chapter  12
12 Pages

- Pathway of pain: Your “normal” baby has a life-threatening disease

BySiân Bentley, Nicola Collins, Mary Jurd, Michele Puckey, Pat Stringer,  and Andrew Bush

Few things can be more devastating for new parents than the realization that their newborn baby, far from being normal, has a life-threatening and life-shortening illness. e detailed screening test protocols, including how to handle disclosure of carrier status, have been discussed in Chapter  10 and the perspective of the family on our approach is described in Chapter 3; in this chapter, we describe our pathway for contacting the parents, conrming the diagnosis, and the rst steps in the lifelong process of learning about cystic brosis (CF). Underpinning the pathway is the literature that nothing is more devastating than delay and uncertainty,1 and so speed is essential. We aim for there to be no more than 30 hours at most between the “period of maximal uncertainty”—i.e., the rst contact with the family and the diagnosis being conrmed or otherwise by a sweat test. e process includes the initial contact by the CF clinical nurse specialist (CNS) with the family, and the home visit at which the news of the screening test and the appointment for the sweat test is given; the visit next day when the diagnosis is usually conrmed; and the education visit a few days later, which commences the lifelong process of CF treatment. e detailed protocols used for the treatment have been published elsewhere (http://www.rbht. nhs.uk/childrencf) and are not described in any detail here.