The family had meetings with all members of the CF team a doctor, a nurse, a social worker, a physiotherapist and a dietician.Fortunately, Alder Hey Hospital is not far away from their home in Merseyside.Every nine weeks, Miriam is taken to the CF clinic at Alder Hey Hospital.
The family had meetings with all members of the CF team a doctor, a nurse, a social worker, a physiotherapist and a dietician.
She has spent five periods in hospital receiving such treatment, which usually lasts about a fortnight.
Last year she had a "Porthacath" inserted so that she could receive future treatments at home this has to be cleaned by the CF nurse at regular intervals.
These include cystic fibrosis, Marfan syndrome, heart failure, neuropsychiatric diseases, and diabetes.
Three cases/lessons focus specifically on how genomic medicine informs testing for and treatment of cancer.
To counter the risk of cross-infection, there are now individual cubicles in the CF clinic and ward at Alder Hey Hospital and strict hygiene standards apply.
Miriam is no longer allowed to play or mix with other children with CF as a consequence of the risks of cross-infection.
A series of case studies will be used to illustrate principles of how genetics are being brought to bear on refining diagnoses and on personalizing treatment in rare and common diseases.
The ethical and operational issues around how to implement large scale genomic sequencing in clinical practice will be addressed.
(She has become more co-operative about submitting to this, but she hasnt always been! She then has to take a variety of antibiotics which get changed from time-to-time fluoride and vitamins (she will be taking these all her life).
Not surprisingly, all these medications have side effects Miriam can be fairly hyperactive, she is always hot, and it takes her a long time to get to sleep each night.