Sister Trees

Program: KCNT2

Annie’s Story:

Annie is a sweet, brave and resilient girl, born in November 2023. She loves cuddles, holding hands, bath time, tasting yummy flavors and snuggles with her big and little sisters. She captures the heart of all who meet her, turning her nurses into family.

When Annie was born, her parents and midwife quickly realized something was wrong – while breathing well, full term, and high APGAR scores, she wasn’t opening her eyes, crying, latching and was demonstrating a rhythmic shoulder shrug. They made the decision to transfer to the C. S. Mott Children’s Hospital at the University of Michigan, being admitted to the NICU for what would end up being a nearly 5 month stay. Mike or Emily, her parents, stayed overnight with Annie every single one of those 133 days.

Her parents and care team quickly learned that Annie was having intractable seizures. She was intubated as the team tried to stop her seizures with increasingly high doses of sedating medications, but to no luck. The MRI came back normal with no damage and because there was no known disorder or family history, the genetics team recommended genetic exome mapping, and within a week her parents learned that she had a nano-rare KCNT2 mutation. A quick google search showed just how rare this was with only ~30 known case reports in the literature at that time.

After nearly ~6 weeks of trying to navigate her feeding intolerance and as she was diagnosed with failure to thrive and severely underweight, it was clear something was not right in her GI tract. At 8 weeks old Annie had surgery for an ileostomy and G-tube. While no physical obstruction was found, it was clear Annie had GI functional dysmotility and she began taking additional medications.

Annie’s list of challenges is long – 50%+ seizure burden, abnormal background brain activity, hypotonia, GI dysfunction, neurogenic bladder, cortical vision impairment, hypoxemia, and hypercapnia.

Once Annie came home at ~5 months old, she and her family settled into a new normal where she requires 24/7 care. It has proved challenging to find sufficient home nursing support for her, often covering the night shift on top of caring for their 2 other daughters and working. Her condition is fragile with respiratory infection season especially challenging on top of her already serious condition. Adding her BiPAP machine into her care plan (however long she can tolerate before it triggers more seizures and vomiting) has been helpful to address her high levels of CO2 in her blood. Her parents and care givers have seen an increased alertness and ability to interact. This gives them greater and greater hope at the promise of a treatment through n-Lorem.

Annie’s family understands the severity of her condition and the difficult prognosis ahead and have tremendous love for her. Her ASO treatment is truly the one hope to materially change her seizure burden and improve her quality of life.

In the meantime, Annie will enjoy the snuggles of her two sisters, mom, dad and care team. She continues to have moments of alertness that allow her the simple pleasures of play, tasting yummy things (oranges are her favorite), and getting fresh air.