Help where should I turn.

[Siddy66]

Hi well where do I start. Something has just clicked and I think myself ny daughyer and son and even my husband has some form of this disorder. I have only been to gp with daughter who is 17. She has IBs is probably on the autistic spectrum but high functioning. She has fatigue lots of mainly leg pain mainly but struggles with it. Ive notice she has stretch marks in places i would not expect. She has hypomobilty. I took her to see the nurse who has sent her for bloods and refered to physio no rheumotologist. I also have hypomobilty non of this diagnosed i have had endometriosis diagnosed at 44 with ischemic heart disease and have a duplex kidney . Her dad has fibro mixed connective tissue disease and hypothyroidism. Shoukd i just plod on with my thoughts or go back and ask for a referal and who should we see i live in chesterfield.

[Jay66]

Hi. I would definitely push for a referral. There is a link between ASD and hEDS/HSD, and with the family history it does seem plausible. It would also give you an idea of what further medical issues to be looking out for and aware of.

[Siddy66 in reply to Jay66]

Hi and ty. Will ring next week.x

[Steenygirl1]

Do you mean hypermobility? Hypomobility is lowered joint mobility, basically stiff joints, which we often get as we age. Sorry to seem pedantic, just if you are going to see the doctor....

[Siddy66 in reply to Steenygirl1]

Hi yes must of been predictive text. Im nearly 50 still csn put my hands to the floor and put my feet to my face lol.x

[Tillyray]

Hi. We all have to do our own research and piece things together in pursuit of a diagnosis and appropriate treatment/ management. It has taken most of us many years to receive a correct diagnosis of Hypermobile Ehlers danlos syndrome (hEDS) mainly due to GP's and general rheumatologist not having knowledge of it, or understanding the severity of our symptoms in relation to hypermobility. For this reason a lot of patients including myself and my son, have had to see a private specialist in London. Dr Hakim we can highly recommend...

alanhakim.com

Very recently an EDS toolkit was launched to educate GP's to enable them to give better support to patients with hEDS and HSD and also to familiarise them with signs and symptoms of undiagnosed patients. This is a great source of information for Drs and other medics. You should take the link with you to your next GP appointment, explain your symptoms and that you relate them to hEDS which is hereditary disorder of connective tissue, and that you believe your daughter also has similar symptoms.

rcgp.org.uk/eds

If you are referred to a rheumatologist which is the usual specialist for this (A geneticist can test for EDS syndromes, but can not as yet test for the hypermobile type of EDS) it is crucial that they have knowledge in EDS and not just hypermobility, as otherwise they will be unlikely to connect your symptoms, and you can find yourself -as I did- for years on a merry-go-round of medics who cannot diagnose your condition. If you chose to go privately, you should make appointments for both you and your daughter to be seen together or consecutively. This will assist with making the hereditary link to diagnosis of EDS if that is what you and your daughter should have.

Physiotherapy is recommended for hEDS and HSD, but it is important that the therapist specialises in hypermobility in order to strengthen muscles which will help to protect unstable joints, without causing damage or increasing pain and fatigue.It would also be beneficial if they were familiar with EDS, HSD but you can get information, leaflets to hand out from..

hypermobility.org (HMSA)

ehlers-danlos.org

A fabulous resource to have is the book by Claire Smith; understanding Hypermobile ehlers-danlos syndrome and Hypermobility spectrum disorder. Redcliff House publications 2017.

Read and learn all you can, because you will need to be the one to educate medical professionals along your health journey.

We are here to support you. Good luck and Best wishes xx

[Siddy66]

Hi thats a great response shall get the book too. It may effect my son too. Hes been under childrens for lots of things since he was 3 and tgis is what sparked all this off when he was having lots of respiratory tests and asked if he had a curved spine and measured his arm spam which was only 1cm difference from his hieght. He can pop his arm in and out etc. Thank you donna