Welcome
WE ARE YOUR COMMUNITY
Welcome to the DYRK1A Syndrome community. Receiving this diagnosis is met with a wide range of feelings from shock and fear of the unknown to relief of finally having answers. You're not alone. Many in this community can relate and want you to know it's OK to have those feelings. Together, we will build an inclusive community that redefines normal for our loved ones living with DYRK1A Syndrome.
UNDERSTANDING THE DIAGNOSIS
You may have many questions about how DYRK1A Syndrome might affect your child and family. It is best to ask your doctor or specialist any medical questions you may have. However, because this is a rare diagnosis, literature is limited and symptoms present differently from person to person they may not have the answers you're looking for.
With the help of our medical & scientific advisors, we have put together answers to some of the most common questions which you will find in Step 2. We are hopeful that with more information gathered from our registry we will be able to address more questions and shed light on this rare condition. Connecting with other families, virtually or in person, is another way to help understand your loved one's diagnosis.
Get Started
Step 1
Get Support
Step 2
Get Informed
Step 3
Get Involved
Get Support
"I felt so alone even though I was surrounded by friends and family who adored Emily and loved our family. I couldn’t seem to shake this overwhelming sense of sadness and loneliness caused by Emily’s diagnosis.
I needed this community more than I realized. I needed to be able to cry and have people understand why I felt the way I did. I needed to hear other people say their children had the same victories and struggles that Emily does. I needed to see other kids with DYRK1A to know everything would turn out okay.
We are no longer alone, we found our second family." Adrianne Apodaca
ONLINE COMMUNITY
One easy way to connect with other families is to join our private online community on Facebook. We work hard to keep this a safe and supportive space. Apart from discussion threads, you will find information, resources, a map of self-identified families that have received the diagnosis, and more. Connecting internationally is not a barrier, with the translation feature families can communicate with each other regardless of language.
LOCAL COMMUNITY
Since our DYRK1A community is so rare and spread out across the world, it is important to find support in your local community. Every local community may have different offerings and it may help to find a local organization to help point you in the right direction.
FAMILY MEETUPS
In-person gatherings are another way to connect with other families. The US & UK organizations hold an annual event where families can meet one another, listen to speakers on various topics, and enjoy some fun activities. Families can also plan smaller gatherings with other families that are nearest to them.
Email Updates
Sign up to receive DYRK1A blog posts and research updates delivered to your email as soon as they are published. SIGN UP FOR EMAIL UPDATES
Get Informed
From the moment Lorna was born I had so many questions and concerns that couldn't be answered. There are no published articles or list of common symptoms when they are undiagnosed. Even after we found her change on the DYRK1A gene in 2014 and 18 years later, there was very little information. I was left speechless when I saw an article with a picture of a girl that resembled my daughter even though their change was different. I'm excited to know families will now have more information when they get a diagnosis" Amy Clugston
COMMON QUESTIONS
With the support of our Medical & Scientific Advisory Committee, we were able to answer some of the most common questions people tend to have about DYRK1A Syndrome. These questions and answers can help you become more familiar with and better able to explain it to others. Unique has put together a great resource pamphlet on DYRK1A Syndrome that will answer many questions.
PUBLISHED RESEARCH
There is published research about the DYRK1A gene though it is more limited when it comes to DYRK1A Syndrome specifically. We've gathered a list of existing data and included it on our website. If you are unable to access a particular study due to a paywall or registration, please reach out as we may be able to share a copy. The technical language in which these studies are written may be difficult to understand. We welcome your questions and encourage you to discuss them with the community.
COMMON SYMPTOMS
According to GeneReviews, DYRK1A Syndrome has a recognizable pattern of symptoms that can be seen clinically. They include the following (listed most to least common): Developmental delay or intellectual disability, speech impairment, microcephaly, feeding problems, similar facial patterns, eye abnormalities, epilepsy, gait disturbances, underweight, Autism Spectrum Disorder, short stature, sleep disturbance, urogenital anomalies, hypertonia, gastrointestinal problems, hyperactivity, anxiety, cardiac defects, dental anomalies & musculoskeletal features.
Get Involved
We are eager to learn more about DYRK1A syndrome and help others lead more fulfilled lives. Our way to contribute is providing data, so scientists can help put the pieces together. Luna started her participation in the "Tiger Study" this past April. The data collection is 100% virtual and they are great to accommodate the family and kids time. It is a big time commitment, but the Tiger team broke up some sessions to make sure Luna could participate in full. We can’t wait to see where all the research can take us." Ana Downey
PARTICIPATE IN RESEARCH
There is currently a small grainy snapshot of what DYRK1A Syndrome is and how it could affect people. As more people take part in the research and data collection opportunities, researchers can help piece together a clearer picture of DYRK1A Syndrome. There are a few efforts underway to collect data that will inform future studies. We encourage you to visit our website to learn how to volunteer data anonymously and check back for new opportunities.
VOLUNTEER TIME OR EXPERTISE
We rely on volunteers who provide their time and/or expertise for the programs and opportunities that are currently available. We can always use more volunteers to help us accomplish the goals we have set out in our strategic plan that will ultimately improve the lives of families that have individuals with DYRK1A Syndrome. If interested, you can find and complete the volunteer form on our website.
DONATE TO OUR CAUSE
We fundraise throughout the year to achieve our mission and we are grateful for the donations our community has generated. If you'd like to support, donations can be made with cash, check, or credit card. Details can be found on our website. Other ways to give include employer donation matching programs, participating in our annual run, Facebook fundraisers and shopping with AmazonSmile.