Stories

Trapp C 11 and Hannah

October 8, 2024

A young girl sits on her front step with a backpack and pumpkins in the background.One night, Hannah experienced a cluster of seizures at around 8 months old. This began our journey to discover that she has a rare genetic mutation.
(Homozygous mutations in the membrane trafficking component TRAPPC11 causes a form of autosomal-recessive, slowly progressive limb girdle muscular dystrophy with childhood onset and high serum creatine kinase. -from Google)
Since then Hannah has worked with therapists and seen many specialists. She was definitely developing behind her peers, but slowly learning to walk alongside furniture, push anything off any surface, knock over stacked cups, etc.A young girl in a stander/wheelchair therapy device with her baby sister near by.
Around 15 months, Hannah experienced a short hospital stay due to a high fever, constipation, and not acting like herself. She had an MRI which showed major brain atrophy. She regressed back to being almost like an infant again. She couldn’t chew food, sit unassisted, and her eyes were definitely not working together to see. No one knows what happened really, considering her disease is all a bunch of questions marks. We’re all still learning from those very rare few who have this, and even in that group, the symptoms between patients varies so much.

Today, Hannah is 3 years old and starting her first year of school in the early childhood special education room at our local school. She can sit unassisted, she’s eating small bites of soft food. She still works with all therapists, and sees specialists in and out of the MD clinic at our nearby Corewell hospital. It seems as though she is slowly (very very slowly) increasing her visual field, her eyes are working together better. She’s still not grasping objects, reaching for toys, crawling, etc. She definitely lets us know when she’s upset, and when she’s happy. We continue to learn from her as she tells us her own story of Trapp C 11 related disorder.

  • Elizabeth Walker

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