As many of you know, our little girl has a very rare chromosomal mutation called MECP2 Duplication Syndrome. Yet. So, we live day by day. She has had issues since birth - choking, reflux, obstructive apnea, laryngomalacia, ventricular nodular heterotopia and thin corpus callosum of her brain, and failure to thrive - just to name a few. The puzzle finally came together when genetics mapped her genome and told us that several of the genes on her X chromosomes (MECP2 is one of the genes) were duplicated and had translocated to her #13 chromosome. Because of this mutation, her body can not function properly and she will be severly to profoundly mentally disabled, may have seizures, may not be able to walk, and will have limited to no speech. She is also very prone to respiratory infections, so we must be very careful with her and with Ashleigh. In the meantime, Meghan attends a special school from Monday through Friday. There, she receives physical therapy, occupational therapy, speech therapy, and special attention to her needs. She is fed through a "g tube" that goes directly into her stomach and sometimes needs oxygen while sleeping. At 10 years old, she takes small steps with support and eats small amounts of food through her mouth - but she wants more!! She is taking 4 different medications to control her seizures, with no success. So, we are trying the ketogenic diet. Since the onset of seizures in 2020, she has regressed terribly. If you'd like information about this syndrome and its symptoms, check out the following website. https://curemds.org
It explains MECP2 duplication in layman's terms and includes profiles of children that have been diagnosed with the syndrome. Meghan's profile is on this site and you'll notice she is one of very few females affected. This is because the genetic syndrome is a duplication of material on one of our X chromosomes. Since females have two X chromosomes in every cell of their body, the X with the duplication can be "turned off" and thus not negatively affect a female. Unfortunately, Meghan's duplicated portion of her X chromosome translocated (moved) to her #13 chromosome. So, the duplicaton is "active" in every cell of her body, just like it is in a male with this syndrome.
