Today, our building is having jean day for “gene” day. World RARE Disease Day is on February 28, and since that is a Saturday, we are celebrating today. This was established back in 2008 because treatment for many rare diseases is insufficient. There are more than 7,000 rare disease types with 80% being caused by faulty genes.
One of our students at Mayfield has a rare genetic condition. Logan LeClaire has a condition called Phelan-McDermid Syndrome. It is caused by a deletion of the terminal end of chromosome 22 or mutation of SHANK3 gene or ring chromosome 22, in which the 22nd chromosome forms a ring. This condition in most cases is not inherited, but is from spontaneous mutation. Some of the core features of this syndrome include intellectual disability of varying degrees, delayed or absent speech, and symptoms of Autism. In Logan’s case, he has shown some delayed and absent speech, but he has grown by leaps and bounds since he has started at Mayfield. Each day he is here, we are amazed by the wonderful things we see him doing, such as reading, dictating writing with his communication device, and interacting with friends.
The money raised today will be given to Global Genes, specifically for Phelan-McDermid Syndrome, in honor of Logan.