Countdown to the NGLY1 awareness day Mark2Curathon

by ginger

A little more than a week ago, we started celebrating the anniversary of Mark2Cure’s Campaign for NGLY1. We launched a new mission (doc set) the day before our anniversary, and opened up a brand new module the following Monday. Although we initially scheduled to launch another mission the following Wednesday, we decided to delay that mission focus our efforts on improving this new module. Many of you have already tried this new module and sent us valuable feedback (THANK YOU, Mariomar, ckrypton, Judy & AJ, Sue, and Tadams!!!), and we are working on improving the module thanks to your feedback. We hope more of you will try our new module and let us know what you think (don’t be shy, we love hearing from you!)

We are finishing off our anniversary celebration with a Mark2Curathon on June 1st. June 1st was declared NGLY1 awareness day (at least in Utah) thanks to the efforts of the Might family who have touched the lives of many rare and undiagnosed disease patients both within and outside of the NGLY1 community.

We hope you will join our Mark2Curathon in search of clues on this disorder, and join the effort to raise awareness about NGLY1-deficiency.

As we’ve previously alluded, we’ll be having a Mark2Curathon similar to our previous one for Citizen Science and Microvolunteer day. Although this Mark2Curathon will be short (from midnight June 1st to midnight June 2nd), there will be ample opportunities for participants to earn prizes. The Mark2Curathon prize availability will depend on the number of qualifying participants who engage in the following three tasks: 1. Concept recognition tasks, 2. Relationship Extraction Tasks, 3. Tweeting about NGLY1 as seen in the following prize availability table:

Basically, the number of participants for various tasks during the Mark2Curathon will determine the number of prizes given away. If there are less than 10 participants, only Mark2Cure markers will be given. If 11-20 participants do at least one relationship extraction quest, 1 t-shirt will be given away. If 11-20 participants have at least 1 practice quest complete, and do at least 1 concept recognition quest during the Mark2Curathon, 1 mug will be given away. If 11-20 participants make an informative tweet about NGLY1 (with hashtag #NGLY1 and #raredisease), at least 1 prize (t-shirt or mug, by random chance) will be given away. Users who have completed all available concept recognition quests will automatically be counted and be eligible for the concept-recognition task prize.

As with before, our live chat will be active. If you have NGLY1 information to share, please share them on the channel for our twitter users to share. If you’re one of our participants from another rare disease community, don’t be shy! Drop in and share about the rare disease you care about and we’ll share it on our twitter account after June 1st.

Countdown for the event here!

What is NGLY1 deficiency?

NGLY1 deficiency is a rare disease caused by mutations in the NGLY1 gene. Children with this disorder can be misdiagnosed due to the similarity of the symptoms with many other diseases. These symptoms may include some or all of the following:

*Global developmental delay

*movement disorder

*hypotonia

*elevated liver transaminases

*microcephaly

*diminished reflexes

*seizures

*cognitive, motor, and speech impairment

*hepatocyte cytoplasmic storage material or vacuolization

*reduced (hypolacrima) or absent (alacrima) tear production—one of the more distinguishing symptoms of this disorder

Patients with rare diseases like NGLY1-deficiency are often misdiagnosed due to the lack of awareness about their disorder. Hence, even when a rare disease has decent treatment options (like in Hashimoto’s Encephalomyelitis), the delay in diagnosis can lead to poorer patient outcomes. This is one reason why rare disease organizations make great efforts to raise awareness for their diseases. While NGLY1 currently has no cure, raising awareness for the disease will hopefully help the families of undiagnosed NGLY1-deficiency children reach a diagnosis. If you have a twitter or facebook account, please help raise awareness about NGLY1-deficiency tomorrow by tweeting or sharing about this disorder (#NGLY1, #raredisease). To learn more about NGLY1, check out this Wikipedia page that was updated by NGLY1 expert Tadashi Suzuki, follow @NGLY1org, or visit https://gracescience.org/.