To all the members of my family who relived many sad memories in order to bring our family and illness to life in this book, especially cousins Val and Mike, Sue and Michael, Phyllis and Mark, Kenny and Joanne, Suzanne and Vinnie, Denise, Richie and Dolly, Meryl, Jeff, Rachel, Marcus, Lizzie, Danny, Abby, Jordan, Rebekah, Rachel, and to my aunts, Joanie, Enid, Kathy, and Ellen.
My love and thanks go to my dear friends Amy Huck, Jason Evege, James Babson, Lisa Switkin, Jackie and Jimmy Shulman, and Wendy Bassin for being so good when I’m falling apart—body and spirit—and for dedicating more time than they might have wanted to on this project. Thank you to Christine Monroe for being an award-winning mother-in-law and champion. Thank you and all my love to Brian, Marny, Marty, Kathy, Aunt Paula, Uncle Phil, Sarah, Debbie, Molly, David, Maribeth, Uncle Jim, Jim and Karen, and T.K. Of course, thank you to Dr. Kricket, Meredith Moore, Barbara, Jon, Suzanne, and the Seidman Lab.
Thank you to Hilary for being a lifelong cheerleader, protector, and now partner in craziness. Thank you to my nieces and nephews, Gabriel, Julia, Addison, and Billy. To my grandmother Shirley—this book would have been impossible without you. I love you, I thank you, and I miss you. To my mom, Rhoda, incalculable thanks for your outstanding PR skills and for being a bottomless, lifelong pit of love. You always knew this story had to be told.
And thank you to my love, Aaron, for just everything.
References
American Association of Clinical Chemistry Website. Lab Tests Online, “Albumin.” Last modified April 8, 2016: https://labtestsonline.org/understanding/analytes/albumin/tab/test/.
AmericanPregnancy.Org Official Website. “First Trimester Screen.” Last updated July 2015: http://americanpregnancy.org/prenatal-testing/first-trimester-screen/.
Amsel, Sheri. “Where Is Your DNA?” Exploring Nature Educational Resource: Life Science, Earth Science, and Physical Science Resource for K-12, accessed March 2015: http://www.exploringnature.org/db/detail.php?dbID=106&detID=2456.
Anand, Geeta. The Cure: How a Father Raised $100 Million and Bucked the Medical Establishment in a Quest to Save His Children. New York: William Morrow Paperbacks, 2009.
Annas, George, J.D., M.P.H., and Sherman Elias, M.D. Genomic Messages: How the Evolving Science of Genetics Affects Our Health, Families, and Future. New York: HarperOne, 2015.
Arney, Kat. “Tracking Down the BRCA Genes (Parts 1 and 2).” Cancer Research UK, February 28–29, 2012.
Assaf, Zoe. “Stanford at the Tech: Understanding Genetics, Ask a Geneticist.” Tech, September 21, 2012.
Baker, Billy. “Research, Marriage Link Singular Duo.” Boston Globe, September 3, 2007.
Bateson, William, and Gregor Mendel. Mendel’s Principles of Heredity. London: Cambridge University Press, 1909.
Bock, Christoph. “Why Are Women Stripy.” I Fucking Love Science via Wikimedia Commons: http://www.iflscience.com/plants-and-animals/why-are-women-stripy.
BreastCancer.Org Official Website. “Mastectomy Risks.” Last updated May 15, 2013: http://www.breastcancer.org/treatment/surgery/mastectomy/risks.
CancerResearchUK.org Official Website. “How Cancer Starts.” Last updated October 27, 2014: http://www.cancerresearchuk.org/about-cancer/what-is-cancer/how-cancer-starts.
Chemical Heritage Foundation Official Website. “James Watson, Francis Crick, Maurice Wilkins and Rosalind Franklin”: http://www.chemheritage.org/discover/online-resources/chemistry-in-history/themes/biomolecules/dna/watson-crick-wilkins-franklin.aspx.
Collins, Francis S., M.D., Ph.D. National Human Genome Research Institute. “World Economic Forum: A Brief Primer on Genetic Testing.” Last updated April 30, 2013: https://www.genome.gov/10506784/.
Cooley, Denton A., M.D. “C. Walton Lillehei, the ‘Father of Open Heart Surgery.’” Science Volunteer, September 28, 1999: http://circ.ahajournals.org/content/100/13/1364.full.
Crewdson, John. “Gene Test That Went Awry Was Concealed.” Chicago Tribune, March 9, 1997.
Dawkins, Richard. The Extended Phenotype: The Long Reach of the Gene. London: Oxford University Press, 1999.
———. The Selfish Gene. London: Oxford University Press, 2006.
Deford, Frank. Alex: The Life of a Child. New York: Viking Adult, 1983.
DeVita, Vincent T. Jr., M.D. and Elizabeth DeVita-Raeburn. The Death of Cancer: After Fifty Years on the Front Lines of Medicine, a Pioneering Oncologist Reveals Why the War on Cancer Is Winnable—and How We Can Get There. New York: Sarah Crichton Books, 2015.
Dobrzynski, Judith H. “The Lost Years of Woody Guthrie: The Singer’s Life in Greystone Hospital.” Aljazeera America, January 12, 2014.
Dominus, Susan. “The Mixed-Up Brothers of Bogotá.” New York Times Magazine, July 9, 2016.
Donaldson, Susan James. “Fugates of Kentucky: Skin Bluer Than Lake Louise.” ABC News Official Website, February 22, 2012: http://abcnews.go.com/Health/blue-skinned-people-kentucky-reveal-todays-genetic-lesson/story?id=15759819.
Doring, Gerd, and Niels Hoiby. “Early Intervention and Prevention of Lung Disease in Cystic Fibrosis: a European Consensus.” Journal of Cystic Fibrosis, 2004: https://www.elsevier.com/__data/promis_misc/2004.pdf.
Facing Our Risk of Cancer Empowered Official Website. “No One Should Face Hereditary Cancer Alone.” Last updated November 5, 2015: http://www.facingourrisk.org/understanding-brca-and-hboc/information/risk-management/oophorectomy/basics/overview.php.
Farber, Seymour M., and Henry R. Eagle. “Streptomycin Therapy of Tuberculosis.” Western Journal of Medicine, July 1948: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1643317/?page=1.
Fife-Yeomans, Janet, and Ian Walker. “How a School Conversation Exposed the Incest of the ‘Colt’ Family.” Daily Telegraph, June 12, 2014.
Gifford, Bill. Spring Chicken: Stay Young Forever (or Die Trying). New York: Grand Central Publishing, 2015.
Gioia, Ted. Love Songs: The Hidden History. London: Oxford University Press, 2015.
GoFundMe. “Saving Eliza.” Last updated May 20, 2016: https://www.gofundme.com/ElizaONeill.
Granados, José A. Tapia. “Life and Death During the Great Depression.” Proceedings of the National Academy of Sciences, October 13, 2009.
GuestHollow.com Offical Website. “Extracting DNA from Strawberries Experiment.” November 7, 2012: http://guesthollow.com/blog/2012/11/extracting-dna-from-strawberries-experiment/.
Haldeman-Englert, Chad, M.D., FACMG. “Autosomal Dominant.” U.S. National Library of Medicine. Last updated May 5, 2015: https://medlineplus.gov/ency/article/002049.htm.
———. “Sanfilippo Syndrome.” U.S. National Library of Medicine. Last updated April 20, 2015: https://medlineplus.gov/ency/article/001210.htm.
Harvard University Official Website. “BBS Faculty Member—Christine Seidman.” Last updated August 22, 2013: http://www.hms.harvard.edu/dms/bbs/fac/SeidmanChristine.php.
Hathaway, Millicent L. “Trends in Heights and Weights.” Yearbook of Agriculture, 1959.
Hirschler, Ben. Reuters. “TIMELINE—Milestones in gene therapy.” April 27, 2015: http://www.reuters.com/article/health-genetherapy-timeline-idUSL5N0XK41J20150427.
Howard Hughes Medical Institute Official Website. “Christine E. Seidman, M.D., Investigator, 1994–Present.” Last updated May 2, 2016: http://www.hhmi.org/research/genetic-causes-human-heart-disease.
Hughes, Mark. Interviewed by Norah O’Donnell. “Breeding Out Disease.” 60 Minutes, ABC. October 26, 2014.
Hurt, Raymond. “Tuberculosis Sanatorium Regimen in the 1940s: A Patient’s Personal Diary.” Journal of the Royal Society of Medicine: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1079536/.
Johnson, Mark, and Kathleen Gallagher. One in a Billion: The Story of Nic Volker and the Dawn of Genomic Medicine. New York: Simon & Schuster, 2016.
Keating, Caitlyn. “Family of Girl with Rare Disorder Quarantine Themselves for Nine Months.” People, February 19, 2015.
Keim, Brandon. “Gene Therapy Cures Color-Blind Monkeys.” Wired, September 16,
2009.
———. “Gene Therapy Restores Sight.” Wired, September 22, 2008.
Kroll, David. “Angelina’s Round Two with Mutated BRCA1: Solid Science Sprinkled with Nonsense.” Forbes, March 26, 2015.
Lewis, Ricki. “Founder Populations Fuel Gene Discovery.” Scientist, April 16, 2001.
Lorenzo’s Oil, directed by George Miller. Universal City, CA: Universal Studios and Kennedy Miller Productions, 1992.
Mayo Clinic Official Website. “Huntington’s Disease.” Last updated July 24, 2014: http://www.mayoclinic.org/diseases-conditions/huntingtons-disease/basics/symptoms/con-20030685.
Medscape Website. “Cavernous Sinus Syndromes.” Last modified February 14, 2014: http://emedicine.medscape.com/article/1161710-overview.
Morse, Stephen P. “From DNA to Genetic Genealogy: Everything You Wanted to Know But Were Afraid to Ask.” First printed in the Association of Professional Genealogists Quarterly, March 2009: http://www.stevemorse.org/genetealogy/dna.htm.
National Human Genome Research Institute. “Genetic Mapping.” Last updated October 21, 2015: http://www.genome.gov/10000715.
Nelson, Bryce. “Blue People–Appalachian Marvel.” La Crosse Tribune, November 6, 1974.
Nova. “Cut to the Heart.” April 8, 1997: http://www.pbs.org/wgbh/nova/heart/.
———. “Secret of Photo 51.” April 22, 2003: http://www.pbs.org/wgbh/nova/photo51/.
Nova Official Website. “Pioneers of Heart Surgery.” Last modified April 8, 1997: http://www.pbs.org/wgbh/nova/body/pioneers-heart-surgery.html.
———. “Rosalind Franklin’s Legacy.” Last modified April 22, 2003: http://www.pbs.org/wgbh/nova/tech/rosalind-franklin-legacy.html.
Parrington, John. The Deeper Genome: Why There Is More to the Human Genome Than Meets the Eye. London: Oxford University Press, 2015.
Pitt, Angelina Jolie. “Angelina Jolie Pitt: Diary of a Surgery.” New York Times, March 21, 2015.
———. “My Medical Choice.” New York Times, May 14, 2013.
Radiolab. “Antibodies, Part I: CRISPR.” Produced by Molly Webster. Director of Sound Design, Dylan Keefe. Written by Jad Abumrad and Robert Krulwich. National Public Radio, June 6, 2015.
Ridley, Matt. Genome: The Autobiography of a Species in Twenty-Three Chapters. London: Fourth Estate, 1999.
———. Genome: The Autobiography of a Species in Twenty-Three Chapters. New York: Harper Perennial, 2006.
Sexton, Buck. “Mystery Solved: ‘Blue Faced’ Appalachian Family Caused by Rare Medical Condition.” Blaze, February 16, 2012.
Shapiro, Beth. How to Clone a Mammoth: The Science of De-Extinction. Princeton: Princeton University Press, 2015.
Shears, Richard. “In the Valley of the Damned: Over Four Generations, One Extended Family Practiced a Cult of Incest Hidden from the World.” DailyMail.com Official Website, December 13, 2013: http://www.dailymail.co.uk/news/article-2523555/Horror-Australian-incest-cult-spanned-generations-revealed.html.
Sifferlin, Alexandra. “Lessons from Storm Sandy: When Hospital Generators Fail.” Time, October 30, 2012.
Simmons, Rebecca, Ph.D. “Epigenetic Influences and Disease.” Scitable by Nature Education, 2008: http://www.nature.com/scitable/topicpage/epigenetic-influences-and-disease-895.
Solomon, Andrew. Far from the Tree: Parents, Children, and the Search for Identity. New York: Scribner, 2013.
Stolberg, Sheryl Gay. “Gene Therapy Ordered Halted at University.” New York Times, November 28, 1999.
———. “The Biotech Death of Jesse Gelsinger.” New York Times, January 22, 2000.
Sullivan, Brian. “Day 24: Elizabeth Sprague Coolidge.” Berkshire Eagle, January 23, 2011.
Swartzendruber, Donna, M.S.N., R.N., C.N.N. “What Is Albumin?” DaVita Official Website, August 2, 2014.
Trost, Cathy. “The Blue People of Troublesome Creek: The Story of an Appalachian Malady, an Inquisitive Doctor, and a Paradoxical Cure.” Science 82, November 1982.
University of Arizona Official Website. “Charles L. Witte, M.D. (1935–2003): Quintessential Lymphologist and Reluctant Surgeon.” Witte Tribute, Lymphology 36 (2003): http://www.u.arizona.edu/~witte/contents/wittetribute.pdf.
University of Pittsburgh Medical Center Official Website. “Low Platelet Count (Thrombocytopenia).” Accessed March 2015: http://www.upmc.com/patients-visitors/education/cancer/pages/low-platelet-count.aspx.
U.S. Department of Health and Human Services Official Website. National Institutes of Health. “All About the Human Genome Project (HGP).” Last updated October 1, 2015: https://www.genome.gov/10001772/.
———. National Institutes of Health. “Genetic Testing: How Is It Used for Healthcare”: https://report.nih.gov/nihfactsheets/ViewFactSheet.aspx?csid=43.
———. National Institutes of Health. “National Cancer Institute: BRCA1 and BRCA2 Cancer Risk and Genetic Testing.” Last updated April 1, 2015: http://www.cancer.gov/about-cancer/causes-prevention/genetics/brca-fact-sheet.
———. National Institutes of Health. “National Cancer Institute: Surgery to Reduce the Risk of Cancer.” Last updated August 12, 2013: http://www.cancer.gov/types/breast/risk-reducing-surgery-fact-sheet.
———. National Institutes of Health. “What Is Asthma?” National Heart, Lung and Blood Institute. Last modified August 14, 2014: http://www.nhlbi.nih.gov/health/health-topics/topics/asthma.
———. National Institutes of Health. “Thoracentesis.” National Heart, Lung and Blood Institute. Last modified July 30, 2014: http://www.nhlbi.nih.gov/health/health-topics/topics/thor.
U.S. National Library of Medicine. National Institutes of Health. “Transjugular Intrahepatic Portosystemic Shunt (TIPS).” Last updated February 11, 2015: https://medlineplus.gov/ency/article/007210.htm.
———National Institutes of Health. “What Are the Types of Genetic Tests?” Last modified July 19, 2016: https://ghr.nlm.nih.gov/primer/testing/uses.
Wade, Nicholas. “Patient Dies During a Trial of Therapy Using Genes.” New York Times, September 29, 1999.
WebMD Official Website. “Banti’s Syndrome.” Last updated May 28, 2015: http://www.webmd.com/hepatitis/bantis-syndrome.
YourGenome.Org Official Website. “Of Mice and Men.” Last updated June 13, 2016: http://www.yourgenome.org/stories/of-mice-and-men.
Yudell, Michael, Dorothy Roberts, Rob DeSalle, and Sarah Tishkoff. “Taking Race Out of Human Genetics.” Science, February 5, 2016: http://science.sciencemag.org/content/351/6273/564.
Zielenski, J. “Genotype and Phenotype in Cystic Fibrosis.” Pubmed.gov (2000): http://www.ncbi.nlm.nih.gov/pubmed/10773783.
About the Author
Joselin Linder is a writer living in Brooklyn. She is a regular contributor to the New York Post and Morning Edition, among other media outlets.
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the family gene. Copyright © 2017 by Joselin Linder. All rights reserved under International and Pan-American Copyright Conventions. By payment of the required fees, you have been granted the nonexclusive, nontransferable right to access and read the text of this e-book on-screen. No part of this text may be reproduced, transmitted, downloaded, decompiled, reverse-engineered, or stored in or introduced into any information storage and retrieval system, in any form or by any means, whether electronic or mechanical, now known or hereafter invented, without the express written permission of HarperCollins Publishers.
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* TB patients were believed to no longer be infectious after about two weeks of steady treatment and were usually released, although we now know this information was erroneous.
* Most sufferers experience their first CF symptoms in infancy, making parents like the Defords the front line in their children’s survival.
* AAV9 has become a go-to virus for gene-therapy delivery and was the planned delivery method for Eliza’s trial. Exposure would render her ineligible.
The Family Gene Page 22