Families

We are currently using a Facebook Group to connect with other families experiencing the affects of genetic changes that alter the DYRK1A gene. We are a small but growing community that hopes to provide support, information and resources. We hope to spreading awareness of the affects that occur when one of the DYRK1A genes is unable to function properly.

Where are we located?

We are currently connected with 116 families across the world!

6 thoughts on “Families

  1. My 15 year old son has a DYRK 1A genetic abnormality. We received his diagnosis from Duke University a few years ago after extensive genetic testing. At that time, we were told that there were only a handful of known cases of individuals with this disorder. He has autism, microcephaly, ID, seizures, ITP, chronic constipation and is non-verbal. He has made great progress over the years and we would love to connect with other families to share experiences and offer support. If anyone is interested in connecting or if there is a group already developed, we would love to be a part of that. I can be found on Facebook and have liked the page already in existence. Please contact me.

    • Hi Cheryl, I just sent you a friend request on FB. My daughter is 20 who has a genetic change on the DYRK1A gene. You are the first I have seen mention ITP other than me. I did approve you in the group as well. I look forward to hearing more about your son.

    • Hi Cheryl our daughter(14) got diagnosed about the same time as your son. She has been on the ketogenic diet for over 7 years to control her seizures….and has been seizure free for over 4 years. She has microcephaly and chronic constipation. She speaks fairly well.

  2. Hello. My son is 9 year old son has DYRK1A syndrome. We found out a couple of years ago through genetic testing at Greenwood Genetics, Charleston, SC. It took awhile to find out his disorder, but thank God we now know what it is. I am a divorced mother of two (he and my oldest), and I’m looking to connect with other families who share the same experiences. I’m so very thankful to find this website, it was referred by his geneticist. I do have a FB page. Hope to meet everyone soon.

  3. Hi all, we’re new to the DYRK1A family.
    Our little one was 4 end of November 2016, we received her diagnosis early November 2016.
    She doesn’t have the 21q22.13 deletion, but she does have a mutation.
    We’re still pretty much in the dark, as there isn’t a lot of information readily available.

  4. HI to everyone, Sorry for my English I am an Italian mother and my Little child of 2 years have receaved a diagnosis of gene mutation of dyrk1a. Unfortunately they told me that he is the First in Italy with this diagnosis and all’ the doctors don’t know nothing about this mutation or expectation for our child. This had made feel us very alone but hopefuly we found this web site with all’ this information. Our son have microchephaly, seizures, cronic costipation, and he also is non verbal but I Can say that he is a joyful son and we understand him even without words. We don’t have a Facebook page but we Will provide very soon. Hope to connect with other families for sharing experiences. Thanks

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