Nicholas Volker
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Nicholas Volker (born October 26, 2004) is the first child whose treatment was based on a diagnosis determined by DNA sequencing[1]. The medical diagnostic story was described in the book "One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine."[2]
When Nicholas Zane Fernando Santiago Volker was two years old, he began to develop fistulas in his intestines and chronic infections. He underwent more than 100 surgeries, including having his colon removed. Through two years of searching for a medical diagnosis, his doctors at Children's Hospital of Wisconsin and Medical College of Wisconsin worked to sequence his exome to discover genetic mutations that could explain and ultimately treat his condition. Through genomic sequencing, Volker was diagnosed with two rare diseases caused by a single gene mutation.[3]
X-linked lymphoproliferative disease (XLP)[4] is an immune system disorder found in fewer than one in a million children. Because it is found on the X chromosome, the disease exists primarily only in males. The disease can produce an exaggerated immune response to the Epstein–Barr virus, a common virus. XLP can be treated by a bone marrow transplant.
The second disease, caused by a mutation in the XIAP (X-linked inhibitor of apoptosis) gene, had never before been recorded in medical history. Volker had an unknown version of a rare, known disease.
In 2009, Volker underwent a transplant with cord blood to cure his diseases. After a series of early complications that ultimately resolved, the transplant was deemed successful. Since then, clinical genomic sequencing has improved and is becoming more common to help diagnose and treat patients.
References
- ↑ Herper, Matt (Jan. 5, 2011). The First Child Saved By DNA Sequencing Forbes. Retrieved August 14, 2021.
- ↑ Johnson, Mark; Gallagher, Kathleen (2017). One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine. New York. p. 256. ISBN 9781451661330. Retrieved 14 August 2021.
- ↑ Johnson, Mark; Gallagher, Kathleen (Sept. 29, 2020). One in a billion: Armed with a mysterious answer, Nicholas' doctors and parents weigh a risky treatment Milwaukee Journal Sentinel Retrieved August 14, 2021.
- ↑ MedlinePlus (X-linked lymphoproliferative disease National Institutes of Health. Retrieved August 14, 2021.
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