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Rare Chromosome Disorder Awareness Day 2021.
Today marks Rare Chromosome Disorder Awareness Day 2021. Likewise, many of you will know through reading my blog that my son has a rare chromo diagnosis called 16p11.2 microduplication. I sometimes refer to the condition as a microduplication of chromosome 16p11.2. (My son refers to his diagnosis as an extra part of chromosome 16).
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).
We have recently participated in an American online research study on sensory profiles in rare genetic syndromes, 16p11.2 Microduplication being one of them. Additionally, it is a study to understand how children with certain genetic conditions process sensory information.
For a few years, I have completed several online surveys with Simons Searchlight about my son’s rare chromo. This time, my son had a couple of questionnaires to answer on his sleeping habits.
How to put into words what it is like for my son to live with a rare chromosome condition? Although he has accepted his diagnosis, as he is getting older (and probably throughout life), he will have moments of feeling upset about having an extra part of a chromosome. At the same time, he is aware of his skills and strengths. But emotionally, as a pre-teen, he is trying to find his place in life. It must be a lot for him to take in.
Lastly, the main points that my son wants to raise awareness on are that he wishes to be treated fairly and not to be seen as less of a person. That is what matters to him and is his voice as a child with a rare chromo.
If you are newly diagnosed or have had a diagnosis for a while and need support or advice, Unique charity is fantastic. We have been members for years, and over on their website, they have a Unique Families section with free disorders guides, practical guides, and information on how they can help.
Disclaimer: The contents of this post is for information purposes and is part of the Rare Chromosome Disorder Awareness Day 2021 Campaign. We are patient members of Unique, and I also volunteer as a Local Contact. I received no payment or any other compensation for this post.