Your General Practitioner Discuss your concerns and obtain a referral to a specialist at a Rheumatology Ward in a Public Hospital, to attend their Connective Tissue Disorder Outpatient Clinic for review. Be aware not every rheumatologist is equipped and educated to successfully identify and coordinate a sufficient care plan.
Rheumatologist at a Connective Tissue Disorder Outpatient Clinic At this point the Doctor may want to conduct tests or have you seen by other specialists before making decisions or in some cases will confidently be able to make a Clinical diagnosis (based on a clinical assessment), or refer you for a Genetic diagnosis (genetic review & testing by blood sample) for confirmation on a genetic variant defect. The rheumatologist can also make referrals to other specialists and coordinate a care plan before or after review by a Clinical Geneticist.
Consulting a Clinical Geneticist Should you require further review by a Clinical Geneticist they will conduct an interview on your symptoms and family history. The Clinical Geneticist may be able to make a Clinical diagnosis based on symptoms or need to make a Genetic Diagnosis to rule out types of Ehlers-Danlos that predispose patients to a higher rate of fatal symptoms, but all types are at risk and possibility of some kind to fatal symptoms occurring. You can also obtain additional care plan recommendations to take back to the Rheumatologist.
Ongoing Care with the Rheumatologist at the CTD Outpatient Clinic Having a goals list of what symptoms you will tackle by priority with your care team is important. You may end up consulting various specialists through your life as issues arise, or receive check ups to monitor existing issues, and rule out fatal ones that a connective tissue disorder can predispose you to.
Other Health Professionals Because Connective Tissue Disorders are multi systemic, many patients end up consulting a wide variety of health professionals throughout out there life, regular ongoing check ups and consultation may be required to monitor for signs of or the progress of organ complications and specialist management of comorbidities:
Haematologist/Haemophilia & Haemostasis Clinic
Neurologist, Neurosurgeon, Orthopaedic Surgeon
Cardiologist, Endocrinologist, Vascular Surgeon
Oral Specialist, Maxillofacial Surgeon, ENT Surgeon, Opthamologist