Lots to catch our pediatrician up on

Addyson sees her pediatrician tomorrow. This is our update for him. This is just the few months recap since he last saw her.

Addysons care team :

– CHOP:AADP Team (Dr. Magnusson – Director of Diagnostic & Complex Care). The AADP team approach has been so helpful. To have one very long APPT every few months, but to see all the needed providers and to get a team approach has been wonderful. The team includes: GI, Nutrionist, Surgery, Rheumatology, Cardiology, PT, Hematology/oncology & Pharmacist).

** We first saw the AADP Team in on JUNE 5th and then again JULY 30th.

– CHILDRENS:Neurology, NEUROgenetics

– HOPKINS:Psychology/Genetics/pulmonary

– KKI: Psychiatry

We have not seen NIH in a while, they said as long as all is going well they will take a back seat.

Surgical Update:

On June 9th Addyson had a surgery which consisted of the following:

– Stoma revision (due to an obstruction).

– Muscle Biopsy

– G Tube Placed: GI (Dr BOYLE and the AADP team are managing the G tube).

Update by Team:


  • Nocturnal Seizures – stay on Keppra – repeat EEG after Covid.
  • Mito:
    • Next appointment is December. Waiting muscle biopsy results. Currently treating with mito cocktail
      Eye appointment scheduled in September due to high eye pressure
  • Genetics:
    • Genetic Variant Finding of CHRNB2 Nocturnal frontal lobe epilepsy Autosomal Dominant // Variant: c.515 A>G p.K172R // Heterozygous // Gene Summary: The CHRNB2 gene encodes a subunit of the ligand-gated neuronal nicotinic acetylcholine receptor (nAChR). Pathogenic variants in CHRNB2 cause autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), which is characterized by clusters of brief motor seizures that occur during sleep and may be accompanied by vocalizations, hyperventilation, urinary incontinence, or other parasomnias. Some individuals experience an aura that is often described as generalized tingling, a feeling of fear, or auditory hallucinations. The onset of seizures is usually in childhood but varies from infancy to adulthood, even within the same family. Intellectual disability, learning difficulties, memory problems, and/or psychiatric issues have been reported. Most reported pathogenic variants are missense substitutions in the second transmembrane domain of the protein.
  • Nutrition:
    • Monitor ostomy output. If >1000ml per day, let me/GI know as she may requrie additional vitamin/mineral supplements. Provide the vitamin D with food. Not on empty stomach to help it get absorbed efficiently.
  • Rheum:
    • Addyson looks good! Keep taking colchicine. Follow up in 6 months.
  • AADP Team:
    • Based on your evaluation today, our team agrees with your current diagnosis of acquired autonomic dysfunction (AAD). The autonomic nervous system (ANS) is the part of the nervous system that controls your involuntary bodily functions, such as heart rate, blood pressure, digestion, and body temperature. Your body is continually working to maintain a healthy balance of your ANS. Since the functions of the ANS are “automatic”, you do not even think about them until your brain and body are unable to work together as they should.
      Recommendations to begin as soon as possible are highlighted below.

    1. Total daily fluid goal: 70-80 oz

    2. Please take Vitassium salt sticks, one capsule twice daily (250 mg sodium per capsule)

    3. Gastrostomy will be used to provide overnight hydration: 800–1000 mL of water overnight unless unable to

    demonstrate daily oral intake of 5 g sodium from regular food/Salt Sticks


    • Addyson has a diagnosis of Autonomic Nervous System Dysfunction.
    • Daily Fluid Goal: 70-80 ounces/day & Eat salty snacks such as pretzels and low fat salt crackers.


    • Continue current diet including Lactaid milk, Lactaid caplets
    • Continue Flagyl 250 mg twice daily, 2 weeks on, 2 weeks off
    • Continue omeprazole 20 mg nightly.
    • Please take Vitassium salt sticks, one capsule twice daily
    • Based on consensus of a ADP team, will approve placement of gastrostomy
    • Gastrostomy will be used to provide overnight hydration: 800–1000 mL of water
    • Dr. Boyle will write orders for hydration via gastrostomy

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