Trisomy 18 syndrome, also known as Edwards syndrome, is the second most common autosomal chromosome syndrome after Down syndrome. Trisomy 18 is a serious medical disorder due to the increased occurrence of structural defects, the high neonatal and infant mortality, and the disabilities observed in older children. Interventions, including cardiac surgery, remain controversial, and the traditional approach is to pursue pure comfort care. While the medical challenges have been well-characterized, there are scant data on the parental views and perspective of the lived experience of rearing a child with trisomy 18. Knowledge of the parental viewpoints can help clinicians guide families through decision-making. Our aim was to identify parents' perspectives by analyzing a series of narratives. In this qualitative study, we collected 46 parent narratives at the 2015 and 2016 conferences of the Support Organization for Trisomy 18 & 13 (SOFT). The participants were asked to "Tell us a story about your experience." Inductive content analysis and close reading were used to identify themes from the stories. Dedoose, a web-based application to analyze qualitative data, was used to code themes more systematically. Of the identified themes, the most common included Impact of trisomy 18 diagnosis and Surpassing expectations. Other themes included Support from professionals, A child, not a diagnosis, and Trust/lack of trust. We examined the voice and the perspectives of the parents in their challenges in caring for their children with this life-limiting condition. The exploration of the themes can ideally guide clinicians in their approach to the counseling and care of the child in a shared decision-making approach.

The understanding of phenylketonuria (PKU), guidelines, and treatment landscape have evolved dramatically over the decades since newborn screen implementation. We capture this rich history from the stories and experiences of a multidisciplinary provider team from Boston Children's Hospital's PKU Clinic, who treated PKU from the early years of newborn screening and who worked together for over 40 years.

This piece narrates the journey of Maria (name of the mother has been altered to protect the family's privacy), a new mother confronting her newborn's unexpected diagnosis of very long chain acyl-CoA dehydrogenase (VLCAD) deficiency, despite undergoing proactive genetic carrier screening within a consanguineous marriage. It highlights the emotional and systemic challenges arising from the lack of diversity in genetic databases, which, in this case, failed to detect pathogenic variants in Maria and her husband. Maria's story sheds light on situations where a masked variant of uncertain significance (VUS) necessitates consultation with a trained genetics specialist and underscores the urgent need for a more equitable healthcare system.

Two lives meet and a spark ignites One tiny traveller makes an epic journey powered by its tail to meet its partner, joining energy forces to make a new life Starting out with two sets of cookbooks New versions from many combinations and permutations 20,000+ recipes 3 billion letters All the necessary instructions for structure and function of a never-to-be repeated design First, form a ball, attach it to the wall and establish a lifeline Then, the circuitry A plate rolls into a tube, zipping up from the middle in both directions above all, a walnut-shaped master control centre with distribution board in four layers electrical cables carrying signals to outlying regions and back again specialized sensors to convert light to images with packets of colour six hillocks merge and reshape like playdough to form the sound receiver plugging into a seashell Real, not artificial, intelligence is activated out of the ether Two tubes merge and then loop to fashion a pump partitioning with a flap and valves with temporary diversion of flow and a metronome to keep the beat Tiny brushes sweep to produce a swirling current as structures rotate and abandon symmetry Four buds push out, forming paddles, cut along the dotted line to form tactile graspers A pit at the top end to create the food receptacle With the ventilation duct veering off fluid pressure pushing out branches and tiny sacs A long passageway to the food processing centre couple with the detox centre mix in a concoction of chemicals A pit at the bottom end to form an outlet tunneling upwards until food processing and solid waste disposal meet Hive off a plumbing system and water filtration plant for liquid waste Add a regeneration centre to ensure the whole process is self-perpetuating Put up the girders and beams constantly remodel as the entire assembly enlarges exponentially Staff with servers for food and gas delivery and roving security guards, able to neutralize the enemy and kill if necessary Cover everything with a waterproof membrane and pores to dissipate heat Continue renovating for nine months Until monumental pressures inexorably force out a unique and wonderfully made MASTERPIECE! Now with such intricately coordinated logistics what could possibly go wrong? There is no data involved in this submission for narrative medicine.

There remains a crucial need to address inequalities in genomic research and include populations from low- and middle-income countries (LMIC). Here we present eight consanguineous families from Pakistan, five with neurodevelopmental disorders (NDDs) and three with neuromuscular disorders (NMDs). Affected individuals were clinically characterized, and genetic variants were identified through exome sequencing (ES), followed by family segregation analysis. Affected individuals in six out of eight families (75%) carried homozygous variants that met ACMG criteria for being pathogenic (in the genes ADGRG1, METTL23, SPG11) or likely pathogenic (in the genes GPAA1, MFN2, SGSH). The remaining two families had homozygous candidate variants in the genes (AP4M1 and FAM126A) associated with phenotypes consistent with their clinical presentations, but the variants did not meet the criteria for pathogenicity and were hence classified as variants of unknown significance. Notably, the variants in ADGRG1, AP4M1, FAM126A, and SGSH did not have prior reports in the literature, demonstrating the importance of including diverse populations in genomic studies. We provide clinical phenotyping along with analyses of ES data that support the utility of ES in making accurate molecular diagnoses in these patients, as well as in unearthing novel variants in known disease-causing genes in underrepresented populations from LMIC.