andie Thankyou for posting this! I've straight away sent it to my daughter, but it feels relevant for me too, in a background kind of way.
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@dot I’m glad it was helpful!
Adding to the content of this article from a personal perspective. It took approx 25 yrs for me to get a diagnosis in Aust.
Thankfully, it won’t take that long for a close relative, now that our GP is aware & has immediately referred them to the relevant specialist
I’d never even heard of the condition prior to diagnosis & have only just been able to pronounce & spell it!
Happy to share privately about where to go for diagnosis in Au & how my mgt plan is going, a couple of months in. It’s early days but going well
In hindsight though, there’s a lot of things I’d learned to do, over the years, that worked well. Others, that didn’t, and ‘should’ have (for people without EDS).
Now I’m building on the stuff that works & ditching the rest
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@andie Thanks so much.
My daughter does have a good friend who has EDS (as well as polycystic ovaries and a couple of other difficult syndromes) who is a great resource for her, but I will let her know.
She had already seen the article
I knew early that she has amazing connective tissue since I could easily hold her foot right up against her shin, ooh I can't remember how long for... after she could walk. That's something newborn babies can do, but it usually doesn't last long.
Her symptoms are mild, but she is noticing she has to be careful with lots of things, and she does struggle with energy/fatigue.PS Yay for building on the stuff that works, and ditching the rest!
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@dot good to hear your daughter has the support she needs
From my understanding of this condition, it manifests in ways that aren’t always obvious. Connective tissue can be affected to varying degrees & is more prevalent for some people in particular systems, organs & joints, than it is for others.
It’s also challenging for people who lived with adversity during childhood & may not have received access to appropriate medical care. Their ‘carers’ may not have had the capacity to identify, question & seek appropriate intervention.
For those who have little or no knowledge of bio family of origin health status, there’s possibly another layer of difficulty.
So that’s just some of the reasons why its challenging even for educated GPs & parents to join the dots, & understandably may go undetected for years 🧐
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@Andie So true. Another condition that we are so bad at understanding, recognising and treating. It is awful how many people slip through the cracks. I am so glad you finally got there, and getting information like this out can help others.
