Winter 2018/19 RARE Blood
Rare blood disorders
‘This diagnosis is not a life sentence’
Sandra Beltran explains her ‘lessons learnt’ raising a son with Alagille syndrome and a liver transplant: the challenges, lessons, and partnerships born from it. Alagille syndrome is an autosomal dominant disorder, which for most people with Alagille syndrome causes a mutation, or defect, in the Jagged1 (JAG1( gene. Mutations in the NOTCH2 gene are seen in less than 1 percent of people with Alagille syndrome.
‘Ultra-rare blood disorder paroxysmal nocturnal haemoglobinuria – Suzanne’s story’
Suzanne Morris was only 10 years old when she started feeling breathless all the time and noticing bruises all over her body. Increasing symptoms triggered her doctor to explore further which led to her being diagnosed with aplastic anaemia, and being told she had only three months to live..
‘This diagnosis is not a life sentence’
Sandra Beltran explains her ‘lessons learnt’ raising a son with Alagille syndrome and a liver transplant: the challenges, lessons, and partnerships born from it. Alagille syndrome is an autosomal dominant disorder, which for most people with Alagille syndrome causes a mutation, or defect, in the Jagged1 (JAG1( gene. Mutations in the NOTCH2 gene are seen in less than 1 percent of people with Alagille syndrome.
‘Ultra-rare blood disorder paroxysmal nocturnal haemoglobinuria – Suzanne’s story’
Suzanne Morris was only 10 years old when she started feeling breathless all the time and noticing bruises all over her body. Increasing symptoms triggered her doctor to explore further which led to her being diagnosed with aplastic anaemia, and being told she had only three months to live..
‘This diagnosis is not a life sentence’
Sandra Beltran explains her ‘lessons learnt’ raising a son with Alagille syndrome and a liver transplant: the challenges, lessons, and partnerships born from it. Alagille syndrome is an autosomal dominant disorder, which for most people with Alagille syndrome causes a mutation, or defect, in the Jagged1 (JAG1( gene. Mutations in the NOTCH2 gene are seen in less than 1 percent of people with Alagille syndrome.
‘Ultra-rare blood disorder paroxysmal nocturnal haemoglobinuria – Suzanne’s story’
Suzanne Morris was only 10 years old when she started feeling breathless all the time and noticing bruises all over her body. Increasing symptoms triggered her doctor to explore further which led to her being diagnosed with aplastic anaemia, and being told she had only three months to live..
‘This diagnosis is not a life sentence’
Sandra Beltran explains her ‘lessons learnt’ raising a son with Alagille syndrome and a liver transplant: the challenges, lessons, and partnerships born from it. Alagille syndrome is an autosomal dominant disorder, which for most people with Alagille syndrome causes a mutation, or defect, in the Jagged1 (JAG1( gene. Mutations in the NOTCH2 gene are seen in less than 1 percent of people with Alagille syndrome.
‘Ultra-rare blood disorder paroxysmal nocturnal haemoglobinuria – Suzanne’s story’
Suzanne Morris was only 10 years old when she started feeling breathless all the time and noticing bruises all over her body. Increasing symptoms triggered her doctor to explore further which led to her being diagnosed with aplastic anaemia, and being told she had only three months to live..
