Global Rare Chromosome Disorder Awareness Week

Raising 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 was in deep thought about what I wanted for my son and what kind of world I wanted him to live in. The conclusion was that I want my son to be able to be himself, and from that, I knew that it was necessary for me to raise awareness about his diagnosis. Allowing others to have a better understanding of his chromosome disorder, as well as ASD.

Thank You

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 use a computer at school, but I find it amazing that he can write. It doesn’t matter how much he can write or for how long. He can write! Looking back on how things used to be, that is an accomplishment.

He is no longer clinging onto me and only wanting to be around adults. He now plays with other children. He can sit with his class for assembly and sit there for the whole time. I am so thankful for all of these things.

I give thanks to my son’s class teacher for seeing his abilities and helping him develop friendships at school. Through getting the right support, he is making progress, and every little progress counts.

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

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 that he was mechanically minded. So, he had the opportunity to complete his Level 2 and 3 together. He was able to show what he was capable of and now works in this field.

Final Thoughts

I believe that life is precious, with every day being a miracle. I am grateful for everyone in my life, and I get more joy from the smaller things in life because those are what really matters.

Audio Transcript:

 

Similar Posts:

Rare Disease Day

Lets Talk About Rare Disease

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