Rare Diseases: Kyphoscoliotic Ehlers-Danlos Syndrome
I had the chance to ask 30-year-old Emily, who lives with Kyphoscoliotic Ehlers-Danlos Syndrome some questions about her journey thus far.
Diagnosed at 25 after seeing multiple specialists, physiotherapists, occupational therapists and a finally a geneticist, Emily had four rounds of genetic testing to arrive at her diagnosis. “When I went to my first appointment, they already had the blood test forms out and ready; I remember being so scared.”
Emily shares, “The day I got diagnosed with Kyphoscoliotic EDS, I was very emotional. I was both happy to have a diagnosis and scared about what the future would hold.”
Living with any rare condition brings with it a rollercoaster of emotions, and Emily says, “The hardest part is not knowing how I will be feeling each day, or from morning to afternoon.” She reports that she has found friends online who have similar symptoms and she receives valuable support from them. She has had the chance to use her life experiences with kEDS to help others on the journey.
For anyone going through the process of diagnosis of Kyphoscoliotic EDS, Emily shares a message with you: “Don’t give up; keep fighting, no matter how hard it gets. You know your body the best.” She also adds, “hold on tight, the medical merry-go-round rarely stops, but don’t always take what the first doctor says as gospel; fight for your rights, and seek a second opinion if you think something is not right.”
If you or someone you know is going through the process of diagnosis or are newly diagnosed, please reach out for support. At Hypermobility Connect, we welcome people living with all hypermobility-related conditions. You can join our closed Facebook Group, like our Page, and follow us on Instagram & Pinterest.
According to the Genetic and Rare Diseases Information Center, “the signs and symptoms of kyphoscoliotic EDS vary but may include:
- Hyperextensible skin that is fragile and bruises easily
- Joint hypermobility that leads to frequent dislocations and subluxations (partial dislocations)
- Severe hypotonia at birth
- Progressive kyphoscoliosis (kyphosis and scoliosis), present at birth or within the first year of life
- Scleral fragility
- Abnormal wound healing
- “Marfanoid habitus” which is characterized by long, slender fingers (arachnodactyly); unusually long limbs; and a sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
- Fragile arteries that are prone to rupture
- Delayed motor development
- Unusually small corneas
- Osteopenia (low bone density)
- Congenital clubfoot
- Cardiovascular abnormalities such as mitral valve prolapse or aortic root dilatation (enlargement of the blood vessel that distributes blood from the heart to the rest of the body)”
Kyphoscoliotic Ehlers-Danlos Syndrome (EDS) is caused by changes in the PLOD1 gene, and, rarely, in the FKBP14 gene. Kyphoscoliotic Ehlers-Danlos syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers (GARD, 2017).
Michelle is a Senior Occupational Therapist working solely with adults with hypermobility and related conditions. Michelle is the owner of Hypermobility Connect, an online platform for people with hypermobility to connect with resources, health professionals & each other. Michelle practices OT in her private practice and provides education to health professionals relating to hypermobility conditions.