How a Sore Throat Led to Elizabeth’s GLA Diagnosis

By

Cat Cooke

May 28, 2021 • 3 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

"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.”

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

Together, we can make a difference.

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.