There are no guarantees in life, just like there are no guarantees for every pregnancy to be a healthy one. Yet no one goes into a pregnancy fearing the worse either. For Bonnie Chaballa and her husband Steve, they had dreamed of one day having a very large family. They had a son in the fall of 1997 and a daughter in 1999. They were blessed once again in the summer of 2000 to find that they would be having another little girl the following year. Lily Hope was born on 26 March 2001, to not only proud parents but to two proud siblings. They quickly fell pregnant again when Lily Hope was just four months pregnant. They were thrilled as they wanted a big family. However their lives were changed when major complications erupted during birth and their son died shortly after. Testing would show that their son had Rett Syndrome; a disease that neither Bonnie nor Steve knew anything about (Bonnie, interview). They did not know that their lives would forever be altered again when Lily Hope turned two years old with be diagnosed with the same disorder that killed her brother.
Rett Syndrome is a rare neurobiological disorder that affects roughly about one female out of 10,000 that are born (IRSF, 2008). This disorder was believed only to affect females as the research studies found that only a small number of males were affected (WIBS, 2009). Research has proven that the main cause of Rett Syndrome is linked to a change in a single gene. This gene, MeCP2, hinders nerve cell growth which causes the cells from forming spines which are used for nerve-cell-to-nerve-cell communication (WIBS, 2009).
A female child born with Retts starts of their life like any other normal child, however they soon abruptly stop. In most cases, the young child losses skills and abilities (IRSF, 2008) such as movement, loss of speech, reduced head size, breathing and heart rhythm irregularities. There are four stages that are used to help characterize the disorder and improve its recognition...