Rare Reality

*This post is for information purposes and to raise awareness on Rare Diseases as part of the Rare Disease Day Campaign 2020. I am a patient member of Rare Disease UK, and we have been, and are currently participating in research with Simons Searchlight. I received no payment or any other compensation for this post.

Simons Searchlight

Simons Searchlight

We remain registered with Simons Searchlight (originally named Simons VIP Connect) since 2014. (who we found out about through Unique)They are international researchers who study “conditions that can be extremely rare”.

We periodically take part in online research surveys and telephone calls documenting my son’s developmental history. Their research focuses on neurodevelopmental conditions and genes associated with ASD.

Here is a link to the genes that they study:

https://www.simonssearchlight.org/research/what-we-study/

Through their research, we have had access to their 16p11.2 duplication syndrome guidebook. Simons Searchlight offer global support and collaboratively work with families, helping families now and in the future:

“together, we will be successful.”

Rare Disease UK

rare disease UK

On the Rare Disease UK website, you can find information about the UK strategy for rare diseases, and alert card report.

They also have a microsite for Rare Disease Day where you can watch their campaign video, share your story, connect with other stars and much more: https://rarereality.raredisease.org.uk/

“1 in 17 people will live with a rare disease in their lifetime.”

Shining Star

star, rare reality, 16p11.2

We see you from afar in the darkened night,

Luminating your path, following your light.

 

Dear star, you have our attention, why didn’t we see this before?

You have guided our journey through the cosmos, wanting to know more.

 

Like a fingerprint in the sky and seeing those dark lines,

A continuous spectrum, a powerful connection when all the stars combined.

 

Powerful like the sun, with a magnitude of possibilities,

Looking through the telescope and you’ll see the star’s abilities.

 

A horoscope of the future. when the stars align,

Unique on their own but they are also intertwined.

 

My respect and admiration, your radiance, beaming freely,

I love you so much, dear star, you have been an astronomical part of me.

 

 

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out /  Change )

Google photo

You are commenting using your Google account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )

Connecting to %s

This site uses Akismet to reduce spam. Learn how your comment data is processed.

Powered by WordPress.com.

Up ↑

%d bloggers like this: