Mar 07, 2022
The participant was born full-term through a C-section. Shortly after returning home from the hospital, he began having gastrointestinal-related issues. He was diagnosed with reflux (GERD) and had difficulty with feeding, though these issues were resolved with the use of a specialty baby formula. The participant also had regular constipation and took daily laxatives. He was also noted to have some subtle facial differences (widely set eyes, low nasal bridge).
At 7 months of age, the participant was noted to have developmental delay. He was unable to roll over or sit down, and was enrolled in Early Intervention. 4 months later, he underwent genetic testing which found a duplication of part of chromosome 8 (8p22 duplication).
A year later, the participant underwent a brain MRI and was noted to have a brain malformation (Chiari Malformation type 1). He was asymptomatic at that time. When the participant was 6 years-old, he began complaining of regular headaches, weakness in his right leg, and difficulties with fine motor skills. He underwent another brain MRI which identified a brain tumor (pineal tumor) and fluid build-up in the brain (ventriculomegaly).
The participant promptly underwent surgery to partially remove the pineal tumor. He also underwent a procedure to remove the fluid build-up. The remainder of the tumor was treated through radiation. During this process, the participant was diagnosed with seizures (localization-related epilepsy) and has since been taking a seizure medication.
Currently, the participant continues to receive physical, occupational, and speech therapy. He has not been meeting his expected developmental milestones, but he does well in school despite these challenges.
The participant currently experiences excessive fatigue despite sleeping restfully. He continues to have issues with fine motor skills and is unbalanced when on his feet. He also feels “pins and needles” in his hands and feet, and weakness and numbness in other areas. The participant also has trouble remembering things and has swelling of his optic nerve (left optic disc edema).
Clinicians and researchers are investigating the following genetic changes to see if they are causing the participant’s symptoms:
If this participant sounds like you or someone you know, please contact us!
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