Holden and Elliot have felt a surge of support from their community recently, as their preschool came together to celebrate them and show their love. Both boys were born with MECP2 duplication syndrome, a rare neurodevelopmental disorder. They also share a love of trucks, which is how Reggio Preschool celebrated them.
For an entire week, different trucks visited the school, from a UPS truck to a firetruck to a snowcone truck. The kids, especially Holden and Elliot, loved the week of activities and fun. Through these efforts, the community was also able to raise a lot of awareness about MECP2 duplication syndrome, which remains otherwise largely unknown.
Not only were the two boys ecstatic about a week dedicated to them, but their parents were overwhelmed with the support as well. Their mother, Andrea, said she cried upon seeing all of the decorations and love from the community when she arrived at school on Monday. It was amazing to see how much everyone loves her sons.
About MECP2 Duplication Syndrome
MECP2 duplication syndrome is a rare neurodevelopmental disorder that results from duplicated material on the Xq28 region of the X chromosome. This mutation is inherited in an X-linked pattern, although in some cases it appears sporadically. Because of this inheritance pattern, males are mainly impacted, although females may show some signs if they are a carrier.
There is a wide variety of symptoms in this condition, although not all patients will experience every symptom. In addition, more research must be done to better understand MECP2 duplication syndrome. According to current knowledge, symptoms include:
- Feeding difficulties
- Hypotonia
- Failure to thrive
- Missing developmental milestones
- Difficulty swallowing
- Gastroesophageal reflux
- Excessive drooling
- Abnormal gait
- Intellectual disability
- Neurological regression
- Little to no speech
- Spasticity
- Epilepsy
- Recurrent infections due to a dysfunctioning immune system
- This is a major contributing factor to a lower life expectancy
- Constipation
There are additional symptoms, and medical professionals are still trying to gain a better understanding of this syndrome. In terms of treatment, doctors work to address the specific symptoms that each patient presents.
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