Sunday, July 5, 2009

Spelling Love with an X:

A Mother, a Son, and the Gene That Binds Them
By Clare Dunsford

Reviewed by Deborah Alecson
Spelling Love with an X is a first person narrative by a mother, who learns that her child, who had not been developing normally, tested positive for fragile X in 1992 at the age of seven. It is a beautifully written story of her journey with her son, the break up of her marriage, and her personal transformations that resulted from having a child with special needs. She also writes about what she feels being a carrier of fragile X and the one who passed the defective gene on to her son, J.P. Dunsford is a writer with a Ph.D. in English and her command of the language and her ability to relay her story are clearly evident. She intersperses poetry and analogies that correlate the nature of genetics and its particular language of DNA, repeats, replications, etc. to her reality of raising her challenging son whom she loves unconditionally. The book ends with an appendix of resources for fragile X syndrome
This is one of the few books written about fragile X syndrome, one of a family of genetic conditions that are the result of a mutation on the FMR1 gene. Fragile X is still highly under-diagnosed, but the known statistics indicate that Fragile X affects one in 3600 males and one in 5000 females. It is the most common known cause of inherited mental impairment. Fragile X is also the most common known single gene cause of autism (2% and 6% of all children) and approximately one-third of children diagnosed with fragile X syndrome also have some degree of autism. The blood test for fragile X was first available around 1990. Since that time, a more sophisticated blood test has been developed that can detect individuals who are carriers or have the premutation (one in 130 women and a smaller number of men), and those have the full mutation. It was recently discovered that individuals with the permutation often develop neurological and cognitive problems later in life, known as Fragile X- associated tremor/ataxia syndrome. Women with the permutation can also develop fragile X-associated primary ovarian insufficiency.