Let’s Talk About Rare Disease

*The views in this post are my own and are based on personal experience.

My Blog

When I first started my blog, I struggled coming up with a name for it. A lot of what I knew and felt confident in writing about was autism.

Like in the autism community, we raise awareness of autism to the broader community. Although my blog is called Positively ASD, I wanted to include posts on my son’s rare chromosome disorder too. I feel that it is essential to speak on that and raise awareness.

Even if you are not connected to a rare disease but want to understand more, then I appreciate that. It is always insightful to read about other experiences in life.

Department of Health and Social Care Survey

I have already filled out the National Conversation on Rare Diseases Survey. We do not have to shy away from speaking openly about our experiences of a rare disease, even if it is not fully understood.

I was able to address the challenges that we faced when our son was first diagnosed and other barriers after. It was necessary to express our personal experiences from issues for coordination of care and understanding of rare disease locally.

Rare Disease Research

I briefly wrote about us participating in research under the “Care and Research” heading in my Rare Disease Day post. For us, as a family, we welcome research opportunities. I know that everyone has different opinions on this, and it is a personal choice to participate in research. We cannot walk into our local GP surgery, and our doctor will know and understand my son’s chromosome disorder. It does not happen.

I feel, that to fully understand any rare disease, there needs to be more research opportunities for healthcare and social care professionals. Furthermore, for the individual, and us as parents to understand our life experiences and how to provide a better quality of life. A person who has a rare disease diagnosis is still a person. I wanted to address the social impact of rare disease too.

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