Six years ago (2014), the DYRK1A community was founded by two moms who desired to be part of a community of people with shared experiences. It all started with a few families and grew to the 400+ families we have today. In this article, Amy Clugston and Janet Banks share details about finding each other, starting an organization, and all of the wisdom they picked up along the way.
Meet Amy Clugston
President of DYRK1A Syndrome US, Co-Founder of DYRK1A Syndrome International Association and resident expert on all things DYRK1A
Personal Details
Tell us about your family
My family includes my husband, John and three kids, Lorna (24), Jadon (20) and Cloey (16). Plus we have a cat named Kitty and dog named Delta.
Introduce us to your DYRK1A child
Lorna is 24 and she was diagnosed in June 2014 when she was 18 years old.
You must wear a lot of different hats, tell us about them
I became a stay at home mom when Lorna was a baby and continued to stay home until my youngest went to Kindergarten. At that time, I started to work in the office of our small business, JLC Underground. During my years of being a stay at home mom, I did a lot of volunteer work including serving as board director for a few different organizations. One of those organizations, which I founded and was president of, was Syndromes Without A Name USA (SWAN USA). Now I spend a lot of my extra time volunteering for the DYRK1A Community; managing the active Facebook Group and other platforms, organizing DYRK1A Family Meetups, driving our international effort to maintain unity and building a team to advance us to higher levels of achievements.
Founding an Organization
When was DYRK1A recognized as a syndrome?
First, let me share the definition of a syndrome. It is a group of signs and symptoms that occur together and characterize a particular abnormality or condition. The first indication that changes affecting the dyrk1a gene might have a similar pattern of symptoms came from a medical article from 2008 that described 2 cases where a translocation caused the gene to be disrupted. Then, there were a few articles suggesting a syndromic pattern within a few cases that were caused by microdeletions. Seven years later, in 2015, DYRK1A was recognized as a syndrome when two articles (article 1) (article 2) were published referencing the same pattern in cases with disruptive de novo mutations. Currently, it is described as DYRK1A-Related Intellectual Disability Syndrome at GeneReviews, but it will most likely change in the near future to DYRK1A Syndrome.
Tell us about the Herculean effort of diagnosis
We had a long 18 year journey to a diagnosis. Lorna had many genetic tests done through those years. In 2009, we participated in the Undiagnosed Diseases Program at the National Institute of Health. There they performed next generation sequencing to look at her exome in the research lab. It wasn’t until 2014 when we got the final results from a clia lab verifying the mutations they found in Lorna’s dyrk1a gene. There is a much more interesting backstory leading up to the final results. In 2013, I randomly came across an excel document showing some gene findings in patients that had been through the Undiagnosed Diseases Program. They published the excel sheet as Request for Proposals (RFP) to researchers in hopes to do some gene function studies to determine if the changes were causative in those cases. Though the details were in a de-identifying format, I could easily pick Lorna out of 53 other patients by looking at the symptoms alone. I then made contact with the research program to ask if it was in fact Lorna’s gene change and they were rather surprised by my findings. Just this year they published an article about her and another child.
There are two founders, how did you two find each other?
In July of 2014, shortly after we got our final results, I was searching “dyrk1a” on Facebook and came across a public support page that Janet Banks had started with one single post about her son's diagnosis. Together we decided that it would be helpful to create a private group for families and friends to connect and support each other. One month after creating the group, we had grown to 5 families, including ourselves, and by the end of 2014 we had 11 families.
Tell us about founding the DYRK1A organization
As our community started to grow and people wanted to come together face to face, we saw the need to raise funds to have a small conference. This was possible for families in the US through the supporting organization SWAN US. We held our first meeting in 2015 and continued collecting donations through SWAN USA until we formed a board and became a nonprofit tax exempt organization in 2019. All the while, Janet and I were working to form the international association to create a united front worldwide for DYRK1A Syndrome. There are so many reasons that I’m compelled to put so much effort into this community but these are my top two: I've spent many years not truly fitting into any one community – giving of myself and sharing my experiences of my journey with Lorna, hoping to find purpose and meaning. I’ve also seen some amazing things that fellow ultra rare organization leaders are doing and want to help build a wonderful community of support, provide information, and advance research for families that come after me.
What’s most surprised or delighted you since starting the organization?
I'm mostly surprised and delighted to see similarities to Lorna in all of the kids, in one way or another. After observing so many syndromes and their communities during Lorna's long diagnostic odyssey, I had longed for such belonging.
How has the DYRK1A community grown and changed?
The biggest change for our community has been in size and make-up. Each year, for the past two years, our community has grown by nearly 100 families. We reached an exciting growth milestone in July 2020 with 400 families. This is a significant growth rate for an ultra rare syndrome. Too, we now have a wide range of ages of individuals with DYRK1A Syndrome in our community. We’ve had a few prenatal diagnoses and 1 individual in their 40’s and all ages in between.
How do you envision this community in 5 years?
I think our community will continue to grow at a similar pace. One goal is to work to maintain the familial atmosphere we have now. I would like to see more materials and programs capable of providing information to families about the knowledge being gained about the syndrome. Within our organization, we will work to build some great programs that families can benefit from based on the needs they express to us. I could also see us becoming more active and leading advances in research of DYRK1A Syndrome.
Words of Wisdom
What was it like to receive a diagnosis?
I was very shocked, I had come to accept that we would never get a diagnosis for Lorna. I cried in relief, knowing that we could now move onto the next stage after receiving a rare diagnosis. I became excited, even though there was no information or community, I knew it would come over time.
What has been your biggest triumph?
I really do think my biggest triumph is being a mother to Lorna. I was a young first time mother with a baby that had medical challenges that couldn’t be understood. This continued uncertainty was very painful. I went through some very difficult times and pushed my quiet, shy, reserved self beyond anything I could imagine. I did it all for her, to become the best I could be for her.
Do you have a mantra? What brings you joy?
I seem to think this and say this a lot:
“Do what you can, where you are, with what you have.” ~ Theodore Roosevelt.
I find great joy in spending time with my extended family; cooking and eating meals together, vacation adventures, outdoor camp activities and much more.
What advice would you give yourself if you could go back in time?
Don’t worry about what may or may not be in your and your child's distant future. Just continue to work toward the next stage of development and you will gradually see what the possibilities are in the near future.
Meet Janet Banks
Secretary of the DYRK1A UK Community, Co-Founder of DYRK1A Syndrome International Association and behind the scenes wizard
Personal Details
Tell us about your family
My husband is Mark and we have two sons, Joseph (16) and Luke (15).
Introduce us to your DYRK1A child
Luke is 15 and we received his diagnosis in July of 2014.
You must wear a lot of different hats, tell us about them
I work part time for a Government department in the UK; I share looking after our 2 lads and the housework with Mark. Although looking after Joseph is more of a waitress and taxi service these days! I'm Secretary of the UK DYRK1A Charity, one of the three administrators for the Facebook group and I'm part of the DYRK1A International committee.
Founding an Organization
Tell us about your diagnosis journey
I guess there's a variety of experiences/journeys that our members have had in reaching a diagnosis and some of that will be influenced by where they live, of course. Luke's diagnosis, like a few other UK families, was as a result of being invited to take part in the Deciphering Developmental Delays study by the geneticist professor we had been seeing for about 7 years. Luke had a diagnosis of learning difficulties as a result of an underdeveloped brain when he was 18 months old but getting the DYRK1A diagnosis gave us the reason why. During those 7 years Luke's blood and skin samples and his features and traits were periodically compared to existing chromosome and genetic disorders.
There are two founders, how did you two find each other?
Upon receiving Luke's diagnosis, I immediately felt the urge to reach out internationally to connect with other families who had children with the same diagnosis. I rejoined Facebook and set up a page referencing Families of DYRK1A. Within the day, Amy contacted me through it. I remember there being a slow trickle of families joining us over the first few months, mostly from the US, Denmark and UK, I think.
Why is the DYRK1A community important to you?
The more formal international organization is still evolving but this community serves a vital role in keeping us united as we grow and hopefully, we can harness our collective power to influence future research.
What’s most surprised or delighted you since starting the organization?
There are many things but meeting families from across Europe and from the US and Canada has been the number one delight.
How has the DYRK1A community grown and changed?
When I take the time to reflect, I see that we have achieved a lot, including all of the conferences across a few different countries, forming a UK charity to help fund the conferences and establishing contacts with a number of specialist professionals and organizations.
How do you envision this community in 5 years?
I think we will have regular international board meetings and run a separate Scientific conference. My hope is that we can become more cohesive internationally for awareness day activities and merchandise matters. Wider still, I often pause to consider the disconnected countries and those families who have no representation in our group. Hopefully that situation will change in time.
Words of Wisdom
What was it like to receive a diagnosis?
It was comforting to know it wasn't something I had done wrong during the pregnancy. Receiving the diagnosis has been a great opportunity to meet so many new friends and find inspiration and support from families who understand. It's like having a whole new family for Luke!
What has been your biggest triumph?
Can I have 2 please?! Our live interview on Sky News (video 1) (video 2) and organizing (with fantastic help from others) the meetup conferences in the UK.
Do you have a mantra?
There's always someone worse off.
What advice would you give yourself if you could go back in time?
Hmmm… I'm not good at this kind of question, but maybe stop trying to do things as a family that just don't work well with your child’s needs. Avoiding and adapting probably makes everyone happier rather than putting pressure on your child and your family to conform!