Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by articular hypermobility, skin extensibility and tissue fragility. Individuals with EDS have a defect in their connective tissue. It is this tissue that provides support to many body parts such as the skin, muscles, ligaments and organs. The fragile skin and unstable joints found in EDS are due to faulty collagen. Collagen is a protein that acts like glue in the body adding strength and elasticity to connective tissue.
There are six major types of EDS. The different types of EDS are classified according to the signs and symptoms that are manifested. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not have a child with Classical Type EDS.
I have the Hypermobility Type - formerly known as EDS Type III.
Hypermobility of joints is the dominant clinical manifestation, affecting spine, hips, elbows, knees, fingers, toes etc. Recurring joint dislocations are common occurrences. Certain joints, such as the shoulder, patella, and temporo-mandibular joint (TMJ - jaw) dislocate frequently. The skin is hyperextensible (stretchy) and/or smooth velvety skin) as well as having a tendency to bruise easily. Chronic joint and limb pain is thus a common complaint amongst individuals with the Hypermobility Type, although x-rays of the skeletal system show up as normal. Musculo-skeletal pain presents early in the individual's life, is chronic and may be debilitating.
To date, no distinctive biochemical collagen finding has been identified by researchers. This type of EDS is inherited in an autosomal dominant* manner.
* Autosomal Dominant
In Autosomal Dominant inheritance, only one member of the gene pair needs to be functioning improperly for an individual to be affected. When an affected person has children, there is a 50% chance with each pregnancy that the parent will pass on the changed gene to his/her children. Therefore there is a 50–50 chance that the child will be affected, regardless of the sex of the child. A person who does not carry the changed gene is not affected and can not pass the gene on to his/her children. EDS types that are inherited in the autosomal dominant fashion include the Classical Type, Hypermobility Type, Vascular Type, and Arthrochalasia Type.
The Role of Your Specialist - Finding a GOOD Rheumatologist and Establishing a Working Relationship
I cannot express how important this is. Prior to discovering Zeus, I had been to a number of "eminent" physicians, diagnosticians and rheumatologists, without a diagnosis being made or any kind of treatment suggested. I doubt this is usual - most sufferers would be identified fairly early on, particularly those with the Hypermobility Type as symptoms present so early in life.
Jules' Rule Number One for finding and working in with your rheumatologist - this goes for all specialists - is, Take No Shit. If the specialist you visit is unhelpful, patronising, rushes you out the door after 8.5 minutes regardless if your questions have been addressed and your understanding is adequate, or suggests something plain daft (one of those "eminent" rheumatologists I mentioned advised I try aromatherapy. No I'm not kidding, not physical therapy, or hydrotherapy - both good options - but nice smelling stuff? Yeah riiiiiight. That guy never got his account paid, I can tell you) then give her/him the finger and try again. And again. And again, if necessary. Yes, some patients only want to hear what they want to hear, that happens, but most sensible patients and good specialists will deal with that aspect should it arise.
Once you've found your specialist, set about (a) putting in place the various modes of attack erm treatment, and (b) gathering together a support team). The two main modes of treatment, as I've mentioned elsewhere, are extensive and thorough pain management, and physical therapy. Pain management, as I see it, comes under two categories; having a range of medications to treat your various ails - in my case I have an arsenal of painkillers, muscle relaxants, diuretics (because many soft tissue conditions cause and are exacerbated by fluid retention), and so on. The second category is "alternative" therapies - and NO I do not refer specifically to aromatherapy, but also relaxation and meditation techniques and so on, as anything that helps you relax is helpful. Pain is fucking scary shit, right there, and being scared and stressed and panicked out of your tiny mind is not productive. Topical applications of heat packs, hot towels or electric heating pads are good, as are long warm baths (so long as you're not cramped), showers or jacuzzis. Maybe a little gentle stretching if you feel up to it, but don't push it. Comfort comfort comfort is the key (and on that point, make damn sure your home and workstation/chair/etc at work are ergonomically sound and fitted to you, personally).
Your support team should include a good GP if you don't have a decent one already, to be appraised of your condition and it's various presentations, to provide medical support and intervention if the specialist is unavailable and you need help, now, badly; a physiotherapist, preferably one suggested by the rheumatologist who can work with you both in designing and supervising your physical rehabilitation programme; and put you in contact with accredited human movement/rehabilitation personal trainers, support groups, other sufferers and so on who can provide additional support.
Physical Therapy
coming soon ...
Links
Ehlers-Danlos National Foundation (USA)
Ehlers-Danlos Support Group of Australia
Rochelle Waite
PO Box 106
Marulan NSW 2579
Australia
Telephone/Fax (02) 48441 1111