Meet our little warriors
There are over 40 cases of ASNSD in the world. Meet the young patients whose fight you can join and contribute to.
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Erik's story
Erik was born in 2024 after a perfectly healthy pregnancy and was developing normally until he was 5 month old. He started to have muscle jerks and seizures. During our first time in the hospital they could not identify through MRI, EEG and various CSF and blood tests what may cause his disease. After a comprehensive genetic testing, two months after the initial hospitalization, we have received the diagnosis of ASNSD.
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He's almost seizures free with topiramate and valproic acid. He has global developmental delay, microcephaly, hyperreflexia and involuntary movements. He loves sleeping in our arms and enjoys looking at highly contrasted images.
Tara's story
Tara was born in 2013 after a perfectly healthy full-term pregnancy and was developing normally until she began having what seemed like recurring hiccups and jerky movements when she was five months old. She was suspected of having benign myoclonic seizures at the time. Tara was also born with a tethered spinal cord and a cystic lesion at the conus medullaris, for which she underwent surgery when she was five months old to untether the filum and enable its normal ascension. During her stay in the hospital and thereafter, Tara underwent multiple MRI, EEG, and various blood tests and exome sequencing but there was no clear diagnosis received until she turned six years old. After a comprehensive whole-genome sequencing, Tara was diagnosed with asparagine synthetase deficiency.
Tara has global developmental delay, microcephaly, spasticity, and involuntary movements. She has been in Phende Gatsal school for children with special needs where she receives much love and care. Tara loves music and tight hugs, enjoys the company of her siblings and grandmothers, and has the most beautiful smile.
Kunkyi's story
Kunkyi was born in 2017 after a perfectly healthy full-term pregnancy. Like her elder sister Tara, Kunkyi was developing normally until she was six months old when she had muscle jerks and what appeared to be myoclonic seizures. Kunkyi’s MRI was normal and EEG tests did not yield any concrete diagnosis. Her blood tests showed elevated aspartic acid levels and borderline lower range asparagine levels in the cerebrospinal fluid (CSF). After undergoing a comprehensive whole-genome sequencing, Kunkyi was diagnosed, at age two, with asparagine synthetase deficiency.
Kunkyi has global developmental delay, microcephaly, spasticity, and involuntary movements. She loves being tickled, has the most lilting laugh, and enjoys the company of her siblings and her grandmothers.
Olivia's story
Olivia (18yrs) was diagnosed at 15yrs old and has mild-moderate learning differences along with ADHD. She is a vibrant, social, and thoughtful kid that loves to help others! She loves music (Taylor Swift is a favorite), dance, movies, and playing cards and board games. Olivia graduates' high school this June (2026) and will either go to community college or begin work in the service industry. Her dad and I could not be more proud of her and her hard work and perseverance!
Charlie's story
Charlie (13yrs) was diagnosed at 11yrs old and has moderate learning differences and ADHD. He is a sweet, shy, and considerate kid that loves his family, especially his sister! Charlie loves Legos, puzzles, Harry Potter (collecting wands), dinosaurs, and rocks. He will start 8th grade in the Fall (2026)- possibly in a school that supports kids with more learning needs/dependencies. His dad and I are incredibly proud of him as well as his growth, particularly in reading, which is the product of hard work and practice. This kid is very resilient!
Are you our next little warrior?
Ask your parents to contact us to feature your story here.