?underlying connective tissue disorder

[Sushi]

Oh I meet at least 5 on the beighton scale though several years ago this was totally ignored by rheumatologists in the UK . My feet have also gone flat this past twelve months and walking is becoming more and more difficult . Sometimes I feel like im being held together by tiny little strings and some day soon they are all gonna snap . I was also born with dislocated hips all of this has been ignored .

Dr. Rodney Grahame in the UK is a world expert: http://www.uclh.nhs.uk/OurServices/Consultants/Pages/ProfRodneyGrahame.aspx

Sushi

 

[merylg]

Hi Meryl - your rsearch powers are awesome - you are certainly keeping me on my otes and looking for clues. I was interested yesterday to read up more on connective tissue disorders, Marfans etc and links you posted. This is what jumps out at me from my family.

I was born with a patent Ductus arteriosis (not premature baby) which i had tied, in open heart surgery at 6 (quite old!) Back in thos edays there was no keyhole surgery, so it was yank the ribs apart, massive scar etc. I didnt know its common in some Connective tissue disorders (can we call them CTD so i dont have ot keep typing it?)

I have long slender fingers, and grew very quickly as a teen ager i was very tall, but didnt realise my potential and only made it to 5 ft 6 in (although i am taller than all preceding members of my family)

My son, who is not ill with M.E is VERY tall - 6 ft 4in at 21, very long arms and legs, very slim fingers. He has the concave sternum (very thin) also has many stretch marks all over body - especially down back , despite never having been overweight. He has often complianed of aches and pains and bone/muscle aches etc. He had oshgood schlatters as a teenager. He has week wrists, despite being so large - we used to try and get him to chop wood, but he ended up at the doctors with a very sprained wrist.

My daughter - she has been ill with a mystery debilitating illness, that mainly attacked her digestive system and tonsils - bed bound and lost over a year of school - 4 years on much better, but still has health issues. She has hypermobile joints, but is not talllike her brother.

I'm wondering if there is some way of being genetically tested as a family (or individually) to see if these disorders come up? I mean a definitive test, not just a possibility test.

Much to think about Meryl.
take care, Justyx

@ justy,
Congenital heart issues occur in Loeys-Dietz Syndrome, as do gut issues. PDA is specifically mentioned here:

http://www.ncbi.nlm.nih.gov/pubmed/22734312

 

[merylg]

Loeys-Dietz Syndrome information Video

http://prettyill.com/videos/watch/loeys_dietz_syndrome

 

[Gavman]

Meryl, I'm not sure tmg and glycine have the same benefits. Tmg is attached to three methyl groups, dmg to 2.
As the standalone glycine as amino acid, I think is more likely to help with connective tissues outside methyl groups. I could be wrong but I found the collagen supplement was great for my flexibility while the tmg worked on my energy.

 

[merylg]

Jon's Marfan Syndrome website: http://www.jrmarfan58.com/index.html

 

[merylg]

Just to raise awareness of Aortic Aneurysms, as my father had one & the tendency can run in families. People with genetic connective tissue disorders are also susceptible. Good diagrams & info here:

http://www.aorta.yale.edu/disease/index.aspx

 

[merylg]

For anyone interested in Loeys-Dietz Syndrome as a possible underlying connective tissue disorder:

http://www.loeysdietz.org/ there is an excellent forum here

SMAD3 mutation has recently been associated with Loeys-Dietz Syndrome. Interesting manifestation is early osteo-like arthritis.

http://www.hopkinsmedicine.org/dnadiagnostic/SMAD3.htm

 

[taniaaust1]

Ahh flat feet. I hadnt thought of that one in relation to connective tissue disorders before .. I got diagnosed with that by a podiiatrist when younger and he prescribed shoe inserts due to the foot pain it would give me (when in my 20s. I guess that is another thing I can add to the few things in which a specialist told me he thought showed I had some connective tissue disorder going on. (in my case Im not overly flexible...but rather have other issues with go with connective tissue disorders eg abnormal healing reaction when I got a frozen shoulder and a prolapse.

I suspect thou I dont have EDS, I think I may be carrying the gene for it due to daughter fitting EDS criteria.

 

[merylg]

Radio program...understanding Ehlers-Danlos Syndrome & Marfan Syndrome...people's perspectives...

http://www.blogtalkradio.com/sportcitychefs/2013/06/04/arming-champions-radio

 

[Sea]

merylg did you have your appointment with the geneticist in March? Did anything come from it?

 

[merylg]

merylg did you have your appointment with the geneticist in March? Did anything come from it?

Sea disappointing really, but a start! There wasn't time in one visit to address all my concerns & felt the whole process was inadequate. At the end they (Geneticist & counsellor) said they would be happy to collect blood & dispatch it to US for testing, at my expense. They actually said "Wait a year and it will all be much cheaper"...They were also happy to review other family members at any time.

I see a different clinic soon (Mitochondrial), so will probably discuss it all with the Prof there. I may also go to a more major hospital genetic clinic for another opinion. If I can narrow down what is worth testing for, then it could be affordable.

 

[WillowJ]

If I can narrow down what is worth testing for, then it could be affordable.

this seems like something they should be able to help you more with. I hope you're able to get better help. glad you've made a start.

 

[John H Wolfe]

Interesting. This is pretty much the basis for Dr. Rowe's current working hypothesis as well as my own:

1) Aetiology: ME/CFS is the descriptor applied to the symptomatological manifestation of advanced Neural Hyper-Sensitivity Syndrome (NHSS), typically arising among people with:​

• Neurodynamic restriction e.g. dorsal defect, hypermobility, connective tissue disorder
  • A Hyper-inflammatory predisposition e.g. allergies, sensitivities, asthma, eczema

 

[merylg]

http://health.usnews.com/health-new...ndition-may-yield-clues-to-cause-of-allergies

 

[EnduringAngel]

Dr Byron Hyde in his book mentions the link between ME and connective tissue probs, esp EDS3.
Professor Rodney Grahame mentioned above is Europes top EDS person, he works in UCH London.
You can be genetically tested in the UK for four out of 5 types od EDS. EDS3 is the same as hypermobility syndrome, but they have not yet found the gene for it.

When I saw him he said I had marfan type features but I am not tall. I just have big hands and feet.
Flat feet can be a symptom of EDS3, as can stretch marks, high arch palate in mouth, POTS and gastroparesis.

 

[Allyson]

One of the things that makes me different from many is huge hands - they would fit on someone much taller. That includes long fingers. I wonder if that implies there might be a wide range of connective tissues disorders associated with ME?

long limbs and fingers are definitely associated with Marfan's Alex....I thin there I stll much research to be done into CTDs so more will become know about them soon, I hope.

cheers,



Ally

 

[Allyson]

Dr Byron Hyde in his book mentions the link between ME and connective tissue probs, esp EDS3.
Professor Rodney Grahame mentioned above is Europes top EDS person, he works in UCH London.
You can be genetically tested in the UK for four out of 5 types od EDS. EDS3 is the same as hypermobility syndrome, but they have not yet found the gene for it.

When I saw him he said I had marfan type features but I am not tall. I just have big hands and feet.
Flat feet can be a symptom of EDS3, as can stretch marks, high arch palate in mouth, POTS and gastroparesis.

you are quite right Angel - also IBS and reflux and fatigue are ES symptoms....in fact as many symptoms as ME has it seems

this article is useful with more symptoms and pics


http://downloads.hindawi.com/journals/isrn.dermatology/2012/751768.pdf


Ally