In this episode we will hear from Michelle who lives with myasthenia gravis. Myasthenia gravis (sometimes abbreviated to MG) is a chronic autoimmune condition that cause neuromuscular disorders, which are primarily characterized by muscle weakness and muscle fatigue. The condition can vary in severity between individuals, and in an individual the symptoms can also fluctuate with relapses and remissions.
Read MoreIn this episode we will hear from Rhys who lives with Superficial Siderosis. Superficial hemosiderosis of the central nervous system is a very rare disease of the brain resulting from chronic iron deposition in neuronal tissues associated with cerebrospinal fluid. Superficial siderosis is characterised by many symptoms resulting from damage to the brain.
Read MoreIn this episode we will hear from Michelle who lives with Behcet's disease. Behcet's disease (or syndrome), is a rare disorder that causes blood vessel inflammation throughout your body. Those with the disease can experience numerous symptoms that can seem unrelated at first, and can include mouth sores, eye inflammation, skin rashes and lesions, and genital sores.
Read MoreIn this episode we will hear from Abigail who lives with SAPHO syndrome. SAPHO syndrome is a chronic disorder that involves the skin, bone, and joints. SAPHO syndrome was given its acronymic name based on the presence of synovitis, acne, pustulosis, hyperostosis, and osteitis in patients. SAPHO syndrome causes inflammation of joints with pain, and those living with SAPHO syndrome often live with chronic pain.
Read MoreIn this episode we will hear from Abigail who lives with SAPHO syndrome. SAPHO syndrome is a chronic disorder that involves the skin, bone, and joints. SAPHO syndrome was given its acronymic name based on the presence of synovitis, acne, pustulosis, hyperostosis, and osteitis in patients. SAPHO syndrome causes inflammation of joints with pain, and those living with SAPHO syndrome often live with chronic pain.
Read MoreIn this episode we will hear from Bethan who’s daughter Florence has been diagnosed with Mosaic trisomy 8, a chromosomal abnormality that can affect many parts of the body. In individuals with mosaic trisomy 8, some of the body's cells have three copies of chromosome 8 (trisomy), while other cells have the usual two copies of this chromosome. Children with trisomy 8 mosaicism have a characteristic and recognisable pattern of developmental abnormalities which can include moderate to severe learning difficulties, variable growth patterns and many musculoskeletal, visceral, and eye abnormalities.
Read MoreAs part of the Days of Rare exhibition Caroline spoke to Same but Different about her Behçet’s disease diagnosis. Caroline was diagnosed with a Behçet’s disease after she started experiencing problems with her vision. The main symptoms of Behçet's disease include painful eye conditions and blurred vision, skin lesions, ulcers and stiff and swollen joints.
Read MoreIn this episode we will hear from Christina who lives with a neuroendocrine tumour, a rare tumour that can develop in many different organs of the body. They usually grow slowly over many years, but there are fast growing forms too. The symptoms of a neuroendocrine tumour depend on where in the body it is and what hormones it produces. Some tumours lead to abnormally large amounts of hormones being released into the bloodstream. These are known as "functioning tumours" and can cause symptoms such as diarrhoea, flushing, cramps, wheezing, low blood sugar (hypoglycaemia), changes in blood pressure and heart problems.
Read MoreIn this episode we will hear from fifteen year old Tayen, who lives with Hypohidrotic ectodermal dysplasia, which is 1 of about 150 types of ectodermal dysplasia. Most people with hyperhidrotic ectodermal dysplasia have a reduced ability to sweat and struggle to regulate their body temperature, which is one of the symptoms Tayen has to manage.
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