Need some advice, Please.

[bighel]

Hi everyone, my daughter had Ehlers - Danlos, Husband and I where told that we where carries of the gene. I have always ached and been in pain but recently I have lost weight thinking that it would help but I feel that I am constantly in pain, bones clicking and crunching, muscles aching. Had blood tests but all coming back normal. Doctor saying it's nothing to do with Ehlers - Danlos gene. Could it be anything to do with Ehlers - Danlos?????

[Tillyray]

Hi bighel. I hope your daughter is doing well and has good medical support from a specialist, as she may need to see a physiotherapist, podiatrist and occupational therapist, which her specialist/ paediatrician should organise.She may also need to be referred to other specialist consultants, about other body system problems that can be present or arise.. You don't say what her EDS diagnosis is?..

EDS is an hereditary disorder of connective tissue, but everyone is affected differently, even in the same family. But as you explain you are carriers, it should be that you do not show any signs yourselves, but I have limited knowledge in the EDS genes connection.

Only a specialist in hypermobility, EDS - by clinical testing- or geneticist - by blood testing- can diagnose it. A genes test is done at genetic centre-.. In my experience, no Doctor/consultant unless they have a back ground knowledge in hypermobility syndromes, or specialise in EDS will be able to understand, that symptomatic hypermobility can cause overall health problems. They most certainly will not recognise signs of EDS.. You should see a specialist rheumatologist if you haven't done so. thehypermobilityunit.org.uk or ask your GP to refer you to a geneticist. Which family members can do after a close relative has an EDS diagnosis- there is no genetic testing for hypermobility EDS- also have a look on HMSA website for information; Genes & Inheritance..

If the blood test you had was by a geneticist, then it could be that you are suffering joint pains and problems that are due to something else? You should still ask to be referred to a rheumatologist, they will test for other conditions.

Best wishes to you and your family 🙂 xx

[Boombiddy]

Hiya bighel,

Your doctors may not be aware that currently there is no gene test for the Hypermobility type of Ehlers Danlos, and the Hypermobility type is the only EDS that cannot be tested for by a geneticist. That needs an expert in the condition.

Since you have symptoms you can ask to be referred to Dr. Kazkaz at the Hypermobility Unit within the rheumatology dept. at University College Hospital London. (This is NHS, not private, and is the best way to go too, unless you have a ton of money. Dr. Kazkaz is one of the few specialists in EDS who work in the NHS. She referred me to specialists who really helped, including specialist physio, a neurogastroenterologist who specializes in the gastro problems of EDS, and a specialist neurology dept. who all were tremendously helpful in helping me manage the condition). To get the referral you need to be referred by a rheumatologist.

The best people to advise you on how to do this and all the details you will need are the HMSA (Hypermobility Syndromes Association), there is also Ehlers Danlos UK.

Hope you get what you need. It's a bit of a slow process but worth it. I found the HMSA the best for practical advice, they should be your first port of call.