Aug 29, 2022
The participant was delivered via C-section at 35 weeks gestation. The pregnancy was complicated by persistent nausea and vomiting (hyperemesis gravidarum), as well as decreased fetal movements. In early infancy, she exhibited sweating with feeding which led to the detection of an irregular heartbeat (Wolff-Parkinson-White syndrome), which was treated with flecainide, but the participant has since undergone an ablation procedure after an escalation of her heart muscle disease (cardiomyopathy).
The participant was fitted with hearing aids at 2 months of age after being diagnosed with hearing loss (bilateral sensorineural). She exhibited delays (gross motor delays) in crawling, walking, sitting, climbing stairs, and running. She has a tendency to pocket foods and choke on liquids. At 12 months of age, she was found to be small for her age (short stature, 3rd percentile for weight, 2nd percentile for height).
The participant began walking at 15 months of age. She gets tired easily, falls occasionally, and exhibits low muscle tone (hypotonia). She does not show any delays in fine motor, speech, language, or social behavior milestones. She received occupational therapy until 3 years old and is currently still receiving physical therapy.
The participant does not have bowel or bladder control. She also exhibits both diarrhea and constipation and is taking senna and MiraLAX to treat this. The participant cannot sense when she is wet but can sense when soiled.
The participant’s neurologic exam was significant for unequal pupil size (anisocoria), low muscle tone (diffuse hypotonia), and abnormal reflexes. The participant recently developed epileptic seizures and heart muscle disease (cardiomyopathy). The participant’s epileptic seizures are treated with Keppra and her heart muscle disease (cardiomyopathy) is treated with Carvedilol and Enalapril. She also has a family history of a sister who passed away from medical complications related to her symptoms (muscular dystrophy, hypotonia, heart defect, sensorineural hearing loss).
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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