Type of Disease: Ultra-rare Mitochondrial Disease caused by a FARS2 mutation, also called Combined Oxidative Phosphorylation Deficiency-14, COXPD-14.
Current Age: 3.5 years old
Symptom Start/Age of Diagnosis: Started to show symptoms of failure to thrive and regression of skills at 4 months old, received official FARS2 diagnosis at 6 months old.
Current Symptoms: Nora is non-verbal and works hard every day to overcome her developmental delay. She has gross motor, fine motor, speech and vision delays.
Interventions: Mitochondrial cocktail 2x daily. Receives physical therapy (PT), occupational therapy (OT), orientation & mobility, speech therapy, & vision therapy.
Nora Joan Jerrels (Joan after her Grandmother) was born in December 2017 after an uncomplicated pregnancy at full gestation and passed all newborn screenings. Up until Nora turned about 3 months old she was progressing in her milestones despite her challenge to gain weight. She loved mat and tummy time, lifted her head strongly and turned from side to side, and was on the verge of giving us her first baby giggle. Nora started daycare at about 11 weeks old. At the time, Nora was making good progress to the adjustment.
In March of 2018, when cold and flu season was in full swing, Nora had contracted a respiratory illness that her little body could not overcome. She was losing weight and we were starting to see a regression of skills, including the inability to hold her head up. We had an amazing pediatrician who was very proactive and well connected to St. Louis Children’s hospital. She referred us to a GI specialist in April 2018. We went in for what we thought was a routine visit, but little did we know we would be admitted directly to the hospital. After a 3 day stay she was labeled as ‘Failure to Thrive’ and we were sent home with instructions to increase feedings.
Less than a week later, after a weight check at the pediatricians office, we were sent back to the hospital. The same genetics fellow who cared for us on the pediatric floor saw us in the hallway being admitted back to our exact same hospital room, it was like a bad omen. At that time the genetics fellow noticed Nora’s strabismus. The next day we started a full panel of blood work up including screening for metabolic disorders. From there we would continue our stay in the hospital for 8 days meeting with a number of specialist teams, including Genetics, Gastroenterologist (GI), Neurology, Cardiology, Ophthalmology, PT/OT & Speech therapy. Nora was recommended for MRI, EKG, hearing tests, and countless blood draws. Her MRI revealed to us that she had an under developed frontal lobe and a weakened corpus collosum. At this time, we still did not know what was going on with our sweet 4 month old. We were heart broken.
Day after day results would slowly come in, but nothing would explain the cause of her illness. From the metabolic panel results and the tests that were pending I deduced that the doctors were investigating a possible diagnosis of Mitochondrial Disease. To address her weight, her milk was fortified to 27kcal/oz for Nora to get enough nutrition and she was enrolled in Missouri’s Early Intervention program.
Nora’s official diagnosis of COXPD-14, FARS2 came to us the first week of June 2018. It was then we had clarity of what to expect of her life. During Nora’s first year of life she would go on to be hospitalized another 4 times. Once for hand, foot, mouth disease, twice for Croup cough (one bout with Croup was on her first birthday) and once to fully diagnose her infantile spasms (IS). She was diagnosed with IS in August of 2018.
During that time, she was treated with a very high dose of steroids which made a huge improvement on her EEG however, it caused her to stop eating solid foods and to experience extreme swelling. Vigabatrin was prescribed after the steroids to try and clean up the rest of the ‘noise’ on her EEG. This was a scary time as she had to be monitored very closely due to possible loss of peripheral vision. There was also a lot of concern around her ability to get adequate nutrition without solid foods. Doctor’s strongly suggested a g-tube for Nora but mom knew she could and would eventually eat solids again. A lovely therapist suggested to try giving tube feeding formula orally which worked incredibly for Nora. She remained on Vigabatrin for 1 year and we have not seen any spasms clinically since then. Hooray!
Nora is also followed by a GI specialist. Liver ultrasounds in November of 2018 showed that her liver was heterogenous and fibrous. The doctor explained that this means the surface of her liver looked hardened like in cases of cirrhosis. As of April, 2021 we are happy to report that Nora’s liver is much more smooth and has improved greatly!
Due to risk of infection we decided to unenroll Nora from daycare at 9 months old. We have since sought out private care in our home for her. She was and still is a champion at her therapy services. During the Missouri First Steps Program for the first 3 years of her life, Nora attended weekly PT, OT, and speech. Vision therapy was often coupled to support her other therapeutic services. Thanks to COVID her therapy sessions turned virtual in March of 2020.
At the age of 2, Nora took some of her first unassisted steps between Mom and Dad. Since turning 3, Nora has started virtual pre-school and is attending early childhood pre-school in-person starting in fall of 2021. Despite suffering from a metabolic disorder, Nora tends to have great energy levels when she remains healthy. She LOVES to play outside throwing and chasing after balls. We take frequent trips to the park for Nora to start engaging more with kids her age and to enjoy the swings. Her favorite food is the same as daddy, pizza and much to mom’s chagrin, she does not like sweets. Nora continues to bring so much joy to her family, friends, and to all of those she meets. She is truly an inspiration for someone to overcome adversity through dedication and hard work. We look forward to many more successes in her life and will never stop advocating for her and those with disabilities.