"We're not really sure what this is. We need to look into this more,” was the refrain Elizabeth heard over and over in her quest to understand a mysterious disease that was suddenly taking over.
From the time she was little, Elizabeth had swelling of her neck and chest. By the age of 5, the swelling had turned into a growth on her neck that doctors surgically removed. Then, for the next 27 years, life appeared to be normal.
But at age 32, Elizabeth found herself in the emergency room from an overwhelming sore throat. What started as an urgent care visit thinking she may have tonsillitis or strep throat quickly snowballed into a hospital stay, MRIs and CAT scans.
That swelling she had as a young child had reappeared. But now, decades later, that swelling had a name: GLA (generalized lymphatic anomaly), also known as lymphangiomatosis.
Elizabeth soon learned that during all of these years, she had been living with an extremely rare disease — it had just been asymptomatic. With GLA, her “lymphatic system overworks.” She explained that for most people, “their lymphatic system keeps them healthy, but mine works in excess of that. There might be places throughout my body that have more lymphatics than what the average person would have.”
Presently, Elizabeth has a visible lump on her neck, but the majority of her symptoms are unseen. It took MRIs and CAT scans to reveal the full extent of GLA’s effects: various growths throughout her body. For some people, GLA can affect their bones, appearing as lesions in imaging, but for now, Elizabeth has remained clear of this symptom.
Elizabeth’s case is an anomaly. Most people are diagnosed with GLA as young children. Having been asymptomatic for nearly 30 years, doctors are studying her closely to learn more about the disease. For her, there are few answers, as much remains unknown.
The need for more information about GLA is what brought her to AllStripes, a company that helps patients and caregivers be part of driving forward research for rare conditions. AllStripes has developed a platform that enables rare disease patients and caregivers to access all their medical records online and contribute their de-identified medical history to further research for their condition.
“It’s an interesting take on how patients can help make a difference,” Elizabeth shared. “It didn’t cost me anything, and it’s something I could easily do and potentially have a big impact.”
One of the things Elizabeth most appreciates in her medical journey is having doctors who are curious and eager to learn more about GLA.
“It’s okay if you’re a medical professional to not know what something is. Investigate with the patient and your network. The best doctors I’ve had were ones who worked with other medical systems to try and figure out what was going on,” she says.
For this reason, she sees AllStripes’ ability to connect patients, doctors and researchers in the GLA community as a huge strength. “I have multiple doctors across multiple different platforms,” Elizabeth remarked. “It made sense to try to get all of my records in one place. I also liked the aspect that my records could be used for research. There are groups at just about every children’s hospital in the country that focus on [GLA research], but it would be good if they could interact with patients across different places.”
For others in the rare disease community, Elizabeth advises that “sometimes things sound a lot scarier the first time that you see them. There are some really great doctors in the rare disease field. There are people who have dedicated their careers to researching rare disease. Even if there isn’t a perfect answer today, that doesn’t mean that people aren’t working for an answer just a few years from now.”
