Tyler and Luke were diagnosed in May of 2013 with a rare gene defect. Rare as in... we are the 2nd confirmed case worldwide. The first family noted to have this defect was diagnosed in 2011 in Algeria. The Med23 gene causes intellectual disability in an autosomal recessive fashion which means both parents carry some type of mutation on the same gene and any child has a 25% chance of inheriting the disease. Med is a large multi-protein complex. Med23 is a subunit of this large complex and we were told that medical science is just beginning to understand the specific role of Med23. It is known that Med23 has a very specific role in gene transcription (giving directions to allow the process of genetic information to be copied from DNA to RNA to result in a specific protein form. Because of the defect, information is not conveyed properly and results in a disruption. It is believed that Med23 plays a crucial role in brain development and thus, cognitive thinking. The end result, a child with global developmental delays.
Tyler and Luke are special children. They do not speak, walk or use arms in purposeful manner.They are severely delayed and require assistance with all activities of daily living with 24 hour care. They have very high muscle tone in their arms and legs. They require medication to help stop the excessive slobbering. They have many sensory issues. They have multiple disabilities!