SPR logo Patient Stories



"We are here for the patients."

At the end of the day, our clinical, advocacy, and research efforts are ultimately for the children and adolescents to whom we provide care. In this section, we would like to feature some patient and physician stories that illustrate the work of our SPR members and their amazing patients and families. This is a place to share knowledge about less common diagnoses or uncommon presentations of certain diseases from both the physician and patient/family perspectives. We welcome new submissions to highlight some of the great work of our SPR members.

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Improving the NICU Environment

In our clinical work as pediatricians, we often care for families in crisis.  There are few things as stressful to a family as a sick child; parents often feel helpless in the face of severe pediatric illness, particularly when the child is hospitalized for a prolonged period during a developmentally vulnerable time.  As a clinical neonatologist, I see this struggle daily as families work to bond with their infant and initiate a parenting relationship in an environment where nurturing is hindered by the clinical needs of the baby. 

My research interests lie in the field of environmental health. Our group runs a preterm birth cohort study focused on identifying sub-optimal environmental exposures during the NICU stay with the aim of improving the physical and social environment to improve the long-term neurobehavioral wellbeing of preterm infants.

Through this study, I have had the privilege to follow NICU families from the birth of their preterm infant(s) through early childhood.  Through serial outcome assessments we are able to identify each child’s developmental strengths and weaknesses.  This not only provides invaluable objective outcome data to pair with our NICU-based exposure assessments – the foundation for evaluating the impact of early life exposures – but also gives meaningful information to families as they guide their children through early childhood.  Although our study is nominally “low-risk, low-benefit” for individual families, we find that families appreciate and benefit from the extra attention, detailed developmental assessments, and continued contact with our NICU study team for years after NICU discharge.

This symbiotic relationship is a great strength of neurodevelopmental outcome studies in neonatology.  Our research team gains the necessary information to improve the quality of NICU care while our participant families’ time and energy is repaid with a deeper understanding of their developing child.  An improved knowledge base and objective data can be very important to families as children approach school age – to set the stage for improved intervention strategies to address delays early, and work with families and school systems to maximize a child’s early social and academic success. This role facilitating parents’ ability to advocate for their child’s individual needs is an unanticipated consequence of the research we conduct, but perhaps our most visibly important role to study families.

Annemarie Stroustrup, MD, MPH
Associate Professor of Newborn Medicine
Icahn School of Medicine at Mount Sinai
PI, the NICU-HEALTH study


The Value of NICU Outcomes Research

I am not a writer; however, when you have to say something from the heart it naturally comes out understood.  In regards to working with the Mt Sinai team during these past few years, I have gained knowledge, insight and confidence in helping my children's future and the future of other children who will benefit from studies like these.  

My twins were born before 30 weeks gestation and all of the support they received and additional assistance in reporting on their progress has helped me to better prepare them for their future as well as the hard work ahead to get them on track.  I couldn't have done that without the Mt.Sinai team along the way.  As they are preparing for Pre-Kindergarten - I am going with a progress report that will help assess their class level and proper support needed - all because I participated in the studies they are doing to benefit all children.  

As they say in life - nothing is free - but this program has defied the odds of getting something for barely anything but some of our time.  My family is truly appreciative of all the support and assistance over these formative years for the boys and we are truly grateful for the opportunity to participate in the program/studies.

The Kone family

One Family’s Experience with Pseudohypoparathyroidism

Lauren was born on October 12, 1999 via caesarean section after complications due to a nuchal cord. She weighed 6 pounds 14 ounces, and was 19 inches long!

From the very beginning she appeared a little “different” due to her head size which appeared a bit larger than normal.
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  Physician Scientist’s Perspective on Pseudohypoparathyroidism Type 1a

The rising prevalence of childhood obesity makes it difficult to accurately diagnose rare medical conditions that present with obesity.

This case features a rare form of syndromic obesity caused by a condition called pseudohypoparathyroidism type 1a, which results from a genetic mutation that impairs the activity of several peptide hormones such as growth hormone releasing hormone, parathyroid hormone, glucagon, luteinizing hormone, follicle stimulating hormone, and thyroid stimulating hormone.
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