Meet Lilly, a 19-year-old girl, a voracious reader, and a blossoming writer. Her favorite TV show is Glee, and she loves all things pink. She manages her own blog and has already published three books, titled: Through My Eyes, The Girl They Thought They Never Knew, and the sequel, The Girl They Always Knew. It comes as no surprise that Lilly’s favorite subject in school is English. Her other successes, beyond writing, include receiving the Girl Scouts of America Silver Award and an honorable mention in the White House’s Inaugural student film festival for her submission on the use of technology in schools. She is an active member of Ticktocker, a group focused on strengthening mother/daughter relationships and character building. Despite her impressive accomplishments, she is just like most other teenagers in that she enjoys texting and joking around with her friends. Lilly will head off to Whittier College, near Los Angeles, CA, in the fall to begin her freshman year.

While this homecoming queen’s bright personality and extensive resume will only continue to flourish, Lilly and her family have already faced a number of significant challenges. When Lilly was 18 months old, her parents noticed she had a small tremor. While seemingly harmless at first, the tremor progressed into full-body muscle spasms, which were painful enough to keep Lilly (and her parents) up night after night, trying to cope. Since then, Lilly’s muscles have gotten weaker, making balance and coordination increasingly difficult. To improve her mobility, Lilly now uses a motorized wheelchair to get around. She relies on technology to fully participate in school and other activities.

Lilly and her parents sought answers for the cause of her condition to no avail for over 15 years. She encountered numerous false diagnoses, including Cerebral Palsy and mitochondrial disease, and underwent innumerable tests and doctors’ visits, but answers remained elusive and the future was still uncertain. It was only through a special type of DNA testing, called genetic sequencing, that Lilly’s mystery illness was finally given a name. In the summer of 2012, sequencing revealed that Lilly has mutations in the adenylate cyclase 5 (ADCY5) and the dedicator of cytokinesis 3 (DOCK 3) genes. These rare genetic mutations affect Lilly’s muscles, resulting in involuntary tremors and compromised coordination.

Answers in a Diagnosis Lead to More Questions

For Lilly and her parents, the diagnosis brought many mixed emotions. While the family now has a name for Lilly’s condition and a chance to find others like her, a rare disease diagnosis means that the next steps for treatment and care are an even bigger unsolved mystery. As Lilly’s physician, Dr. Jennifer Friedman noted, “Pinpointing the genes causing Lilly’s illness is only the beginning of the journey.”

It’s a Marathon, Not a Sprint

As a very rare disease, little is known or understood about the mutations in ADCY5. There is no cure and no established model for care. At the bare minimum, like many other individuals with a rare disease, Lilly is able to receive treatment to alleviate some of her symptoms. With the help of medication, the severity of her tremors has significantly lessened. However, no treatments are currently available to address her strength and balance difficulties. While existing treatments can relieve some of Lilly’s outward symptoms, there is currently no solution for the underlying cause: the genetic mutations in Lilly’s DNA.

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