How can I get urgent/quick diagnosis..before sons operation?

Hi everyone. I wonder if you can help?

After my own research has lead me to believing I have a vascular form of EDS, (or a chance it could be a form of vasculitis or both?) due to my past medical history and chronic symptoms. I now urgently need a diagnosis (as do we all!) This is to know if my son could be affected .But I have read a genetic testing can take many months.

The urgency is because my son who has had a diagnosis of ME for eleven years, is due to have surgery in May 2017,and he suffers with many of the symptoms I suffer with. So I would like to know for sure if we are both affected with EDS, and then he can have this information to give the team who will perform the op and do the after care.

I am not quite sure what to do or where to go. I am due to see rheumatologist for a follow-up appointment (specialising in connective tissue disorders) hopefully to get 'the right answers'. Tests on last visit were aimed mainly at the nerve problems I suffer with. Although a physical examination regarding EDS performed, it was not mentioned, and I myself had no knowledge of EDS six months ago.

I am very worried about my son undergoing surgery for fear of complications should he have any form of EDS. I dont know everything about EDS and so I dont know how to safeguard against any complication, but I have read somewhere that there is greater risk when undergoing surgery? After eleven years, I do know about ME, and I have all the information to give about anaesthetic safety to prevent muscle paralysis.

If anyone has any information that could help me, I would truly appreciate it.

Thank you so much, and very best wishes x

13 Replies

  • Hi. I took my sons to Prof Graham at the Hypermobility unit in London for their diagnosis of EDS type 3. Their facilities are amazing there. It's private unfortunately but was worth it as their expertise is amazing. Also regarding the ME symptoms it may be worth considering a trial of a low FODMAP diet. One of my sons and my own fatigue has dramatically improved with dietary change and supplements. I hope all goes well for you.

  • You can't get a quick diagnosis as Vascular EDS is a four month blood DNA test.

    Any EDS diagnosis can take a long time, you will need to discuss with a genetics consultant.

    It's best to speak to your GP as, no offence intended Dr Google can lead you into the wrong diagnosis or assumption.

  • Hello Tillyray. Thankgoodness your son has you to support him with your intelligence, insight, and assertion. EDS is a complex, multisystem condition, for which we have to fight for validation and treatment. Look on EDS Support UK to get the details of the London Specialist Centre in London. There, diagnosis and treatments for all aspects of EDS happen, including geneticists for which is required to diagnose vascular EDS. I appreciate that this may be a long distance for you, but the regional specialist centres will not provide the level of diagnostics you require. Visit your G.P. immediately to demand referral, then you have to have been given an appointment within 12 weeks. I would telephone/write to the EDS specialists with your and your sons' explicit details, and your concern regarding your sons impending proceedure.

  • Continued To Tillyray. Demand consultation with the head anesthetist. EDSers tend to require heavier sedation, and will experience greater pain than the average person. Our complex connective tissue does not transmit the chemicals well, and has a harder job knitting back together. I presume your son has dysautonomia, as he has suffered ME, but he does need to be checked for PoTS. His STATS will need special attention. If I was having surgery I would dose myself with high levels of antihistamines. Our mast cells a predominantly located with connective tissue, and as our connective tissue is constantly splitting, so do the mast cells; hence we are awash with histamine. Having surgery will increase this reaction, hence making us more sensitive to the hospital environment, medication. For further insight I suggest you join Ehlers Danlos Syndrome and the Cusack Protocol FB. This is a very wise, informative group of thousands of EDS sufferers with a wealth of experience. I wish you and your son well in your pursuit of accurate diagnosis and effective treatment. Gentle hugs.

  • Hi Kate and Thank you for the information on the private clinic..My son although still has ME, has greatly improved from the early years of the diagnosis,and I'm sure going gluten-free has helped enormously. I know since the change of diet,it has made a massive difference to my own IBS,fatigue and brain fog..I hope your sons are doing well and I'm glad the diet and supplements have helped you all. Thanks again,and very best wishes.

    Hi anameedcapesme. Thank you for replying.I would like to reassure you,I have only ever gained information regarding my own health and my sons, and our conditions and suspected conditions,from reliable sources such as doctors and specialist organisations and charity orgs.Definately NOT Dr google. I absolutely agree that there is much misleading information and scaremongering to be found, and you are quite right to steer people away. I will be attending a rheumatologist appointment next week and intend to raise my concerns with them.Thanks again for your reply.Very best wishes.

  • Hi Chrissie and thank you for your reply.I will be attending a rheumatology appointment at a connective tissue specialist clinic next week,and I intend to raise my concerns there and ask to be referred to a geneticist.I will also arrange(demand if necessary) to get an appointment for my son.I have no problem having to travel to London,and I will look into this.

    I have been ill for most of my life,with symptoms increasing to impinge on my life in the last ten years or more. With regards to my son, he has suffered illness and disability which has been one constant battle to receive any care or understanding I am use to fighting,especially for my son!

    I have a forth coming appointment with the anaethatist in my sons surgery but will check to be certain it is the 'main man'...I will look at joining the EDS group you mentioned.

    Thank you once again.Very best wishes.

  • Hi again Kate.I wonder if you can tell me,with regards to the private hypermobility unit you spoke of, can I telephone and refer myself and son without my GP/specialist or is referral procedure the same? Thank you so much.

    Hi again Chrissie.I have looked on EDS UK and found the hypermobility unit as mentioned above, and wonder if that is the one you are also meaning for genetic testing? Also please can you give me more details of the EDS cusack protocol fb, so that I might find it. Thank you so much.

  • As you are aware you do not need to be a member to source the majority of information from EDS Support UK. The hypermobility units referred to are private, and from all the anecdotes I have read, everyone says it is money well spent. However, I am referring to the hospital in North West London which is listed under EdS Diagnostic Services for Complex Cases as they provide geneticists which would be preferable for diagnosing vascu

  • Contd. Preferable for diagnosing vascular. It does require referral from a consultant, so perhaps the rheumatologist you are seeing next week will do that. If you join EDS UK then you access PDF documents detailing the comorbidities of EDS, which is useful for informing doctors. Ehlers Danlos Syndrome and the Cusack Protocol FB is accessed by typing this name into google. Deborah Cusack used a supplement protocol to successfully eliminate EDS symptoms for herself and children, of whom one is autistic. Thousands are following the protocol with significant success. This can be viewed on its' sister sight Ehlers Danlos Syndrome and Recovery

  • Contd Again! Sorry my tablet is tempermental. The supplements are readily available from specialist suppliers. Since being diagnosed in June 2016 I discovered this site, which gave me enormous insight and explanation of my many difficulties. I had import difficulties in sourcing the start of the protocol in September, so with various other health factors thrown in I will wait until New Year to pursue this venture. You certainly have everything under control, so I do hope that you get responsible proaction from the NHS. I have had a very long battle with the NHS to gain validation, diagnosis, and treatment. So I am just in the early days of regaining mobility, and am slowly gravitating from being the sedatary shell of my former self that I have agonisingly endured for nigh on 2 years. As you and your son are aware perseverance eventually bears fruitful. Best Wishes.

  • Hi chrissie.I want to thank you for taking the time to reply to me at length.The information and support you have given is so much appreciated. I will definitely look at all your suggestions and pursue the referral. Thank you again,for everything..I wish you all the very best of health.x

  • Hi,

    I don't know what surgery your son is about to have but having experienced my son's and self getting through surgeries two things that should also be taken into account are that if a drain is put in to allow surplus blood/fluid to drain from site then thus should be left in for twice the time and at the point of "fixing " the wound be it stitches or staples etc these should be checked regularly and also left in for longer as the connective tissues in EDS are known for slow healing and pulling apart more easily.Given the extra care surgery is safe and we've been through several procedures.

  • Hi Littleelffie. Thank you for taking the time to reply.The information you have given is greatly appreciated. My son is to have jaw surgery next year, and as you will know it is an anxious time.But it is reassuring to know that by putting in place the extra care,surgery is safe. Thank you once again. Best wishes and good health to you and your son x