Rare Chromosome Disorder Awareness Week

Estimated reading time: 3 minutes

Raising Awareness.

It’s Rare Chromosome Disorder Awareness Week, time to raise awareness. Initially, I found it much harder to speak openly about my son’s chromosome disorder, a microduplication of Chromosome 16p11.2. I think that at the time, it was a fear that people wouldn’t be able to understand or that speaking out would isolate us even more.

Over time, I came to the conclusion that I want my son to be able to be himself, and from that, I knew that it was necessary to raise awareness about his diagnosis. (Allowing others to have a better understanding of his chromosome disorder).

Thankful.

Even though my son has some challenges, he has made so much progress over the years, and that is something to acknowledge. He does have access to a computer at school, but I find it amazing that he can write. It doesn’t matter for how long for, he can write! Looking back on how things used to be, that is an accomplishment. Furthermore, he can sit with his class for assembly and sit there for the whole time.

I am thankful that his cousins are so accepting and understanding of him. Not judging him when he is rocking or ripping up some paper when he is feeling anxious. Being loving and caring when he is feeling overwhelmed in a new or busy environment.

Family History.

I have mentioned previously that after my son’s diagnosis, we found out that he inherited 16p11.2 from his dad. After his dad’s diagnosis, we later found out that his dad inherited the chromosome disorder from his mum. From our experience, I would say that between all three people, there are similar traits, but at the same time, they all have their differences. They all have their own challenges, but they also have strengths. Everyone is different.

My Son’s Dad.

As it’s Rare Chromosome Disorder Awareness Week, I’m going to explain more about the father of my child’s experiences. (consent was given)

My son’s dad was diagnosed with a microduplication of chromosome 16p11.2 as an adult and had no help or support throughout his childhood. Diagnosis: A Dad’s Perspective highlights how his chromosome diagnosis gave him a sense of freedom and helped him make sense of his life growing up. He now feels that he has a better understanding of himself.

With no support, he failed his GCSE’s but knew that he had great attention to detail and knew how to fix things. Despite his struggles, he believed in himself so enrolled for a Level 1 course in Vehicle Maintenance and Repair. He proved to his tutor to be mechanically minded. So, he had the opportunity to complete his Level 2 and 3. He was able to show what he was capable of and now works in this industry.

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