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 self-published two books, titled: 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 her Girl Scouts of America Gold Award for implementing a safety evacuation plan for disabled students and injured people. She also received honorable mention in the White House’s Inaugural student film festival for her submission on her own use of technology in daily life and school. For six years, she was an active member of National Charity League Inc., a volunteer organization focused on strengthening mother/daughter relationships while volunteering in the city of San Diego. Despite her impressive accomplishments, she is just like most other teenagers in that she enjoys texting and joking around with her friends. Lilly has just started her freshman year at Whittier College, near Los Angeles, CA.
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 spams, which were painful enough to keep Lilly (and her parents) up night after night, trying to cope. As Lilly has grown, balance and coordination has become 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. For 15 years, Lilly 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 strength, resulting in involuntary tremors and compromised coordination.
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.”
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.
Lilly’s family has started an organization, called ADCY5.org, to support other families like theirs that have a child with an ADCY5 mutation. ADCY5.org has partnered with RARE Science, a non-profit research organization that focuses on accelerating the process of finding better medicines for kids with rare disease. RARE Science is working hand in hand with organizations like ADCY5 Connect to find other patients like Lilly, which brings kids closer to a cure.
If you are a caregiver or know of a patient like Lilly or are a clinician or researcher working on ADCY5, please contact RARE Science at firstname.lastname@example.org. Additionally, you can contact ADCY5.org at (email@example.com) Every patient, researcher, and clinician moves the patient community closer to new treatments.