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 her body. Currently, 1 of approximately 50 diagnosed in the world (that we know of).
Current Age: 6 years old
Symptom Start/Age of Diagnosis: Symptoms started at 6 months old. Normal development prior to the start of symptoms. In June 2016, Daphne was diagnosed at the age of 1 years old.
Current Symptoms: Hypotonia, muscle weakness, strabismus, developmental delay, dysarthria and apraxia.
Interventions: Mito Cocktail(13 supplements) 3x/day, receives physical therapy, occupational therapy, speech therapy, has shoe orthotics, she sees a Neurologist, Metabolic Specialist, Ophthalmologist and Cardiologist regularly. There is no FDA approved treatment or cure. Intervention is based on symptom management.
Daphne Elle Magee was born May 23, 2015. She was a perfect healthy baby at birth.
After a couple days at home we noticed she preferred to look one direction so our pediatrician told us to lay her on different ends of her crib and turn her head. Problem fixed.
Around 3 months old she was still having difficulty holding her head up well so we changed how we held her and and really focused on building her neck strength. That also worked.
We tried solids at 4 months old, then again at 5 months and at 6 months when she refused and was not close to sitting, we asked our pediatrician what to do. She said if she is not sitting by 8 months old you will need to see a Neurologist and get physical therapy.
Without hesitation we booked PT, who quickly referred us to GI for silent reflux, who said "not it" and referred us to a Neurologist. That doctor first thought it was SMA and told us she would die by 8 months old, at this point she was 6 months old so you can imagine our fear, I just broke down crying in that appointment.
Surprisingly, we went back for a second appointment and did not get any better news. She suspected a Metabolic Disorder and ordered EVERYTHING (MRI, bloodwork, skin biopsy, muscle biopsy, EEG, etc.) and sent us to a Metabolic specialist. I cried again.
We started with bloodwork and it pointed to a mitochondrial disorder. We had so many, very long appointments trying to determine which form of Mito she had.
At 11 months old she had a Neurological regression on a trip. We suspect it was triggered by travel. Daphne lost the use of her hands arms and the ability to rollover. We did an MRI and got a Leukodystrophy diagnosis. One week later at 1 year old her genetic bloodwork confirmed her form of Mito which has two names, Leukoencephalopathy with Thalamus and Brainstem Involvement with High Lactate (LTBL) from EARS2 also called Combined Oxidative Phosphorylation Deficiency 12 (COXPD12).
This diagnosis has forever changed our family but we will not let it decide her future.
Help us find a CURE!