What is EDS
Ehlers-Danlos (EDS) is a group of inherited connective tissue disorders. Each type has different genetic causes and varied in how they impact the body. They are generally characterised by generalised joint hypermobility ("double-jointedness"), skin hyperextensibility (stretchy skin), and fragile tissue.
There are 13 known subtypes as of late 2017. Each subtype has a set of physical signs and symptoms, but there is substantial overlap between the types. A doctor specialised in genetics will match up the patient's signs and symptoms for the different types and will perform a genetic blood test to confirm the type (unless hypermobile type which has n known genetic marker).
Around 13% of people with Chiari also have Ehlers-Danlos (usually hypermobile type), which impacts treatment (See: Cervical Instability). People with EDS also tend to have other co-morbidities such as Postural Orthostatic Tachycardia, Occult Tethered Cord , MCAD, increased/decreased intracranial pressure etc.
Australian Ehlers-Danlos Association
Diagnosis in Australia
Ehlers-Danlos (EDS) is a genetic disorder, so the main specialist used for diagnosis is a geneticist. A geneticist will require a referral from your GP or any other specialists. Geneticists are found in both public and/or private clinics. They will review your medical history and your families medical history to help narrow down the possible diagnosis and which type of testing is required. Currently, all types EXCEPT the hypermobile type (hEDS) are diagnosed by genetic screening. When done privately this can incur some out of pocket expenses that can be upwards of $7000. In the public system, genetic screening may be done for free via medicare.
The most common type, Hypermobile EDS, currently has no known genetic marker to test for. So the diagnosis is done via a clinical screening based on hEDS criteria. This can be done by geneticists and/or rheumatologists. It is always recommended to try and see one with an interest in EDS/HSD (see Medical Professional Directory).
Treatment in Australia
EDS requires a multidisciplinary approach as there is no one type of specialist who takes care of all the issues related to EDS. Specialists that may be required are listed below, but this is not an exhaustive list:
Geneticist - Diagnosis,
Rheumatologist - Diagnosis and coordination of specialists,
Cardiologist - To check for potential cardiac-related issues and treat cardiovascular symptoms, POTS etc
Podiatrist - Foot related issues
Immunologist - MCAS, immune deficiencies
Neurologist - Chiari, migraines, CCI, IIH etc..
Neurosurgeon - Chiari, migraines, CCI, IIH etc..
Physiotherapist - Conditioning of joints, Muldowny Protocol
Occupational Therapist - May include a hand OT to help avoid dislocations etc
Exercise Physiologist - Improve joint/muscle strength and conditioning
General Physician - Chronic condition specialists.
Pain Specialists - Pain relief
Orthopaedic Surgeons - Joint surgery
Paediatricians - For children
Sleep Specialists - sleep apnoea, insomnia etc.
Dentist - EDS can cause specific dental related issues.
Cosmetic Surgeon - Scar related issues etc.
Gastroenterologist - Gastroparesis etc.
Dietician - FODMAP diet etc.
Rehabilitation Specialist - assistance after surgery/injury
Help in Australia
There are several Australia, New Zealand and worldwide support groups on Facebook to find help and information. With a few groups who focus on specific aspects related to EDS. Most are closed groups, but it is always good to check the privacy of support groups and read their rules.
There are also some public pages that post general information that can be shared with your loved ones and on your Facebook.
There is also Zebras Australia which is a facility in Melbourne focused on helping symptoms of Ehlers-Danlos through programs and professionals helping with fatigue, conditioning etc.
Medical Professionals Directory from The Ehlers-Danlos Society
This page is only affiliated with the support group EDS Zebras Australia and does not recommend or endorse any specific groups listed. They are just collated for ease and when joining any group or seeing any professional/program one should do their own research to make sure it's the best for their specific needs.