Abstract Introduction Over a decade ago Joanna Fanos outlined the difficulties for the “first families”, children with diseases diagnosed at birth with new genetic testing, with chronic and grim prognoses, cures yet undiscovered. Ninety percent of the more than 30,000 with cystic fibrosis in this country, have a “cure”. The remaining ten per cent are predominantly Hispanic and Black and the need to consume their family’s day with early morning awakenings before school for inhaled Pulmozyme, hypertonic saline, high frequency chest wall oscillation, and missed school due to hospitalization continues. The need for the quarterly visits to the CF Center teams of nurses, dietitians, physical therapists, social workers, nurses, and specialty physicians is not altered. Through a Cystic Fibrosis Foundation Research Development Program grant our rural CF Center was able to interact with the Cedars Sinai facility for induced pluripotential stem cell placement on a “nose on a chip”. Description of Case The patient is a 19 year old Hispanic male with Class 1 mutation R75X-R75X. His sister had died at age 8 in Mexico and the parents were reluctant to seek care for the two brothers other than a curandero and alternative medicines from Mexico. Child Protective Services became involved and a hospital and social network team worked with the parents. A blue tooth device was placed in the VEST and pharmacy fill rates and home visits ensued. The relentless procession of the disease in the face of no alternative led to the proposal in conjunction with Cedars research team. The patient was transported with a Spanish speaking driver with the reluctant mother. A tour of the lab and understanding of the team working for her son led to consent to obtain nasal cells. Social Determinants Of Health showed low Childhood Opportunity Index and high Area Deprivation Index. ICE became an issue for clinic visits. A combination of five medications yielded production of CFTR in the “nose on a chip”. Discussion These “last families”, newborn genetic screening identifying them from birth as “non-responders” to highly effective modulator therapy, are predominantly Hispanic and Black. The Cystic Fibrosis Foundation Registry now has to describe a different course for responders, non-responders, and lung transplant. The need to “fight for a cure” has been diminished for the majority of the patients and their families. As physicians, we need to be open to these new therapies, communicate with our patients as they develop. This abstract is funded by: Cystic Fibrosis Foundation Research Development Program
Landon et al. (Fri,) studied this question.