My son has complex needs that impact his development and learning. Over the years, he has received multiple diagnoses, commonly seen in people with 16p11.2. (Although conditions can also vary).
Today is Rare Disease Day 2021, a day to raise awareness about rare diseases and the lived experiences. Likewise, as part of rare disease day recognition, the theme of this year is rare is many, rare is strong, rare is proud.
It is time like these where I have a chance to sit back and think back on our experiences of research on 16p11.2 micro-duplication.