Answers at last

[Anne2018]

Just got back from seeing Dr Phillip Bull a private specialist in Hypermobility and EDS, he has diagnosed my son with Hypermobility EDS and POTS, given us both some great advice. For anyone who has been fobbed off by some Rheumatologists who have not got the skills in diagnosing EDS, it really is worth seeking out a specialist. I struggled to get the money but every penny spent is worth it knowing that my son & I now know what we are dealing with and he can be treated to get as the best out of his body and life.

[Jay66]

Sounds brilliant Anne. I know that many Rheumatologists have no idea how frustrating it is to not have a diagnosis. If you are living with the condition, it is such a relief to get a label for it. I have not heard of Dr Bull - where is he based?

[Anne2018 in reply to Jay66]

He was amazing, he’s at Ashford, he’s also one of the main advisors at Hypermobility Syndromes Association.

From the moment he saw us, he made sure my son & I understood the diagnosis, nothing was too much trouble, he also said buying the book lets the doctors and anyone else who doesn’t quite get it, understand the everyday symptoms that you all have to endure.

[TwinklingStar]

I'm very pleased you managed to go privately for a diagnosis. There are too many Rheumatologists out there who still don't seem to be "clued up" about EDS.

I was diagnosed by a self referral private appointment with Professor Grahame. After I was diagnosed my Sister and BOTH my parents were diagnosed. It's rare to have both parents with the same genetic condition and it is has been suggested by a different Consultant that this may be why we seem to have a mix of hypermobility type and vascular type but I am not sure about this. We really need to get genetic testing done but have found it hard to get referred for it even though this was recommended. This is not really under my own control as I am too ill to travel. I am sure I would have had been successful as I would have just demanded to be tested. After my Sister and parents were diagnosed my own daughter and two grandchildren were diagnosed and my Sister's children and grandchildren were also diagnosed. Most of us also seem to be Dyspraxic.

There are so many people who are being denied the correct treatment because they don't have a diagnosis. With a diagnosis you can now at least move forward and study everything and gain the knowledge you both need to manage any symptoms. I remember you coming on the group to ask about seeing a Consultant privately to get a diagnosis. You will meet some Consultants who still don't want to accept the diagnoses of all the things your son has got wrong. Just make sure you don't let any of them mess you around by sending you for a ton of completely inappropriate tests. You have the diagnoses you don't need anyone trying to disprove it! Intrusive tests can be dangerous for people with EDS so please be very careful if they are ever needed. I would recommend that any intrusive tests be carried out by/ or in the presence of someone skilled in the EDS and EDS related problems. I have had almost my whole body damaged because of being exposed to inappropriate surgeries and invasive procedures. Advice from an EDS Consultant should be sought prior to all Surgeries and invasive procedures.

I am now 62. I battled from the age of 15 for a diagnosis of my EDS and when I was 13 Marfan Syndrome was discussed so the NHS were well aware that it was highly likely that I had a connective tissue disorder. I was age 54 when I eventually became aware of an official diagnosis. However, when I requested a copy of all my medical notes I discovered that a Doctor had diagnosed me when I was around 30 years old. I suspect that they knew what was wrong with me when I first started school. At age 5 the school doctor picked up that I was "not normal" at my very first school medical. I was sent to remedial classes twice a week. I am so pleased people are getting diagnosed earlier now. Just remember that you sometimes have to be very assertive towards medical staff to ensure that no harm is done.

Also don't forget to exercise - non weight bearing exercise is the best form of exercise. Swimming is a good option. However, I have to avoid all exercise which requires circular movements of the joints such as: cycling which requires circular movement of the knee joints; breast stroke which requires circular movements of the shoulder joints. I am sure there are more but I cannot think of them right now. Stay strong.

love from Twinkling Star Xxxx

[Anne2018 in reply to TwinklingStar]

Thank you so much, the journey is a long one to get diagnosed but at least for us we can start another journey in getting my son as well as he can be.

Luckily for us we had seen a Consultant physio therapist two years ago who was amazing and our specialist that we saw the other knows her and will be getting in touch with her so that we can be transferred back into NHS. He advised my son that with the right physio, diet and meditation he should be able to start to feel a little better. No procedures so all is good.

If it wasn’t for this group I wouldn’t have gained the insight into knowing where to start.

Thank you ☺️