Madison was born on June 1, 2016 (five weeks early) and was first known as “Twin A”. Two minutes later, her twin brother was born. Both Madison and her younger twin brother Ethan remained in the NICU of the hospital for 23 days to allow for full development of their heart and lungs. At this point in time, there was no indication that anything was wrong or that she had been born with a disease.
Rett Syndrome is a rare, non-inherited, genetic neurological disorder that occurs from a spontaneous mutation of the MeCP2 gene.
Rett Syndrome is predominately found in girls (1 in 15,000) due to the fact that the gene mutation occurs on the X chromosome - of which girls have two. Due to its prevalence in females, it has been linked to male lethality, or to a predominant transmission with the paternal X chromosome; nevertheless, in very rare cases (literally one in a million) some males can also be affected by Rett Syndrome.
What all of this means is that if we were to have another girl, the chances of her having Rett would be the exact same as any other family having a girl.
This mutation causes a whole array of symptoms that begin with a regression period usually observed between 6-18 months. Speech and motor function capabilities start to decrease, followed by seizures, growth retardation and cognitive and motor impairment.
Continue following Madison’s story tomorrow here on my account as we unpack more of what Rett Syndrome is and how it has affected Madison.