Telling Tuesday

June 17th - 23rd is Rare Chromosome Awareness Week and I wanted to participate in it as well. As you know from my first post Jaxson has been diagnosed with a rare genetic condition they call DYRK1A Deletion Syndrome.

Jaxson watching Baby Signing Time

What is DYRK1A exactly?

DYRK1A is a gene that is involved in brain growth. It was identified several years ago but only recognized to be associated with a neurodevelopmental condition in 2008. The DYRK1A gene is on chromosome 21q22.13 and is one of the genes that is missing in the 21q22.13 deletion syndrome. When we compare children with the 21q22.13 microdeletion syndrome and those with changes in the DYRK1A gene, many of their features are similar. We now think that the key features of 21q22.13 microdeletion syndrome are caused by absence of DYRK1A (RareChromo, 2015).

Other names for DYRK1A:

• Dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
• DYRK
• MNBH

Features Associated with DYRK1A:

• Autism Spectrum Disorder (ASD)
• Epilepsy/Seizure Disorder
• Intellectual Disability/Developmental Delay
• Small head/Jaw
• Difference in Facial Feature
• Small size during Pregnancy
• Abnormal gait
• Hypertonia
• Failure to Thrive/Feeding difficulties

Other Symptoms:

• Gastrointestinal 
• Cardiac
• Skeletal
• Genitourinary

Cases of DYRK1A:

• To date there are 188 families on our support page with loved ones who have the DYRK1A deletion syndrome.

Rare Disease Statistics 2018:

• In America, a rare disease is when it affects less than 200,000 people. 
• Signs and symptoms of rare diseases can differ in each individual who has the condition.
• On average it takes FIVE years for a rare disease to be correctly diagnosed.

The day we got the diagnosis April 25, 2018

References:

DYRK1A and 21q22.13 Deletion. (2015). Retrieved from https://www.rarechromo.org/