Far From the Tree

by Solomon, Andrew

  435 The discovery of genes responsible for achondroplasia was first reported in Clair A. Francomano et al., “Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p,” Human Molecular Genetics 3, no. 5 (May 1994); R. Shiang et al., “Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia,” Cell 78, no. 2 (July 29, 1994); and Gary A. Bellus, “Achondroplasia is defined by recurrent G380R mutations of FGFR3,” American Journal of Human Genetics 56 (1995), pages 368–73. The discovery of the gene responsible for diastrophic dysplasia was first reported in Johanna Hästbacka et al., “The diastrophic dysplasia gene encodes a novel sulfate transporter: Positional cloning by fine-structure linkage disequilibrium mapping,” Cell 78, no. 6 (September 23, 1994); for pseudoachondroplasia, in Jacqueline T. Hecht et al., “Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia,” Nature Genetics 10, no. 3 (July 1995); and for SED, in Brendan Lee et al., “Identification of the molecular defect in a family with spondyloepiphyseal dysplasia,” Science, New Series 244, no. 4907 (May 26, 1989).

  For background on the genetics and incidence of dwarfism, see Clair A. Francomano, “The genetic basis of dwarfism,” New England Journal of Medicine 332, no. 1 (January 5, 1995); and R. J. M. Gardner’s “A new estimate of the achondroplasia mutation rate,” Clinical Genetics 11, no. 1 (April 2008).

  436 John Wasmuth’s remarks about the proper use of prenatal diagnosis are quoted on pages 17–18 of Dan Kennedy’s Little People (2003).

  437 The survey of attitudes toward abortion following prenatal diagnosis of achondroplasia was described in Jen Joynt and Vasugi Ganeshananthan, “Abortion decisions,” Atlantic Monthly, April 2003.

  438 John Richardson refers to couples who wish to screen out average-size fetuses on page 9 of his memoir, In the Little World: A True Story of Dwarfs, Love, and Trouble (2001).

  439 The quotation from Darshak Sanghavi comes from his article “Wanting babies like themselves, some parents choose genetic defects,” New York Times, December 5, 2006.

  440 Betty Adelson and Joe Stramondo referred to “coercive eugenics” in an unpublished 2005 letter to the editor of the New York Times.

  441 The anecdote about clinics’ refusal to implant dwarf embryos comes from Andy Geller, “Docs’ designer defect baby: Disabled by choice,” New York Post, December 22, 2006.

  442 The quotation from Carol Gibson comes from the article “Babies with made-to-order defects?,” Associated Press, December 21, 2006.

  443 This passage is based on my interview with Ginny Foos in 2003 and subsequent communications.

  444 For discussion of potential economic disparity in the burden of disability resulting from the proliferation of prenatal diagnoses of dwarfing conditions, see Amy Harmon, “The problem with an almost-perfect genetic world,” New York Times, November 20, 2005.

  445 Tom Shakespeare’s comments about impairment were made on the BBC radio program Belief, broadcast on December 30, 2005. Shakespeare has taken some flak for his evolving views about dwarfism and disability; see T. Koch, “Is Tom Shakespeare disabled?,” Journal of Medical Ethics 34 (2008).

  446 The LPA statement was issued in 2005 as “Little People of America on pre-implantation genetic diagnosis” and can be found on the organization’s website, http://data.memberclicks.com/site/lpa/LPA_PGD_Position_Statement_2007.doc.

  447 All quotations from Ericka Peasley come from my interview with her in 2009.

  448 For more information on Morquio syndrome, see Benedict J. A. Lankester et al., “Morquio syndrome,” Current Orthopaedics 20, no. 2 (April 2006).

  449 Gene therapy for chondrodysplasias is discussed in R. Tracy Ballock, “Chondrodysplasias,” Current Opinion in Orthopedics 11, no. 5 (October 2000), pages 347–52.

  450 The quotation from Virginia Heffernan (“. . . a cherished inheritance . . .”) comes from her article “The challenges of an oversized world,” New York Times, March 4, 2006.

  451 The following passage is based on my interviews with Monique Duras, Oleg Prigov, and Anatole Prigov in 2004 and 2008 and other communications. Their names are pseudonyms. Some other identifying details have been changed.

  452 On geographic differences in preference for limb-lengthening surgery, see P. Bregani et al., “Emotional implications of limb lengthening in adolescents and young adults with achondroplasia,” Life-Span & Disability 1, no. 2 (July–December 1998).

  453 The development of and controversy over limb-lengthening is discussed in David Lawrence Rimoin, “Limb lengthening: Past, present, and future,” Growth, Genetics & Hormones 7, no. 3 (1991); Eric D. Shirley and Michael C. Ain, “Achondroplasia: Manifestations and treatment,” Journal of the American Academy of Orthopedic Surgeons 17, no. 4 (April 2009); and Lisa Abelow Hedley, “The seduction of the surgical fix,” in Surgically Shaping Children: Technology, Ethics, and the Pursuit of Normality, edited by Erik Parens (2006). The technique is described in detail in S. Robert Rozbruch and Svetlana Ilizarov, Limb Lengthening and Reconstructive Surgery (2007) .

  454 Betty Adelson refers to the price of limb-lengthening surgery on page 95 of Dwarfism (2005).

  455 The controversy within LPA about Dror Paley is described by Betty Adelson on pages 90–94 of Dwarfism (2005).

  456 For Gillian Mueller’s comments on limb-lengthening, see her article “Extended limb-lengthening: Setting the record straight,” LPA Online, 2002.

  457 The quotation from the LPA executive about the need to wait until a child is old enough to consider thoughtfully the ramifications of limb-lengthening surgery occurs on pages 170–71 of Dan Kennedy, Little People (2003).

  458 The therapeutic potential of limb-lengthening is discussed in Hui-Wan Park et al., “Correction of lumbosacral hyperlordosis in achondroplasia,” Clinical Orthopaedics & Related Research 12, no. 414 (September 2003).

  459 The quotation from Dan Kennedy about the benefits of longer arms occurs on page 186 of Little People (2003).

  460 For more information on complications of limb-lengthening surgery, see Douglas Naudie et al., “Complications of limb-lengthening in children who have an underlying bone disorder,” Journal of Bone & Joint Surgery 80, no. 1 (January 1998); and Bernardo Vargas Barreto et al., “Complications of Ilizarov leg lengthening,” International Orthopaedics 31, no. 5 (October 2007).

  461 The quotation from Arthur W. Frank about the imperative to “fix” comes from page 18 of his article “Emily’s scars: Surgical shapings, technoluxe, and bioethics,” Hastings Center Report 34, no. 2 (March–April 2004).

  462 For more on Nicholas Andry and the history of orthopedic medicine, see Anne Borsay’s chapter, “Disciplining disabled bodies: The development of orthopaedic medicine in Britain, c. 1800–1939,” in Social Histories of Disability and Deformity: Bodies, Images and Experiences, edited by David M. Turner and Kevin Stagg (2006).

  463 FDA approval of Humatrope for “unexplained shortness” was reported in Mark Kaufman, “FDA approves wider use of growth hormone,” Washington Post, July 26, 2003.

  464 Growth hormone treatment for short stature is discussed in Carol Hart, “Who’s deficient, who’s just plain short?” AAP News 13, no. 6 (June 1997); Natalie Angier, “Short men, short shrift: Are drugs the answer?,” New York Times, June 22, 2003; “Standing tall: experts debate the cosmetic use of growth hormones for children,” ABC News, June 19, 2003; and Susan Brink, “Is taller better?” and “When average fails to reach parents’ expectations,” Los Angeles Times, January 15, 2007.

  465 Studies finding a positive correlation between height and income include Nicola Persico, Andrew Postlewaite, and Dan Silverman, “The effect of adolescent experience on labor market outcomes: The case of height,” Journal of Political Economy 112, no. 5 (2004); Timothy A. Judge and Daniel M. Cable, “The effect of physical height on workplace success and income,” Journal of Applied Psychology 89, no. 3 (2004); and Inas Rashad, “Height, health and income in the United States, 1984–20
05,” W. J. Usery Workplace Research Group Paper Series, Working Paper 2008-3-1. For a summary of the research in layperson’s terms, see “Feet, dollars and inches: The intriguing relationship between height and income,”Economist, April 3, 2008.

  466 The quotation from Vitruvius (“For the human body is so designed by nature . . .”) occurs on pages 72–73 of The Ten Books on Architecture (De Architectura) (1960).

  467 The quotation from William Safire comes from his article “On language: Dwarf planet,”New York Times, September 10, 2006.

  468 John Richardson’s comment on the abiding difference of dwarfs occurs on page 9 of In the Little World (2001).

  469 This passage is based on my interview with Crissy and Kiki Trapani in 2008. For more information on Kniest syndrome (aka Kniest dysplasia), see Jürgen Spranger, Andreas Winterpacht, and Bernhard Zabel, “Kniest dysplasia: Dr. W. Kniest, his patient, the molecular defect,” American Journal of Medical Genetics 69, no. 1 (March 1997).

  470 “Sewing Pins and Salamanders” is included in Writers Reading at Sweetwaters Anthology (2007).

  IV: Down Syndrome

  471 Emily Perl Kingsley’s inspirational essay “Welcome to Holland” was first featured in Dear Abby’s column “A fable for parents of a disabled child,” Chicago Tribune, November 5, 1989. For information on the concert band piece by Steven Barton, see http://www.c-alanpublications.com/Merchant2/merchant.mvc?Screen=PROD&Store_Code=CAPC&Product_Code=11770; for guitarist Nunzio Rosselli’s 2006 CD Welcome to Holland, see http://www.cduniverse.com/productinfo.asp?pid=7245475; for information on other adaptations, see http://www.gosprout.org/film/prog07/bio.htm. The essay is featured in Jack Canfield, Chicken Soup for the Soul: Children with Special Needs (2007), and can also be found all over the Internet.

  472 The President’s Committee for People with Intellectual Disabilities (at http://www.acf.hhs.gov/programs/pcpid) is my source for statistics on the number of people and families affected by intellectual disabilities.

  473 Down syndrome prevalence estimates come from Jan Marshall Friedman et al., “Racial disparities in median age at death of persons with Down syndrome: United States, 1968–1997,” Morbidity & Mortality Weekly Report 50, no. 22 (June 8, 2001); Stephanie L. Sherman et al., “Epidemiology of Down syndrome,” Mental Retardation & Developmental Disabilities Research Reviews 13, no. 3 (October 2007); and Mikyong Shin et al., “Prevalence of Down syndrome among children and adolescents in 10 regions,” Pediatrics 124, no. 6 (December 2009).

  474 Statistics on the rate of miscarriage in Down syndrome pregnancies come from Joan K. Morris, Nicholas J. Wald, and Hilary C. Watt, “Fetal loss in Down syndrome pregnancies,” Prenatal Diagnosis 19, no. 2 (February 1999).

  475 For general information on health problems associated with DS, see Don C. Van Dyke et al., Medical and Surgical Care for Children with Down Syndrome (1995); Paul T. Rogers and Mary Coleman, Medical Care in Down Syndrome (1992); and Claudine P. Torfs and Roberta E. Christianson, “Anomalies in Down syndrome individuals in a large population-based registry,” American Journal of Medical Genetics 77, no. 5 (June 1998).

  For information on specific problems, see the following sources:

  Heart problems: Julie R. Korenberg et al., “The genetic origins of cognition and heart disease in Down syndrome,” in Down Syndrome: Visions for the 21st Century, edited by William I. Cohen et al. (2002).

  Alzheimer’s disease: Warren B. Zigman and Ira T. Lott, “Alzheimer’s disease in Down syndrome: Neurobiology and risk,” Mental Retardation & Developmental Disabilities Research Reviews 13, no. 3 (March 2007); and Sally Sara, “For people with Down syndrome, longer life has complications,” New York Times, June 1, 2008.

  Vision problems: Robert A. Catalano, “Down syndrome,” Survey of Ophthalmology 34, no. 5 (March–April 1990); Robert A. Sargent, “Common eye conditions of children with Down syndrome,” in Medical and Surgical Care for Children with Down Syndrome, edited by Don C. Van Dyke et al. (1995); and Pamela L. Owens et al., “Vision and oral health needs of individuals with intellectual disability,” Mental Retardation & Developmental Disabilities Research Reviews 12, no. 1 (January–February 2006).

  Leukemia: Julie A. Ross et al., “Epidemiology of leukemia in children with Down syndrome,” Pediatric Blood & Cancer 44, no. 1 (2005); and Amy M. Linabery et al., “Congenital abnormalities and acute leukemia among children with Down syndrome: A children’s oncology group study,” Cancer Epidemiology: Biomarkers & Prevention 17, no. 10 (October 2008).

  Small brain: Joseph D. Pinter et al., “Neuroanatomy of Down’s syndrome: A high-resolution MRI study,” American Journal of Psychiatry 158, no. 10 (October 2001): 1659–65.

  Testicular cancer: D. Satgé et al., “An excess of testicular germ cell tumors in Down’s syndrome: Three case reports and a review of the literature,” Cancer 80, no. 5 (September 1997).

  476 For more information on tumor resistance in Down syndrome, see Henrik Hasle et al., “Risks of leukaemia and solid tumors in individuals with Down’s syndrome,” Lancet 355, no. 9119 (January 15, 2000); Quanhe Yang et al., “Mortality associated with Down’s syndrome in the USA from 1983 to 1997: A population-based study,” Lancet 359, no. 9311 (March 23, 2002); and Kwan-Hyuck Baek et al., “Down’s syndrome suppression of tumour growth and the role of the calcineurin inhibitor DSCR1,” Nature 459 (June 25, 2009).

  The decreased risk of arteriosclerosis in Down syndrome is discussed in Arin K. Greene et al., “Risk of vascular anomalies with Down syndrome,” Pediatrics 121, no. 1 (January 2008), pages 135–40.

  477 See Elizabeth H. Aylward et al., “Cerebellar volume in adults with Down syndrome,” Archives of Neurology 54, no. 2 (February 1997); and Joseph D. Pinter et al., “Neuroanatomy of Down’s syndrome: A high-resolution MRI study,” American Journal of Psychiatry 158, no. 10 (October 2001): 1659–65.

  478 The risk of depression in people with Down syndrome is discussed in Dennis Eugene McGuire and Brian A. Chicoine, Mental Wellness in Adults with Down Syndrome (2006).

  479 Studies demonstrating the existence of Down syndrome in primates include Sunny Luke et al., “Conservation of the Down syndrome critical region in humans and great apes,” Gene 161, no. 2 (1995); and Harold M. McClure et al., “Autosomal trisomy in a chimpanzee: Resemblance to Down’s syndrome,” Science 165, no. 3897 (September 5, 1969).

  480 For more information on the history of prenatal testing, see Cynthia M. Powell, “The current state of prenatal genetic testing in the United States,” in Prenatal Testing and Disability Rights, edited by Erik Parens and Adrienne Asch (2000).

  481 The relative risks incurred in different methods of prenatal testing are discussed in Isabelle C. Bray and David E. Wright, “Estimating the spontaneous loss of Down syndrome fetuses between the times of chorionic villus sampling, amniocentesis and live birth,” Prenatal Diagnosis 18, no. 10 (October 1998).

  482 For more information on the triple screen, see Tim Reynolds, “The triple test as a screening technique for Down syndrome: Reliability and relevance,” International Journal of Women’s Health 9, no. 2 (August 2010); Robert H. Ball et al., “First- and second-trimester evaluation of risk for Down syndrome,” Obstetrics & Gynecology 110, no. 1 (July 2007); and N. Neely Kazerouni et al., “Triple-marker prenatal screening program for chromosomal defects,” Obstetrics & Gynecology 114, no. 1 (July 2009).

  483 New developments in prenatal screening are the subject of Roni Rabin, “Screen all pregnancies for Down syndrome, doctors say,” New York Times, January 9, 2007; and Deborah A. Driscoll and Susan J. Gross, “Screening for fetal aneuploidy and neural tube defects,” Genetic Medicine 11, no. 11 (November 2009).

  484 This passage is based on my interviews with Emily Perl Kingsley in 2004 and 2007, and additional communications.

  485 Jason Kingsley and Mitchell Levitz, Count Us In: Growing Up with Down Syndrome (1994), page 28.

  486 New York State’s Residential Habilitation program is described at; other states have similar programs.

  4
87 Jean Marc Gaspard Itard described his efforts to educate a feral child in the early nineteenth century in De l’Education d’un Homme Sauvage, ou Des Premiers Developpemens Physiques et Moraux du Jeune Sauvage de l’Aveyron (1801), published in English under the title The Wild Boy of Aveyron (1962).

  488 Édouard Séguin is quoted on page 9 of the Handbook of Early Childhood Intervention, edited by Jack P. Shonkoff and Samuel J. Meisels (2000). For more information on Séguin, and works on the history of mental retardation in the United States, see Édouard Séguin, Idiocy and Its Treatment by the Physiological Method (1866); Mental Retardation in America: A Historical Reader, edited by Steven Noll and James W. Trent (2004); and James W. Trent Jr., Inventing the Feeble Mind: A History of Mental Retardation in the United States (1995).

  489 Samuel Gridley Howe’s condemnation of disabled individuals was first published in his Report Made to the Legislature of Massachusetts, upon Idiocy (1848) and has been anthologized in Mental Retardation in America: A Historical Reader, edited by Steven Noll and James W. Trent (2004).

  490 John Langdon H. Down’s first description of the syndrome now associated with his name was published as “Observations on an ethnic classification of idiots,” London Hospital, Clinical Letters & Reports 3 (1866), and has more recently been reprinted in Mental Retardation 33, no. 1 (February 1995).

  491 Seminal documents in the history of the concept of “Mongolism” referenced in this section include John Langdon H. Down’s above-cited report; Francis Graham Crookshank, The Mongol in Our Midst: A Study of Man and His Three Faces (1924); L. S. Penrose, “On the interaction of heredity and environment in the study of human genetics (with special reference to Mongolian imbecility),” Journal of Genetics 25, no. 3 (April 1932); L. S. Penrose, “The blood grouping of Mongolian imbeciles,” Lancet 219, no. 5660 (February 20, 1932); and L. S. Penrose, “Maternal age, order of birth and developmental abnormalities,” British Journal of Psychiatry 85, no. 359 (New Series No. 323) (1939).