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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.
At 6 pounds 12 ounces, she was lighter than her sisters, Rebekah, and Hannah, and she had difficulty putting weight on after she was born. After a spell in hospital in December 1996, when she was suffering from bronchitis, it was thought that she had asthma but my sister-in-law, Sue, who is a nurse, was already beginning to suspect that Miriam had Cystic Fibrosis.
On the one hand, with no history of Cystic Fibrosis in either her family or my brother, Tims family, this seemed impossible but there was no other explanation of the symptoms which Miriam had.
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.
(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.
Sue & Tim have been trained to administer these antibiotics although for certain treatments she may still have to go into hospital (as she did on one occasion last year).
The threat of infection is an ever-constant danger most particularly from one CF patient to another.
How to choose among drug therapies based on genetic factors 3.
That the functional consequences of the vast majority of genetic variants discovered by modern sequencing are unknown.