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Participant 068

On this page, you will find information about a UDN participant.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here. While these participant pages are helpful to understand our participants’ stories, they do not begin to describe their diagnostic odysseys. A special thank you goes out to our participants and their families for sharing their experiences.


Female, age 11, with seizures, weekly episodes of confusion and hallucination, problems with coordination (ataxia), tremors, ulcerative colitis, pancreas inflammation (pancreatitis), and developmental delay caused by a change in the NBEA gene

Date of Report

Aug 25, 2021


The participant’s parents began to have concerns about her development when she stopped babbling at 3 months. She started to have different eye movements around 6 months and, when she began walking at 18 months, she walked differently (ataxic gait). She was treated with rituximab, IVIG, and ACTH, which helped her ataxia, but her different eye movements, tremor, and unsteadiness remained. She also struggled with learning how to talk, which continues to be a difficulty for her.

The participant had her first seizure (generalized tonic clonic) at 14 months, which improved after being put on valproic acid. A year later, she started having diarrhea and weight loss and was diagnosed with ulcerative colitis.  Soon after, she had daily abdominal pain with episodes of pancreas inflammation (pancreatitis). At the age of 5, she had an episode where she was very confused and unable to recognize her immediate family members. During this episode, she also stumbled and was uncoordinated. These episodes have continued and she currently has them about every week.

Symptoms / Signs
  • Problems with coordination (ataxia)
  • Tremor
  • Clumsiness
  • Global developmental delay
  • Seizures (epilepsy)
  • Neurological disorder (opsoclonus myoclonus ataxia like syndrome)
  • Episodic confusion and hallucinations
  • Sleep disturbance
  • Drooping of the left eyelid since birth (congenital ptosis)
  • Difficult swallowing (oropharyngeal dysphagia)
  • Difficulty speaking (speech motor disorder with stuttering and dysarthria)
  • GI Issues (ulcerative colitis)
  • Inflamed pancreas (pancreatitis)
Current Treatments
  • Melatonin- sleep
  • Onfi, Keppra- seizures
  • Pentasa- ulcerative colitis
  • IVIG- ataxia/neurological symptoms
Prior Treatments
  • Clonidine, clonazepam- confusion/hallucination
  • Dexamethasone, rituximab, ACTH- ataxia/neurological symptoms
  • Trazodone- sleep problems
  • Methotrexate, prednisone, Remicade, Imuran, azathioprine, Infliximab- ulcerative colitis
  • Phenobarbital, Valproate, Lamictal- seizures
  • Triamcinolone, kenalog- inflammation
  • Valproic acid- seizures
Considered treatments
  • Lamotrigine- seizures
  • Adalimumab- ulcerative colitis
Previously Considered Diagnoses
  • Autism
  • Opsoclonus myoclonus ataxia syndrome
  • Single gene disorder – non-diagnostic exome and genome sequencing
Other Photographs
Genetic Variants of Interest

In 2019, clinicians and researchers identified the following genetic change to be causing the participant’s symptoms:

Inheritance Pattern
Position (hg19)
DNA Change
Protein Change

If this participant sounds like you or someone you know, please contact us!


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