October is Rett Syndrome Awareness Month. If you are like I was, you do not know what Rett Syndrome is, and like most of us, we are oblivious to something until it directly affects us.

My husband’s cousin, Michael Byrne, and his wife, Samantha, were expecting their second child in October of 2015. On Oct. 6, 2015, beautiful baby Logan entered this world. Logan was initially diagnosed with hypertonia and feeding issues, but the neurologist believed these issues would improve with therapy. However, on December 12, 2015, things took a turn for Logan and he was admitted to Our Lady of the Lake in Baton Rouge. It was at this time that Logan was diagnosed with central and obstructive sleep apnea, and it was recommended for Logan to have a tracheotomy. Michael and Samantha wanted to get a second opinion before deciding on the surgery, so they traveled to the Texas Children’s Hospital in Houston, Texas. The Byrne’s spent weeks at the hospital, watching their newborn baby undergo countless tests and procedures and still trying to keep normalcy and routine in their oldest son’s, Trey, life. Ultimately, it was determined that Logan would need a tracheotomy. The doctors believed Logan had a condition called Congenital Central Hypoventilation Syndrome (CCHS). Logan was tested twice for CCHS, and both tests came back normal. Michael and Samantha still had no answers. The doctors then recommended a Trio-Exome Sequencing Genetic test that would look for any abnormalities in Michael’s, Samantha’s, and Logan’s DNA.

Over six months passed before Michael and Samantha had any type of answer as to what was happening with Logan. After many tests it was determined that Logan has what is known as Rett Syndrome, but when referring to Logan’s condition, the doctors referred to it as the MECP2 related disorder. MECP2 is the name of the gene, and Logan is experiencing mutation-deletion.

Initially Rett Syndrome was recognized only in females and it was hypothesized that Rett Syndrome was lethal in males. The belief being that Rett syndrome was a sex-linked genetic disorder with the gene being localized on the X chromosome. Males only have one X chromosome and, only one MECP2 gene.  Therefore, a male with a mutation in the MECP2 gene has that mutation present in their only copy of the MECP2 gene. So the functionality of the MECP2 gene is adversely affected in all cells in the male.  This is why males with MECP2 mutations present differently than females with MECP2 mutations.

There are only about 60 reported cases of males with MECP2 mutations, Rett Syndrome. At this time, all the clinical trials have been designed with eligibility criteria that are inclusive for females and have excluded males with MECP2 mutations from participating. We need to speak up for our boys and they need to be included in all research for Rett Syndrome.

October is Rett Syndrome Awareness month, and we want to get the word out! October is also the month Logan was born, and what better way to celebrate Logan and the other children affected by Rett Syndrome then to help find a cure! A simple way to increase awareness is painting a pumpkin purple for Halloween and displaying it for all to see. You can also take a picture of your purple pumpkin and share it on social media with the following hashtags: #liftingupLogan #CureRettforAll #IloveaBOYwithRett. Please visit www.rettsyndrome.org and educate yourself on the syndrome that is greatly affecting our girls and BOYS. We love a BOY with Rett!

 

Amber H. McDaniel is a Natchez resident.