Research Updates

Rare Disease Day: Great News + Awareness

The presentation above was delivered and recorded at the Arya Foundation’s 2020 Disability Awareness Convention on 02/23/2020. Complex topics like genetics are difficult to simplify. It is even more difficult to explain rare conditions that the medical community has not recognized before. Therefore, we hope to create understanding and awareness on behalf of those affected with rare disease(s). Hopefully the presentation is educational for all.

Each year, the last day of February is celebrated as Rare Disease Day (#rarediseaseday). Instead of staring, we ask that you please stop to say “Hi!” to someone with a disability. Be patient, get to down to their level and calmly wait for a response – we promise you’ll get one! The response may not be a verbal one. In that individual’s own special way, they’ll reply. Additionally, it will not only brighten their day, but your gesture will bring a smile to the individual who cares for them day-in and day-out. You’ll walk away with a smile on your face, too!

RARE DISEASE – EXCITING NEWS!

In honor of today, we are thrilled to share some very exciting news! Last week, we received an email from a gene repository (or database) called “GeneMatcher” where those with rare gene mutations/rare genetic diseases have their abnormal genetic information uploaded. If a “match” is recognized, those that are entered in the database with that same gene mutation will receive an email (dependent on the point of contact listed, respectively) indicating that a “match” has been identified. EXCITINGLY, WE DISCOVERED A MATCH! We received an email and information about another child affected by a CAMSAP1 gene mutation, bringing the total number of recognized/documented individuals worldwide with near identical medical conditions to just FIVE (5)!

Assuming that the estimated population of the world is 7.7 billion people, that means that only 0.00000007142% of the world population is affected! THAT’S RARE COMPANY! To put that in perspective:

  • You have a greater chance of being struck by lightning TWICE (1 in 9 million)
  • You have a great chance, albeit 0.000000342%, of winning the POWERBALL (1 in 292,201,228)

CHANCE to make a CHANGE


Rare Disease

12 GIFTS in 12 MONTHS

If you are determined to help others, we can help you do it: Join our compassionate group of monthly givers, become a Landon’s Leaguer today!

Pledge your monthly donation today of $20.00 or more, and receive a custom LLF embroidered throw blanket!

Thank you for your consideration and generosity!


SCHNUCKS – EScrip Donation Program

To further support our fundraising efforts, please visit and shop at your local Schnucks store, and pickup a “My Schnucks Card”.  Then, enroll your card, and choose “Landon’s League Foundation” by doing the following:

Rare Disease

Shop AmazonSmile and Support LLF

Do you shop on Amazon? Have you heard of AmazonSmile? You can also support us by shopping on AmazonSmile and select “Landon’s League Foundation” as the beneficiary. Amazon will donate a percent of your purchase to LLF and it won’t cost you a single penny more! Click the link below!

Share and Enjoy !

0Shares
0 0

Leave a Reply