Tomorrow, February 29, is World Rare Disease Day. This day is new to our family. We wanted to share our story about Benjamin to get the word out about his extremely rare condition. On Thursday, January 21st we received a phone call from Ben's geneticist. Benjamin underwent microarray genetic testing. His doctor thought this was a way to rule out anything serious, however the results were definitely not what we expected. Benjamin was diagnosed with Phelan McDermid Syndrome or 22q13 Deletion Syndrome, a rare genetic occurrence and is the result of a damaged or missing protein on the 22nd chromosome (Shank3).
Defects of the SHANK3 gene are highly associated with autism. Individuals with Phelan-McDermid Syndrome often have autism or autism spectrum disorders. Most children with PMS have moderate to severe delays and often do not develop functional language. Infants with medium to large chromosomal deletions may have very low muscle tone, poor motor control, and problems with eating and sleeping. Behavioral issues may stem from autism (e.g., repetitive behaviors), and poor communications skills.
Our family has been welcomed into the Phelan McDermid community with open arms. We continue to learn more information on a daily basis. Eli and I know that Benjamin is going to have a different life than we had imagined. We will encourage all of his triumphs and surround him with loving family and supportive friends. Next month he will be 2 years old. He's not yet walking or talking, but continues five therapies on a weekly basis to help him improve and grow developmentally.
There are only 1300 reported cases of Phelan McDermid syndrome in the world. Our family had a better chance of winning the Powerball than Ben having this rare syndrome. As a parent, I ask that when you see a child, no matter the age, that you don't ask questions like "does he walk?" "How old is he?" "Does he talk?" As Ben's mom these questions hurt. Remember to be accepting of all human beings. All we want is for Ben to be treated equally and loved. ❤ #phelanmcdermidsyndrome #rarediseaseday #bigben