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May was EDS Awareness Month post 8

May was EDS Awareness Month, I am a little late to the party as I had pretty serious Neurosurgery on the 9th May, a month ago today! So I am still in the early stages of recovery but I am going to contribute the best I can and will do 31 days of blog posts which will take me into June.


I will be answering @taylers.danlos.syndrome‘s 31 EDS Awareness Month Challenge questions not necessarily in the order they were originally asked in, inter-cut with photos, an EDS titbits and throughout June a signpost to content about accessibility in LGBTQ+ community for Pride month. Go back to post 1 to see the 31 questions in full.


***Disclaimer*** Nothing on these posts should be taken as medical advice, I am speaking from personal experience.



Photo taken by @OscarVinter

[#imagedescription a photo of Charlie, a young white woman in a wheelchair. She has medium length brown hair and sheilds her face from the sunlight with her right hand. She is on a train platform in front of a red waiting bench. She wears a white and blue stripped jumper and a white and green neck brace. She has a green coat and scarf on her lap. Across the bottom of the photo is a semi-transparent white banner with writing in black font, 'What is "your" normal?']


Although it is post number 8 I am answering question number 10 today.

10. What is “your normal”?


My health has fluctuated, deteriorated and changed so much in the last 5 years, it has never been consistent enough to have a period of normal, just when I have got used to a level of energy or a possible treatment, diet or pace of life that I think is keeping my health or illness at one level something changes. I no longer have a normal, my partner and I have to constantly adapt in a practical day to day sense but also our long term plans. Some people’s experience of chronic illness is very different and maybe I will find a normal, maybe I will one day be able to maintain some sort of routine. But for now life is precarious and we ride the waves of illness as safely and with as many moments of joy as we can, knowing to never be shocked, take on changes calmly and not be too rigid with our expectations or put too much pressure on my body and ability.


EDS titbit or tidbit as the Americans say: Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)

This type of EDS 'is caused by changes (mutations) in the PLOD1 gene or the FKBP14 gene and it is inherited in an autosomal recessive manner.' (https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome) meaning you need to inherit two of the affected/mutated genes to develop the disorder, so both parents would need to have at least one affected gene, however if you only have one affected gene then you are a carrier but you do not present with symptoms or have the condition. If both parents are carriers some of their children may inherit both affected genes and have the illness, some may inherit one and be a carrier and some not inherit any of the affected genes.

For an other view of the types of EDS, which genes we know cause the different types, what protein the gene affects and if the pattern of inheritance is autosomal dominant or autosomal recessive check out this table from The Ehlers-Danlos Society: https://www.ehlers-danlos.com/eds-types/

The 'disorder characterized by hypotonia, early-onset kyphoscoliosis, generalized joint hypermobility, skin fragility, and ocular abnormality. ' (https://www.ncbi.nlm.nih.gov/books/NBK1462/)

'Major features:

-Congenital muscular hypotonia (progressive or non-progressive congenital or early-onset kyphoscoliosis)

-Generalized joint hypermobility with dislocations/subluxations (shoulders, hips, and knees in particular)' (https://www.ncbi.nlm.nih.gov/books/NBK1462/)

For more info on Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS) check out the reference links:

https://rarediseases.info.nih.gov/diseases/2083/kyphoscoliotic-ehlers-danlos-syndrome

https://www.ncbi.nlm.nih.gov/books/NBK1462/

https://www.ehlers-danlos.org/information/kyphoscoliotic-ehlers-danlos-syndrome/


LGBTQ+ Is pride accessible signpost?

June is Pride month! Throughout June I will be signposting to content that asks the question is Pride accessible? And, if not, explore how it can become accessible. So whether you identify as part of the LGBTQIA+ community or whether you are an ally, ask yourself if the pride events you are attending are accessible and inclusive and how they can be more so. Watch this vlog by Aaron Ansuini

https://twitter.com/aaronlinguini?lang=en on ‘Accessibility At Pride’ with a focus on Neurodiversity: https://www.youtube.com/watch?v=cXL7M2gaeX8

Aaron Ansuini also started a non-profit called Let’s Get By Together check it out: https://www.letsgetbytogether.org/

I will be adding these 'is Pride Accessible' content signposts to my EDS awareness posts throughout June. Look out for them.

[#ImageDescription - Charlie, a young white woman is centre frame and smiles at the camera. She has short brown hair which partial goes across her face. She is holding a pride flag and wears a white stripy top and dark blue raincoat. She also wears a feather necklace which is red, yellow and turquoise. Only her upper body is in frame. There is a crowd of people blurred out behind her and buildings and a red double decker bus. Superimposed on the photo at the top of the image is a semi-transparent rainbow with the title Is Pride accessible?' in bold, black font].

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