11-Year-Old Gets Life-Changing Drug for Rare Brain Disease

When Susannah Rosen couldn't kick her legs during bath time at age two, her parents knew something was deeply wrong.

Doctors discovered a mutation in her KIF1A gene, a disorder so rare that only 700 families worldwide have been identified with it. The faulty gene produces toxic proteins that slowly destroy nerve cells throughout the brain and body, causing developmental delays, vision loss, and seizures.

At diagnosis in 2016, there were no treatments. Her doctor, Dr. Wendy Chung, told parents Luke Rosen and Sally Jackson they had five years to find help before it would likely be too late.

So Luke and Sally founded KIF1A.org to connect families and build enough research data to attract scientists. Their desperate search eventually led them to the n-Lorem Foundation, a nonprofit launched in 2020 specifically to help patients like Susannah.

The foundation develops custom antisense oligonucleotide therapies for what founder Dr. Stanley Crooke calls "nano-rare" diseases, conditions affecting as few as one to 30 people worldwide. While the FDA defines rare disease as affecting 200,000 people, these ultra-rare patients have essentially zero hope of pharmaceutical companies developing treatments because the market is too small.

Susannah became one of the lucky recipients. The foundation created a personalized drug to silence her toxic gene mutation and now provides it free for life.

The Ripple Effect

The treatment represents a seismic shift in how medicine can help the most isolated patients. Since launching in 2020, n-Lorem has received over 400 applications from desperate families whose children have diseases so rare they don't even have proper names.

Dr. Crooke has personally invested $10 million developing new drugs and treating patients. Each new treatment costs about $1.2 million to develop, but patients with identical mutations can share the same medicine, making each breakthrough potentially help multiple families.

The foundation proves that even the rarest conditions no longer have to be death sentences. By focusing on diseases big pharmaceutical companies can't justify researching, n-Lorem is giving hope to families who were told their children had none.

Today, Susannah is 11 years old and receiving regular treatments. While her parents once faced a devastating prognosis with no options, they now watch their daughter benefit from a medicine that didn't exist when she was diagnosed.

The Rosen family's journey from tears in a doctor's office to a working treatment shows what's possible when families refuse to accept "nothing can be done."