DYRK1A syndrome is caused by an alteration (deletion or duplication) in the DYRK1A gene on chromosome 21. This genetic change can lead to a variety of symptoms which will vary from person to person.
My son Jaxson was diagnosed with DYRK1A Syndrome when he was 15 months old. We were fortunate enough to have a pediatrician who did his due diligence to find answers for us. Prior to his diagnosis, he was misdiagnosed with laryngomalacia and Prader Willi syndrome. I also experienced a high-risk pregnancy with a two-vessel cord and he measured four weeks behind (IUGR).
His first few months of life were physically and emotionally taxing on our family. We frequented hospitals more often than most families for weight checks because of his inability to suck and swallow. Jaxson also met milestones much later than his peers, he didn’t roll over until he was about 9 months old, didn’t crawl on all fours until he was 13 months old, and he didn’t walk until he was 17 months old (now all he does is run).
1. It can be hard to get a diagnosis.
DYRK1A syndrome is still relatively new within the medical community. When Jaxson was diagnosed in 2018, the genetics team in Birmingham, Alabama were only able to provide us with a print off of what they could find on Google.
Families often wait 15 to 20 years for answers but with improvements in technology, families are finding out much sooner. When Jaxson was diagnosed in 2018, he was patient 176. Those diagnoses are steadily growing, with almost 400 people diagnosed worldwide.
2. Whole-genome sequencing can help make a diagnosis.
Our first visit with our genetics team didn’t bear any fruit, the microarray came back with no findings. It wasn’t until he had whole-genome sequencing (WGS) that we found our answer.
Our doctor broke WGS down for us to help us better understand it. In layman’s terms, pretend you are a book, the test reads every single chapter, page and sentence of your story to find any type of genetic anomalies
The test is so extensive it can take anywhere between four to six months for results.
Other families have found DYRK1A syndrome by undergoing epilepsy or seizure panel testing.
3. DYRK1A syndrome symptoms vary.
Symptoms vary from one child to the next. Symptoms may include intellectual disabilities, developmental delays. microcephaly, seizures, neonatal feeding issues, hypertonia, hypotonia, abnormal gait, foot abnormalities and eye problems.
Certain facial characteristics are also typical such as prominent ears, deeply set eyes, a short nose and a recessed chin.
People with DYRK1A syndrome may also be more likely to have sensory processing disorder or be on the autism spectrum.
4. Treatment varies based on symptoms.
Treatment varies from one child to the next. Most DYRK1A children are in outpatient therapies: occupational, speech, and physical. Others take medications for acid reflux, seizures and epilepsy.
5. Find your tribe.
Parenting our son with DYRK1A syndrome taught us to celebrate all of the little things. Our little one blew his first kiss to me last week and has learned how to give us a “hug.” It brought me to tears.
If your child has DYRK1A syndrome, find your tribe. Our families may be scattered all over the globe but it’s nice to know that we are not alone and that other people understand our journey.