RARE DISEASE
RARE DISEASE HOW TO DIAGNOSE RARE DISEASES AND HOW TO TREAT THEM! 1. SICKLE cell anemia is diagnosed with a physical exam, blood test and genetics test. TREATMENT: there is no single cure for sickle cell disease, but there are treatments that can help manage symptoms; it included medication, blood transfusion, and stem cell transplant. The medicine: 1: hydroxyurea (droxiahydrea) it reduced the frequency of pain crisis and might reduce the need for transfusion. 2: Crizantizima (Adaveo) this is medicine, given by injection, can help reducing pain crisis in adults and child older than 16 yrs . 3: Voxelotor ( oxbryta), : this medicine is used to treat sickle cell disease in adults and children older than 12 yrs. 2. Ehlers Danlos syndrome Diagnosis EDS is primarily made through a physical examination assessing for symptoms like extremely loose joints, stretchy or fragile skin, and a detailed family history. TREATMENT: there is no cure for Ehlers Danlos syndrome, but treatments can help you manage your symptoms and prevent further complications. Medication are: 1: acetaminophen 2: ibuprofen 3: naproxen sodium. 3 HEMOPHILIA diagnosis is using a combination of blood test family history, and a physical exam . TREATMENT : the main treatment for serve hemophilia involves replacing the clotting factor you need through a tube in a vein. Medication are: -Emicizumab(Hemlibra) and Advise. 4. Epilepsy DIAGNOSIS The specialist may suggest having a test to check your brain activity called an electroencephalogram (EEG), or a brain scan to look for any problem in your brain. But if these tests do not show anything, it’s still possible you have epilepsy, and you may be diagnosed just based on your symptoms. NURSING MANAGEMENT OF EPILEPSY (During tonic-clonic onset epileptic seizure) •Alert: Notify the doctor on duty. •Administer oxygen •Guarantee the patency of the airways;•Protect the patient •Identify that it is a tonic-clonic epileptic seizure. EPILEPSY MEDICATION Common types are:(1)Topiramate(2)Levetiracetam(3)Lamotrigine (4)Sodium valproate(5)Carbamazepine VAIPROIC ACID (Depakote): this is a standard broad-spectrum AED (treats all types of seizure) and no other AED is more effective for generalized seizure types and it’s the best medicine for the treatment of epilepsy