What Disease Does Celine Have?
Celine is suffering from a rare genetic disorder called Ehlers-Danlos Syndrome (EDS). EDS is a group of inherited disorders that affects connective tissues in the body. These tissues play a crucial role in supporting anchoring organs muscles bones to each other.
Symptoms Types of EDS
Celine’s type of EDS is known as the hypermobile type which is characterized by joint hypermobility skin that is easily bruised scars easily chronic joint pain. Other types of EDS include classical vascular kyphoscoliotic arthrochalasia dermatosporaxis.
In addition to joint hypermobility typical symptoms of EDS include:
- Fragile skin that tears easily
- Joint dislocations subluxations (partial dislocations)
- Chronic joint pain stiffness
- Easy bruising
- Delayed wound healing
- Heart valve problems
- Gastrointestinal issues
- Autonomic dysfunction (dysautonomia)
Diagnosis Treatment of EDS
EDS is diagnosed through a physical exam genetic testing. A medical professional will evaluate clinical features such as skin hyperextensibility joint hypermobility tissue fragility along with tests to rule out other conditions with similar symptoms.
Management of EDS is centered around symptom relief prevention of complications. This typically involves a multidisciplinary approach with specialists such as geneticists rheumatologists physiotherapists or occupational therapists. Treatment options may include:
- Pain management with nonsteroidal anti-inflammatory drugs (NSAIDs) or other pain medication
- Joint support with braces or physical therapy
- Nutritional supplements like vitamin C collagen may be recommended to support connective tissue health
- Preventive care to avoid injury including avoiding activities that may cause joint dislocation
- Emotional support as living with a chronic condition can be challenging
Although there is no cure for EDS with proper management individuals with the condition can live fulfilling lives. Celine lives with her condition manages her symptoms with support from her medical team family loved ones. We hope this overview helps in increasing awareness of EDS.
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