Sadie Smith
Gene/Diagnosis: CARS2​
Type of Disease: Ultra-rare Mitochondrial Disease caused by an CARS2 mutation.
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Current Age: 3.5 years old
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Symptom Start/Age of Diagnosis: Started with symptoms at birth, she had low birth weight, abnormal corpus callosum & hypotonia. Diagnosed at 21 months old.
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Current Symptoms: Intractable Epilepsy, Dystonia/Movement disorder, hypotonia, dysphagia (tube feeding dependent), mottling of skin, history of recurrent pneumonia, recurrent urinary tract infection’s, frequent constipation, hypothyroidism, hands/feet cold, purple, nonverbal, heat intolerance, recently diagnosed with early puberty.
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Prognosis: Unknown.
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Interventions: Physical therapy, occupational therapy, speech therapy, massage therapy, music therapy (intermittently), 24/7 nursing care, homebound schooling (teacher 1 hour/week through county school system), tube feeding, respiratory treatments (neublizer, vest, cough assist, suctioning, Flovent, bi-pap when sleeping, port.
Medications: Clonazepam, Topiramate, Mito Cocktail, Levetiracetam (Keppra), Clobazam (Onfi), Levocarnitine, Vimpat, Clonidine Patch, Diazepam Rectal Gel, Effer-k, Glycopyrrolate, Synthroid, Tobi Nebulizer, Levalbuterol Nebulizer, Ipratropium Bromide Nebulizer, Sodium Chloride Nebulizer.
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Sadie's Story
Sadie Rose Smith was born at 36 weeks in January 2018 but only weighed 3lbs 12oz. She spent 14 days in NICU where a routine MRI showed multiple brain abnormalities, including the corpus callosum and septa-optic dysplasia. Genetic tests were recommended in June 2018. We received the results in October, and it showed compound variations in both the CARS2 and ACAT1 genes.
We were told the results were inconclusive even though Sadie already had many symptoms of mitochondrial disease. We found a new genetics doctor and she ordered a muscle biopsy that was done in April of 2019. After the results came back, she recommended that we find a mitochondrial specialist to help with a diagnosis. We contacted the Mitochondrial Medicine Frontier Program at the Children’s Hospital of Philadelphia. They reviewed her medical records and genetic test and accepted her into their program. We were able to take her there one time in person on October 31, 2019. They knew of other children with CARS2 variables with symptoms like Sadie and we finally had an official diagnosis.
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Sadie was also diagnosed with ASD (Artrial Septic Defect) and (WPW) Wolf Parkinson’s White Syndrome. Both repaired in October 2020.