Type of Disease: Ultra-rare Mitochondrial Disease called EARS2 Leukoencephalopathy with Thalamus and Brainstem Involvement with High Lactate (LTBL) also called Combined Oxidative Phosphorylation Deficiency 12 (COXPD12).
Current Age: 2.5 months old
Symptom Start/Age of Diagnosis: Symptoms started at birth. Diagnosed at 5 weeks old.
Current Symptoms: Hypotonia, developmental delay, high lactate levels, respiratory insufficiency, mild malnutrition
Interventions: Mito Cocktail (6 supplements) 2x daily, anti-seizure medication, physical therapy (PT), occupational therapy (OT) and speech therapy. He regularly sees a neurologist, cardiologist, gastroenterologist (GI), geneticist, pulmonologist, and complex care. There is no FDA approved treatment or cure. Intervention is based on symptom management.
Maverick Russart was born on July 9th, 2021 after a normal pregnancy at 6lbs 11oz. The day Maverick was born he had some issues breathing, he couldn't regulate his temperature very well, he wasn't eating and he had to be fed by a syringe. They sent us home 3 days later and that is where our journey started.
For a week and a half, we were seeing his pediatrician daily for weight checks and bilirubin checks since he had jaundice. Ten days after he was born, it was noted that he lost a significant amount of weight. His bilirubin was abnormally high. He also wouldn't wake up to eat no matter what we did, so we had to syringe feed him, but he still struggled to eat. We have an owlet monitor and his oxygen level and heart rate kept dropping. Everyday when we saw the doctor she told us it was normal because he was a preemie so he would catch up. The pediatrician indicated as long as he wasn't turning blue, not to be too concerned. The owlet could give off false alarms.
The night of July 23rd, 2021, he was barely waking up, his oxygen level and heart rate were consistently dropping. We called 911 and he was rushed to the closest ER. Upon arriving at the ER, Maverick was very lethargic, his temp was abnormally low and his blood sugar was low. They immediately got him in a warmer, gave him sugar water thru an IV and ran blood work to check for an infection. A CT scan was performed on his brain and he was transported to the children's hospital. They ended up intubating him and they put a central line in his neck and an art line in his arm for continuous blood pressure monitoring. While they were performing these procedures and attempting to stabilize him they told us that he was septic from what they thought was an infection. His CT scan had shown a lot of oxygen loss to his brain and it was significantly abnormal so they were preparing us for the worst. Maverick was also hooked up to an EEG to watch for seizures.
Those first 4 days were the longest days of our lives. As the days past, he did not have any seizure activity. The doctors kept saying they were still worried because he was on all the highest doses of medications that were keeping him stable, he was intubated and his brain waves were still alarming. He had lactic acidosis. The doctors were puzzled by his symptoms. On the 4th day, he started showing some signs of improvement with his brain activity by becoming more alert. He had an MRI. The doctors were expecting to see oxygen loss and areas of brain damage, but there was no notable findings besides brain bleeding which was connected to trauma during birth and lactic acid. At that point, one doctor suggested an inborn error of metabolism and genetics got involved. The doctors did further tests, but we had to wait 3-6 weeks for results. That time seemed like forever!
In the meantime, Maverick was prescribed a variety of different vitamins and there were different alterations to his feeds to see if he would respond or make improvements. He was improving and eventually got transferred out of the PICU, however we still had no answers. We were just waiting....
Finally on August 9th, 2021 we got a diagnosis. He has EARS2. It was definitely a hard pill to swallow. They couldn't give us much information since there is not many known cases. Normally, the diagnosis is later in infancy. His prognosis is unknown. He was asymptomatic so far besides high lactic acid. This diagnosis was unexpected. As a preventative measure, Maverick was started on an anti-seizure medication. Other services were recommended: physical therapy (PT), occupational therapy (OT) and speech therapy.
Maverick's life is just beginning, however he is a fighter! We will continue to fight with him and support him through his diagnosis and do everything in our power to make sure he has the best care possible.