Sons, Mothers and Ehlers Danlos Awareness Month
It’s the last day of Ehlers Danlos Awareness Month and, of course, I’ve left it to the last day to write anything about it. It’s not that I haven’t done…
Search Results for: ehlers danlos
What’s in a name: Ehlers-Danlos Syndrome gets an important makeover
…lose their diagnosis. It’s now happened to another condition that also affects me and my sons, the rare disease, Ehlers-Danlos syndrome. Although The EDS Society patient group was involved in…
Ten Top tips for when your child is diagnosed with a rare disease
…me. Six have been for rare conditions: Reflex Anoxic Seizures (Youngest) Ehlers Danlos syndrome/PoTS (all three of us) and Punctate Inner Choroidopathy (Me). My husband also has his own rare…
#RareDisease Day 15: Rare with a twist makes a complex medical mystery
…affected by Ehlers Danlos syndrome but in Jenny’s case, it is a much more complicated picture as this is such a multi-faceted condition. As with myself, Jenny’s children are affected…
A 16 year quest to diagnose our rare bendy daughter
…though, and the collagen disorder that my sons and I have, Ehlers Danlos syndrome, is one that is benefitting and we are finding that one type of EDS, Hypermobility, is…
SEND Research
…Return to Top Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome Genetics in Medicine This paper reports the use of next-generation sequencing to identify…
Read SEND/medical research
…Medicine This paper reports the use of next-generation sequencing to identify the different gene variants causing Ehlers-Danlos syndrome in a group of 177 patients. Next-generation sequencing (NGS) is quicker and…
Professional pleasantries: Why Jenny thinks complaining can sometimes be counter-productive
…came to see me when I was in rehab for my Ehlers Danlos syndrome*. Jenny knows all about EDS because she and her children are also affected. Jenny has her…
The power of pacing: Managing energy with a rare disease or chronic illness
…and chronic fatigue and pain condition, Ehlers Danlos syndrome. EDS is an insidious condition. It’s sneaky and unpredictable. One moment you can be feeling okay. Then you get out of…
The pioneering STARS putting patients at the heart of healthcare
…is how it has manifested for her, along with Ehlers Danlos syndrome*. As you know, I also have these syndromes and they aren’t much fun for me, so it must…
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome
Genetics in Medicine This paper reports the use of next-generation sequencing to identify the different gene variants causing Ehlers-Danlos syndrome in a group of 177 patients. Next-generation sequencing (NGS) is…
Unexpected association between joint hypermobility syndrome/Ehlers–Danlos syndrome hypermobility type and obsessive–compulsive personality disorder
Rheumatology International The authors assessed 45 patients with Joint Hypermobility Syndrome/Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT) for a number of psychiatric disorders and compared the results to a control group. They…
Psychiatric disorders in Ehlers–Danlos syndrome are frequent, diverse and strongly associated with pain
Rheumatology International This study looked at the link between Ehlers-Danlos syndrome (EDS) and psychiatric disorders in a study involving 106 adult EDS patients in Canada. The authors found that EDS…
Warrior to worrier: When an SEN mum drops the ball
…much to do at the moment. As you may recall, I became ill a year ago that was eventually diagnosed as Ehlers Danlos Syndrome, Postural Orthostatic Tachycardia and Chronic Pain….
Autism Understanding Day – why hasn’t it caught on yet?
…so on, as well as any number of genetic conditions from Down’s Syndrome to Ehlers Danlos Syndrome. So, autism awareness/understanding raising days are quite a big job already and DSM5…
Does the government really want to support disabled young people to go to university?
…is autistic, has ADD and Ehlers Danlos syndrome, started at a new university. She had to drop out after a year at her previous uni because of health problems. She…
How to help manage your children’s pain
Following on from Monday’s post, when I briefly talked about Son2 having Ehlers Danlos Syndrome and suffering from pain, there is help at hand for parents when their child is…
The curious decision to keep disabled children at school despite the Coronavirus crisis
…all provisions in every child’s EHCP could be fulfilled, legal document or not. Personally speaking, I insisted we collected my 20-year-old with ASD and Ehlers Danlos syndrome from her busy…
Going to Uni: The Disabled Students Allowance assessment
…supported him at home too as you would expect, because he often struggled to cope with deadlines, anxiety, and ASD issues, as well as fatigue and pain from his Ehlers…
Autistic children unlawfully denied care assessments: Your parent carer group can help further research
…Ehlers Danlos syndrome, we were refused, despite this being unlawful. Many requests simply come back, “Not known to service” – in other words, if they are not already under a…