THOMAS

Meet Thomas from Ireland! He will be four on April 1st. When I went for my 22 week prenatal scan, it showed that Thomas had large ventricles and I was sent to Dublin for fetal brain MRI which showed Ventriculomegaly (enlargement of the ventricles) and severe hydrocephalus (buildup of fluid within the brain). After Thomas was born, he showed delays in his development. A chromosomal microarray showed he had a deletion on chromosome 3, and soon after he started intervention with occupational therapy, physiotherapy, and speech and language therapy.

In 2017, Thomas was seen at the feeding clinic due to multiple chest infections. He was found to have aspiration issues and needed liquids thickened. In March 2018, he went for a routine checkup for his eyes which showed pressure buildup of fluid (a complication of hydrocephalus). This led to April 2018, when he had brain surgery for a VP shunt for the hydrocephalus. In August 2018, he had surgery for a hernia. Then in October 2018 he had heart surgery to fix his atrial septic defect (ASD). Finally, his doctor referred us back to genetics to see if there was another genetic reason for the hydrocephalus, doughy skin, and heart defect. Finally in October 2019, we received the results that Thomas has Smith-Kingsmore Syndrome. We were told there is not much known about this condition. However, I found a Facebook group and website, which has really helped us learn more about the condition.

Although Thomas will likely need additional surgeries in the future, he continues to receive therapies and is making great progress.

Written by Aileen, Thomas’ mother