Edward - "Living with PLOD1-Related kyphoscoliotic Ehlers-Danlos syndrome (kEDS)"

"I'm Ed, I'm 19, and live in the UK. I have been diagnosed with kyphoscoliotic Ehlers-Danlos syndrome (kEDS) since 2019, and Oesophageal Achalasia since 2022, although I have had a clear understanding of my condition for most of my life, even if I didn't know what it was called!
I was born in New Zealand, then moved to the UK in my preteens with my family. I am now about to start a degree in Japanese in York."
Edward shares his experiences for the Genetically Defined EDS: Strategies & Solutions for Unmet Needs Hybrid Meeting.
What is kyphoscoliotic Ehlers-Danlos syndrome (kEDS)?
kEDS is a genetic connective tissue disorder that causes kyphoscoliosis, muscle hypotonia, and joint hypermobility. kEDS is caused by differences in the genes called genetic variants. These genetic variants affect the connective tissue, which provides support, protection, and structure throughout the body.
kEDS is caused by genetic variants of these genes:
PLOD1
FKBP14
Edward has the PLOD1 gene.
PLOD1 and FKBP14 variants are each associated with a different set of symptoms, but variants of both genes are associated with:
Congenital or early-onset kyphoscoliosis
Muscle hypotonia (low muscle tone)
Joint hypermobility
Delayed motor development
Issues with the eyes (including bluish sclerae and refractive errors)
Foot deformities (including clubfoot and flat feet)
Soft, stretchy skin
Easy bruising
People with PLOD1-kEDS may also have:
Joint instability
Skin fragility
Atrophic scarring
Ocular fragility
People with FKBP14-kEDS may also have:
Congenital hearing loss
Muscle atrophy
Learn more: www.ehlers-dan...