Q: Magazine Issue 14 | August 2023 Advances and answers in pediatric health | Page 8

Crohn ’ s disease gut biopsy
team in the Allergy and Immunology Center at Children ’ s Colorado . The group was also recently recognized by the Federation of Clinical Immunology Studies ( FOCIS ) as an official center of excellence for advancing multidisciplinary scientific and clinical innovations . In addition to patient care and advancing discovery through research , education is a top priority of the immunology team . Drs . Hsieh and Dutmer have increased the integration of immunology into the curriculum at the University of Colorado School of Medicine on the Anschutz Medical Campus .
MAKING AN IMPACT : NEWBORN SCREENING
The specialty expertise of Drs . Hsieh , Dutmer and their team is not just benefiting the patients they treat at Children ’ s Colorado , but also babies born throughout Colorado and Wyoming . The immunology team manages the newborn screening program for severe combined immunodeficiency — a life-threatening disease that can be cured by bone marrow transplant . Through this screening , they not only identify patients with severe combined immunodeficiency , but also another rare disease called congenital athymia , where a child is born without a thymus , an essential organ of the immune system . Without proper treatment , the life expectancy of kids with congenital athymia is typically only two years .
Through newborn screening , the team has identified children with congenital athymia since 2017 , but cultured thymus tissue implantations were not approved yet by the Food and Drug
Administration ( FDA ). Drs . Hsieh and Dutmer worked on research papers to collect data , showcase the severity of the disease , communicate the economic implications and advocate for a treatment to be approved ( 1 ).
In 2021 , the FDA approved the first thymus tissue product , and Dr . Dutmer is responsible for treating two of the first 10 patients in the country with this treatment .
ACROSS THE LIFESPAN AND AROUND THE WORLD
This specialized , rare disease research is not just limited to children . Because these extremely rare conditions can often be genetic , sometimes the discovery of a condition in a child can lead to identifying other family members with the same condition . For Dr . Dutmer , this means seeing and treating multiple generations of a family who all have the same disease .
“ There are scenarios where I take care of the grandparent , the
parent and the child , so it can be multigenerational ,” Dr . Dutmer says . “ We have the ability to assess treatments over a lifespan . And maybe they work differently at different ages , but I think that perspective across the lifespan is unique in rare diseases .”
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