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: 1 years old
Symptom Start/Age of Diagnosis: Symptoms started at 5 days old. Júlio was diagnosed at 5 months old.
Current Symptoms: Muscle hypotonia and nausea
Interventions: Phenobarbital (weaning), Co-enzyme Q10, Thiamine, Riboflavin, Vitamin D, g-tube fed, physical therapy 2x/day, speech therapy 5 days/week & uses elastic bandage and auriculotherapy to help swallowing.
Júlio was born on August 15th, 2020. He had a normal uncomplicated birth and was born healthy and quite chubby at 40 weeks of gestation. When he started to breastfeed, the doctor’s noticed that he had lingual and labial frenulum, they performed a frenotomy, and everything seemed to have resolved. He managed to get breastmilk and could suck for 10 minutes. We were discharged from the maternity hospital within the first 5 days. We stayed at home for 5 days and went back to the maternity unit. That's when our nightmare began. Júlio had lost weight and wasn't sucking as he should. At our insistence, the doctor released us and asked to return to the hospital in 2 days to check on him and once again he lost weight. On that day, our hospitalization story began, on August 27th, 2020 he was 12 days old.
A nasogastric tube was placed to complement the feeding. He continued sucking for 10 minutes at each feeding and the rest of the feeding was through the tube. At 20 days, he was floppier than expected, the doctors noticed the hypotonia and began an investigation with the geneticist to find out what was happening. Several tests were performed for different conditions causing hypotonia and all the results were negative. The geneticist asked for further testing because he suspected some mitochondrial mutation. The nutrologist introduced the ketogenic diet because they thought it was the best option for mitochondrial conditions. Breastmilk was withdrawn as he stopped sucking and a gastrostomy had to be performed. The genetic test results came out when he was 5 months old.
Júlio was diagnosis with an EARS2 genetic mutation, also called Combined Oxidative Phosphorylation Defect-12 (2 copies) as both parents have the same mutation being recessive and passed it on to him. The geneticist and the neurologist removed the ketogenic diet after his diagnosis because it was discovered he should not have used this diet with this condition. Júlio lost the mobilities he had, before the ketogenic diet he interacted, laughed, babbled, played and after the ketogenic milk he was still, his eyes turned up and it was despairing to see him in that situation, he no longer cried (he emitted sound). We had to use a respirator because his disease affected his respiratory system, it was terrible to see him in that situation inside a neonatal ICU. Júlio was hospitalized in the NICU for up to 5 months and 1 day. He had to be transferred to a pediatric ICU unit to undergo a tracheostomy because, according to the doctors, he would not be able to breathe. His mom refused the tracheostomy because of her mom intuition.
After this experience, we changed hospitals and he became another child. He was moving, his eyes were no longer crossing, and he even cracked a smile. Júlio cried aloud, and it was the greatest joy to hear him cry sounds. It was a sign of relief that he was reacting. When he lifted his head for the first time it was a very big victory. He was in the pediatric ICU for 1 month and 14 days, we were discharged with Home Care to maintain his treatment at home. He does physical therapy twice a day, every day. He exercises with the speech therapist 5 days a week, uses an elastic bandage and auriculotherapy to help swallowing. He was developing very well, with much stronger muscle tone, he already had greater control of his head, but he had a seizure on July 25th, 2021 and had to be hospitalized again to undergo tests and have an evaluation on which antic-seizure medication to use. After the seizure, he lost some mobility, he still doesn't have head control again, but I think it will only be a matter of time for him to gain this skill back. A wonderful child, who we are most proud to say is our son and our hope is that everyone will see him overcoming these obstacles.