It has been an exciting two weeks! In celebration of the anniversary of our campaign for NGLY1, we launched a new module in Mark2Cure, followed by a launch event and a Mark2Curathon. Hence, we have a lot of prizes to send out this week. If you’ve won a prize or a marker, details on how to claim your reward will be sent to you in a separate email. If not, there will be ample opportunities in the future as we resume are biweekly giveaway schedule.

The usual biweekly giveaway
There were 141 quest completions in concept recognition in the last two weeks, including 20 quests that were completed during the Mark2Curathon. The drop in concept recognition quest completions is partially due to the lack of new quests for the power users who have completed all current concept recognition quests, and the division of effort towards the new relationship extraction module. The winners of the bi-weekly drawing (which included all users who had no concept recognition quests left to do) were: manabu, Isabelle, and AJ_Eckhart.

Relationship module launch giveaway
As promised, anyone who completed the training and tried out our relationship module during the first week of its launch would be eligible for a drawing for one of a few Mark2Cure mugs. Fourteen users qualified for the drawing. The winners are: Judy_E, Pinely, and HArielle! All participants of this event will also be eligible for a Mark2Cure marker. We are in need of your input on this module, so please feel free to send us your thoughts on it. Mark2Cure is always undergoing continuous improvement, so we’re grateful for your criticisms/insights.

The NGLY1-Awareness Day Mark2Curathon
There were fewer than 10 participants for the new relationship module in this Mark2Curathon hence, and the number of concept recognition participants was in the 10-20 range; hence one mug will be given away for the Mark2Curathon itself. The winner of the Mark2Curathon participants is: lcb123. Thank you to all the participants of the Mark2Curathon! All participants will be rewarded with a Mark2Cure marker. Although there were fewer participants in this Mark2Curathon as compared to our previous one, but we were very fortunate to be able to interview an NGLY1 family on our live chat page, during the event. Their inspirational story can be found below.

Learning to live fully with an ultra-rare disease- A short, inspiring interview with NGLY1 parents, Greg & Jennifer

Mark2Cure: Please tell us a little more about your amazing NGLY1 trooper

Greg & Jennifer: Gage is a happy 16 year old who is truly is the glue of our family. He has endured more in his 16 years than all of the members of our family combined….we are often amazed at the strength of his little body over the years…he’s tenacious and full of character…[he is an] infectiously happy kid.

Mark2Cure: If he’s infectiously happy is it hard to figure out if something makes him extra happy? That is, is there something in particular that always makes him smile?

Greg& Jennifer: Gage is happy all of the time! We often joke about how he’s easier than our two older children (22 and 20)…no attitude, no late curfews, etc. He’s content to play by himself, but it’s hard to not want to engage with him because he lifts your spirits and keeps you humble.

Mark2Cure: How is he doing today?

Greg & Jennifer: Today, Gage is remarkable healthy. When he was little, his liver caused us ongoing concern…..it was to the point his physicians were telling us he wouldn’t live to be two. Every time we had blood tests, the news was bleak and we were faced with quality of life questions. It seems like almost overnight, we were being told his liver enzymes were improving….it was hard to understand because we’d been told so many times it was looking bad.
Over the years we’d resolved ourselves to the idea that we were going to enjoy every day with him, and if conditions changed, we’d be sad later. So as he approaches his 17th birthday, he’s incredibly blessed with good health.

Mark2Cure: Seems like there’s a lot of yo-yo-ing between good and bad news. Must be hard to be emotionally jerked back and forth like that. What is or has been the most challenging part of caring for an NGLY1 child (besides resisting the urge to engage him)

Greg-Jennifer: The most challenging part of caring for Gage has been learning medical information. 15 years worth of no diagnosis was a challenge but again, we decided we didn’t need a diagnosis to enjoy his life and make him feel his true worth. For my husband and myself, we’ve only had one sad day where we cried. We’d just been told by the doctors that Gage probably wouldn’t see his second birthday. Every medical condition we’d explored had a degenerative outlook and the car ride home from the hospital was quiet and tearful. But when we got home…we quickly determined that if we embraced the idea…we would live a sad, angry life, and Gage would be the recipient of loving faces always looking at him with tears and sorrow. We weren’t going to let that happen, so that’s when we decided every day would be a fantastic blessing…and our faces would reflect it.

Mark2Cure: FIFTEEN years of no diagnosis? Your family is incredible!

Greg-Jennifer: We decided we didn’t need a diagnosis. It probably wasn’t going to change anything in terms of his condition. We knew his brain was affected and that probably wasn’t going to change…..but we also weren’t going to make him an experimental guinea pig.

Mark2Cure: With that you basically answered my next question: How has caring for an NGLY1 child help you and your family to grow/improve?

Greg-Jennifer: Our family is exceptionally grounded. Our children will always be compassionate people because of their brother…nobody dwells on negative, nobody complains of small stuff. While our family has always been a ‘glass is half full’ type of family, we’ve embraced the idea now that the glass is always refillable. Gage keeps our family humble and so grateful for things we’ve watched others lose sight of.

Mark2Cure: Last Q: What should people know about NGLY1-deficiency?

Greg-Jennifer: What’s amazed us the most about NGLY 1 is the wide range if abilities and the connections we now have with other families who, have NGLY 1 as a part of their lives. Some kids speak, walk, run….and while Gage doesn’t speak, or run…he does walk with a walker. (Currently walking is really difficult because he has a dislocated hip, which he’s getting reconstructed June 14.). NGLY 1 is considered one of the most active groups in the rare disease world. After a child is diagnosed, there are families in contact with you immediately to see how they can help. Matt Might and Matt Wilsey are tremendous team leaders and they are leading the charge for medical change. While we always said a diagnosis wasn’t necessary, it’s been such a delight to connect with families all facing the NGLY 1 plight.

Mark2Cure: Thank you so, so very much for sharing with us about NGLY1.

Greg-Jennifer: You are very, very welcome. Their family is a true blessing for us and all other NGLY 1 families.