Teddy is now 1 and over the oast ywarAt 26 weeks pregnant Abby (teddy mam) went into hospital with reduced movements, from that point she was on weekly scans and daily monitoring, the doctor looking after Abby was concerned that something was wrong but wasn’t sure what it was. At 37 weeks teddy made a appearance and at first we got the all clear that everything was fine, until the next midwife came on shift and was worried that Teddy had respiratory distress. We got admitted into neo-natal where we spent 5 weeks, and Teddy underwent scans and tests, to try find out what was wrong, after 5 months of waiting we got a appointment with a geneticist and we got told that Teddy had DYRK1A syndrome, which is very rare and only 600 people in the world are known to have it. Teddy is now 1 and over the past year hes had countless hospital appointments and admissions, from having a eye operation in july to now having a operation in march to get the micky button fitted, Teddy is under several consultants for different things which means we often have to travel to different hospitals.

DYRK1A syndrome should be considered in individuals with mild-to-severe psychomotor developmental delay or intellectual disability and any of the following additional features presenting in infancy or childhood;

Growth restrictions

Microcephaly

Typical facial gestalt

During infancy and childhood facial features include prominent ears, deep-set eyes, mild upslanted palpebral fissures, a short nose with a broad nasal tip, and retrognathia with a broad chin. In adulthood, the nasal bridge may become high and the alae nasi underdeveloped, giving the nose a more prominent appearance.

Some affected individuals often have a clinically recognizable phenotype including, feeding problems, seizures, hypertonia, gait disturbances, and foot anomalies. DYRK1A affects children differently, from more severe cases to moderate cases.

We need to make DYRK1A more public and create awareness so that people and more professionals, understand and study more into the syndrome to help people in the future