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Sawyer Monahan

Gene/Diagnosis: EARS2 Leukoencephalopathy with Thalamus and Brainstem Involvement with High Lactate (LTBL) also called Combined Oxidative Phosphorylation Deficiency 12 (COXPD12)

Type of Disease: LTBL is a rare potentially terminal brain disease but also can affect other parts of his body. Currently, 1 of approximately 50 diagnosed in the world (that we know of).

Current Age: 1 year old

Symptom Start/Age of Diagnosis: Symptoms started at 6 weeks old. Diagnosed at 3 months old.

Current Symptoms: Hypotonia, Brain Abnormalities Including Agenesis of the Corpus Callosum, Heterotopia, Epilepsy, Immunocompromised, Lactic Acidosis, Excessive Weight Gain, Fluid Retention, Swallowing Difficulties, Elevated Calcium, Kidney Dysfunction & Global Developmental Delay.

Prognosis: Unknown. 

Interventions: Feeding Tube, 5 Seizure Medications, 9 Supplements (Mito Cocktail), and 2 Nebulizer Medications. His Mito cocktail includes: Levocarnitine, Ubiquinol, NAC, Riboflavin, and Alpha Lipoic Acid. Receives Physical Therapy (PT), Occupational Therapy (OT) & Feeding Therapy. There is no FDA approved treatment or cure. Intervention is based on symptom management.

 

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Sawyer's Story

Sawyer was born in October of 2020 and diagnosed with an EARS2 genetic defect when he was just 3 months old. The first month of his life was seemingly normal (although looking back, there were some warning signs). By the time he was 6 weeks old, he started eating less and less and stopped gaining weight appropriately. His primary pediatric nurse practitioner discovered elevated liver enzymes and subsequently, high lactate. Sawyer was seen by a geneticist immediately who ran a number of blood tests to try to identify exactly what was causing the abnormalities in his labs. He was admitted to the hospital shortly thereafter to address his failure to thrive, and undergo further testing. His doctors ran a rapid genome test and discovered that Sawyer had two bad copies of his EARS2 gene - one inherited from his mom and one from his dad. His doctors stated that Sawyer would die before his first birthday.

The day before Sawyer received his diagnosis, he had his first "Mito crash". He went into lactic acidosis, his breathing got very fast and labored, and he was placed on a ventilator. His family prepared for the worst, but Sawyer pulled through and was extubated in 3 days. While he was intubated, Sawyer received a brain MRI and video EEG. It was discovered that he had a number of brain abnormalities including agenesis of the corpus callosum, heterotopia, and epilepsy. Sawyer’s initial hospitalization lasted over 2 months as his medical team worked to determine the best diet for him, combatted his ever-changing epilepsy and battled a few more bouts of lactic acidosis. During this time, Sawyer experienced a developmental regression. At the time of discharge, he was exclusively tube fed - unable to take a bottle or nurse as he was before. He also stopped crying, stopped taking his pacifier, and could no longer lift his head. His muscle tone was extremely low and he didn’t move around much at all. Developmentally, he has fewer skills than a newborn baby. He is gaining a bit of head strength, but is still very weak. Over the past 9 months, Sawyer has been in and out of the hospital many times. His disease is extremely complicated (as many mitochondrial diseases are).

 

Sawyer’s condition can change day to day and week to week. He is currently battling some issues with fluid retention, excessive weight gain, swallowing difficulties, elevated calcium, and kidney dysfunction. He continues to be extremely cute, and loves spending time with his 2 older sisters, his mom and dad, and his dog. He is special. He is rare. And he is loved.