Rare Reality

Estimated reading time: 3 minutes

Simons Searchlight.

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

Secondly, we periodically take part in online research surveys and telephone calls documenting my son’s developmental history. Furthermore, their research focuses on neurodevelopmental conditions and genes associated with autism. (not the cause of).

Furthermore, here is a link to the genes that they study:

Simons Searchlight | Genetic Changes We Study.

Lastly, through their research, we have had access to their 16p11.2 duplication syndrome guidebook. For instance, 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.

Over 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, and connect with other stars.

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

Shining Star Poem.

my shining star.
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.

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

Related Posts: Let’s Talk About Rare Disease and Diagnosis: The Journey Ahead Part One.