Canavan Disease Diagnosis
Lee and Lori Greenwood welcomed their daughter Noa in August 2020. Born full-term and seemingly healthy, Noa’s first weeks of life passed without issue. However, at around 8 weeks old, Noa began crying much more than the average baby. Concerned she might have colic or a reflux problem, the Greenwoods took her to the pediatrician. Noa’s doctor determined she did not have colic but couldn’t identify the underlying issue.
Soon after, Lee and Lori noticed that Noa wasn’t responding to lights or movements and worried she had vision loss. “She wasn’t looking at us — she was almost looking through us,” Lee recalls. Around the same time, Noa stopped gaining weight and dropped from the 89th percentile to the 26th percentile in her age group.
Referred to an ophthalmologist, they again found no clear answer to Noa’s symptoms, and she continued to miss developmental milestones.
When she began struggling to swallow, the Greenwoods pushed for a consultation with a neurologist, initially meeting via Zoom. “Noa’s neurologist was wonderful,” Lori says. “She originally suspected hydrocephalus and recommended we bring her into the office. However, I could tell from her reaction to Noa that something else was going on.”
Noa was then scheduled for an MRI, which unfortunately took several months of waiting due to the pandemic. In the meantime, she received early intervention care via Zoom calls with different specialists.
In August 2021, a few weeks before her first birthday, Noa’s MRI appointment revealed that she had Canavan disease, a progressive, fatal, genetic disorder affecting the central nervous system.
“We received the news on Zoom,” Lee recalls. “Lori and I joined a video call having no idea that doctors were about to tell us our beautiful little daughter had a fatal disease with a life expectancy of around 10 years.”
Finding Community Support
After Noa was diagnosed, Lee and Lori began researching the disease, seeking information and support online. They found a patient advocacy organization based in Boston that supports children with Canavan and related diseases. This organization helped connect them to relevant Facebook groups and the Canavan community.
“Everyone has been incredibly supportive. They have all experienced the same diagnosis and understand what it’s like. Being involved in this community and patient advocacy has been immensely helpful for us,” Lori says.
Clinical Trial Referral
For most patients, clinical trial participation is only mentioned by doctors after standard treatment options are exhausted. However, there is currently no cure for Canavan disease and the only treatment is palliative care. For such an ultra-rare disease affecting only 1,000 children across the U.S. and the EU, research studies are hard to come by.
The day Noa was diagnosed with Canavan, a new clinical trial became available at Massachusetts General Hospital in Boston, only 30 minutes from the Greenwood’s home. Noa was immediately referred by her neurologist, and within weeks the family was in contact with the trial coordinator.
“Everything came together in a serendipitous way. The timing was right, the location was so close to us, and Noa met all the eligibility criteria to qualify for the trial, which many kids don’t,” Lee says. “It’s funny to think of yourself as fortunate when facing a disease like Canavan, but we really are.”
Since clinical research was one of the only ways Noa might be successfully treated for Canavan disease, Lee and Lori decided that joining a trial for gene therapy was the best choice for their family.
Starting Gene Therapy
Gene therapy corrects genetic information that causes illness by replacing a faulty or missing gene with a genetically engineered ‘vector’. In recent years, gene therapy has been transformative across many diseases.
Before starting treatment, Noa and her family spent a lot of time at doctors’ appointments and in the hospital for the screening process. Noa had multiple MRIs under anesthesia to ensure she would be suitable to receive this type of treatment.
In June of 2022, when Noa was almost 2 years old, she received treatment in the Canavan trial using gene therapy. Noa spent about a week in the hospital afterward and then took steroids for about six months. She continues to be monitored and has regular check-ins with her care team.
Patient Advocacy Work
Before Noa began the trial treatment for Canavan disease, Lee and Lori already understood the complexities of navigating clinical trials and the healthcare system through research and their backgrounds.
“Clinical trials can be complicated and intimidating for patients and their families, especially when there’s a power dynamic between patients and doctors that can make asking questions difficult. Many people, particularly in underserved communities, face additional barriers like language and cultural differences that we don’t,” Lori explains.
Since Noa’s participation in clinical research began, the Greenwoods have made it their mission to raise awareness for Canavan disease and empower other patients to ask questions and advocate for themselves.
“By sharing our experiences, we hope to help others feel more confident in navigating the medical system. We’re fortunate to have a supportive care team and feel a responsibility to share our journey to benefit others, not just Canavan families but anyone involved in the medical field. By sharing our story, we aim to remind those working in research of the real people they are helping,” Lee says.
“It’s important to remind researchers that when they are conducting trials, they are changing the lives of real patients. You’re not just working to treat Canavan disease; you’re working to help kids like Noa.”
Life Today for Noa & Her Family
Today, Noa is currently in the second year of the five-year clinical trial, and for the Greenwood family, the results have been incredible.
“When we found out Noa had Canavan, we never imagined that her life could be the way it is now,” Lori says. “We are so proud of her!”
Today, Noa’s parents describe her as a sweet and affectionate toddler who can walk independently, is learning her ABCs and how to count, and goes to public school every day with other children her age. Just two years ago, Canavan disease would have made these milestones unreachable for Noa.
The Greenwoods share that they are proud of Noa’s participation in the research that may one day cure Canavan’s disease, even if her treatment today is only the first step.
“We have had an amazing experience in the clinical trial with Noa so far, but we understand the nature of this disease. There is so much uncertainty — her progress could reverse unexpectedly at any time,” Lee notes.
“But through this experience, we have gotten so much better at learning to embrace the current moment as parents. Regardless of what happens in the future, no one can take away the joy I’ve had seeing Noa grow and thrive the last two years, which wouldn’t have been possible without the trial.”
Additional Resources:
To search for medical conditions in a specific location, visit our Search Clinical Trials page.
To stay informed about clinical trials, visit our Resources page.
For volunteer opportunities with CISCRP, visit our Volunteer page.
Written by Lindsey Elliott, Marketing & Communications Manager, CISCRP | lelliott@ciscrp.org
