Let’s Talk About Rare Disease

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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 autistic community, we raise awareness of autistic people to the broader community. Although my blog is called Positively ASD, I wanted to include blogs on my son’s rare chromosome condition. I feel that it is as essential to speak on that and raise awareness too.

Even if you are not connected to someone living with a rare disease/ rare chromo but want to learn more, then I appreciate that. It is always insightful to read about other people’s 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, 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 afterwards. 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 blog. For us, as a family, we welcome research opportunities, but always check what is involved. Secondly, 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 condition. It does not happen. It is more complicated.

Research Opportunities.

I feel, that to fully understand any rare disease/ rare chromo, there needs to be more research opportunities to work together with healthcare and social care professionals. Furthermore, for the professionals to understand the individual, and family’s life experiences. A person who has a rare disease/ rare chromo diagnosis is still a person. Lastly, I wanted to address the need to focus on the educational, and social impacts of rare disease too, not just medical.

Disclaimer: The views in this blog are my own and are based on personal experience.