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Rare Disease Day 2021 Save the Date

Jennifer Sills • Jan 27, 2021

Rare Disease Day

Please join us and participate in Rare Disease Day 2021. No action is too small.


What is Rare Disease Day?


Rare Disease Day is the official international awareness-raising campaign for rare diseases. Rare Disease Day takes place on the last day of February each year. This year it is Sunday, February 28th.


What is the purpose of Rare Disease Day?


The main objective of the campaign is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.


Why bring awareness to Rare Disease?


There are over 300 million people worldwide living with a rare disease. Together across borders, and across the 6000+ rare diseases we work towards more equitable access to diagnosis, treatment, care and social opportunity.


The key message for Rare Disease Day 2021 is:


Rare is MANY worldwide.

Rare is STRONG every day.

Rare is PROUD everywhere.


What is the Foundation doing this year for Rare Disease Day?


This year we are launching an online campaign (due to COVID restrictions we are not having an in person event). We will feature stories from our families. We will use infographics to bring awareness to Rare Disease and OCNDS using social media, and feature quote graphics from our families that relate to the Rare Disease Day 2021 Campaign. On Sunday, February 28th, we also are hosting an interactive live Zoom event for families from around the world. Details to follow.


How can you participate? There are endless ways to participate. Here are a few ideas:


1.  Write a brief story or a poem about what it means to raise a rare child or what it means to have someone rare in your life. Please send before rare disease day to info@csnk2a1foundation.org

For examples of stories written by OCNDS families on Rare Disease Day: https://www.csnk2a1foundation.org/we-had-no-idea-by-amber-reynolds/ https://www.csnk2a1foundation.org/i-challenge-you-by-melissa-burnham/

2. You could create a piece of art or a short film that represents the themes of Rare Disease Day:
Examples are:

https://www.youtube.com/watch?v=JV6e0Pp2b0E&feature=emb_title https://www.csnk2a1foundation.org/art-brings-community-together-for-rare-disease-day/

3. Share a photo with painted hands on social media using #RareDiseaseDay and tag @rarediseaseday #csnk2a1 #ocnds @csnk2a1

4. Share a photo with your foundation shirt, bag or mug on social media using #RareDiseaseDay and tag @rarediseaseday #csnk2a1 #ocnds @csnk2a1 or get creative and make something that represents rare disease day to you (cookies in the shape of a hand decorated different colors etc)

5. Change your Facebook or twitter profile and add Rare Disease Day logo to your profile. To add a frame to your profile picture on Facebook:

  • Go to www.facebook.com/profilepicframes
  • Select a frame from the menu or search for the frame you want to use (type in Rare Disease Day) The Rare Disease Day 2021 profile frames will appear
  • Click Use as Profile Picture to save

6. Starting February 21st, the Foundation will begin a rare disease day awareness campaign that will last the entire week. Please share and like the foundation’s content on rare disease day on your social media accounts including Facebook, Twitter, Instagram and Linkedin.


Thank you for helping turn Hope Into Action!


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Newborn Genetic Screenings
By Penelope Gatlin 05 Oct, 2023
By Penelope Gatlin October 2023 When our son was born in 2012, he was hypotonic, severely jaundiced, had feeding difficulties and features such as epicanthic folds and small low set ears. We were told immediately that doctors had suspicions of a genetic syndrome. At that time, genetic testing was limited and once abnormal karyotype, Trisomy 21, and Fragile X were ruled out, we left the hospital with an 8 day old and no diagnosis. While no testing was available at that time to identify the ultra-rare syndrome my child had, because it wouldn’t even be identified until 4 years later, I can only imagine the difference it would have made to our journey to have such an answer sooner. Instead, we were unprepared and actually unaware that just because a diagnosis hadn’t been made then that it didn’t mean there wasn’t in fact a rare disease present. Instead, we dealt with issues as they came and worried and wondered what would be next. From feeding issues and reflux and constipation, to low muscle tone and delayed walking, to speech delay, social and emotional delays, toileting delays, diagnoses of developmental delay, anxiety, situational mutism, sensory processing disorder, and autism, until finally genetic testing that revealed the diagnosis that we’d waited 7 years to find out. While receiving a diagnosis can seem scary, not having an answer but knowing there must be one is even more so. In 2019, the day I clicked onto the portal to see the test results, the largest word on the page was POSITIVE. My heart stopped for a second. For the first time, I read the words “Okur-Chung Neurodevelopmental Disorder.” A roller coaster of emotions ensued, including sadness that we hadn’t known this from birth because it would have made us as parents more prepared, and given us more understanding about what might arise next. Relief that we had an answer, grateful that this syndrome had been identified and that he was among one of the first hundred diagnosed with it in the world, and glad we had the privilege to have access to the testing. Excitement that we can participate in future research. Fright that there’s so much we don’t know about OCNDS, and happiness that there is something that we do. A feeling that we are no longer shooting in the dark and have a small but supportive community to rely on and learn from. I am hopeful that one day, all newborns with features like my child will be tested at birth, so parents can have access to the answers, support, and interventions and therapies that can best help their child as soon as possible.
Autism Diagnosis
By Terri Jordan 23 Aug, 2023
For 16 years, my child displayed numerous symptoms that left us searching for answers, but a genetic diagnosis remained elusive. I considered having my child evaluated for autism to shed light on their situation. However, when I reached out to teachers, doctors, and therapists, I received frustrating responses: “Your child is too friendly to be autistic.” This statement made me doubt the possibility of autism because my child was sociable. “Your child can transition from one activity to another – they are not autistic.” Hearing this, I questioned whether my child’s ability to shift activities invalidated the need for an autism evaluation. “Your child can look me in the eye and answer questions – they are not autistic.” Observations like this made me second-guess the idea of autism, even though my child faced various challenges. “Getting a diagnosis that does not apply to your child would be a big waste of money.” Despite my persistent concerns, this cautionary advice about the evaluation costs left me hesitant. We finally pursued an evaluation when my son turned 20, and it confirmed that he is indeed on the autism spectrum (severe side). Looking back, I regret not taking this step sooner. I should have pursued the autism diagnosis before we received the genetic diagnosis. There are several benefits we could have gained as a family if we had pursued an early diagnosis: “Early Support Is Crucial:” I now realize that early intervention could profoundly impact my child’s development. We could have accessed the right services and therapies much earlier with a diagnosis. “Understanding My Child Better:” I struggled to comprehend my child’s behaviors and communication difficulties. An earlier diagnosis could have provided insights into their unique needs and thought processes. The education could also help me explain how to react to my child’s behavior to family members. “Tailored Guidance and Resources:” A diagnosis could have opened doors to specialized resources and guidance, enabling me to provide the best possible support for my child. “Connecting with Others:” Being part of the autism community might have connected us with other parents who understand our experiences. Sharing and learning from each other could have been invaluable. “Planning for the Future:” Knowing more about my child’s strengths and challenges could have helped me better plan their future, including education, career, and overall well-being. Depending on your location, many states offer funding and support if your child has an autism diagnosis. I wish I listened to my voice instead of being swayed by experts who didn’t fully understand my child’s situation. Ultimately, I know this decision is significant, requiring careful consideration by parents. Looking back, I wish I had trusted my instincts and sought an evaluation sooner to improve my child’s life.
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