‘The Road Ahead Is Going to Be Difficult, But You Are Equipped for It’

By
Taylor Kane
Feb 12, 2021 • 3 min read

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

When Lindsey’s mother was pregnant and had her first ultrasound, doctors thought her daughter’s organs were growing outside of her body. A follow-up ultrasound found this wasn’t the case, but Lindsey was prenatally diagnosed with Klippel-Trenaunay syndrome (KTS).

Lindsey grew up being treated at Boston Children’s Hospital for KTS. But in 2009, Lindsey suddenly faced a new diagnosis — it turned out Lindsey did not have KTS, but CLOVES syndrome. Like KTS, CLOVES is a type of PIK3CA-related overgrowth spectrum (PROS) disorder; a group of related conditions caused by mutations in the PIK3CA gene.

“It’s been well over 10 years, and even now in my chart, some doctors still go back and forth between Klippel-Trenaunay syndrome and CLOVES,” Lindsey says.

Since KTS and CLOVES are both PROS disorders, they are quite similar. However, Lindsey says that while KTS usually affects the lower limbs, CLOVES can cause overgrown tissue anywhere in the body and comes with a host of other symptoms, such as pulmonary embolisms, cysts, and spinal malformations. Before Lindsey’s diagnosis was reclassified, she says she was seen as an anomaly because her symptoms predominately impacted her upper body.

Upon receiving her updated diagnosis with CLOVES syndrome, Lindsey says she rejected it. A young teenager at the time, she decided she was going to continue saying she had Klippel-Trenaunay syndrome

“I was a young teenager and I was feisty and stubborn. If I’m going to have a rare disease, it’s going to have a name that matches the complexity of the disease,” she explains. “To me, Klippel-Trenaunay syndrome sounded so complicated and matched the state of what was going on in my life.”

A couple of years ago, she made the switch and began referring to her condition by its official name. She admits that for a while, she didn’t really know the differences between KTS and CLOVES but has now taken the time to learn.

Lindsey describes her teenage years as rough, but says that her health took a turn for the worse in 2019. Her arm became stuck at a 90-degree angle and many other complications began to unfold. As she started having to see new doctors, many of them had never heard of CLOVES before meeting Lindsey.

Like many rare disease patients, Lindsey feels that doctors look to her as the expert on her condition.

“You’re not only expected to be a really good patient, but a really good researcher and advocate,” Lindsey says.

She has had to do her fair share of self-advocacy as a patient and describes having to advocate for herself even more strongly because she is a woman. Lindsey explains that talking about pain as a woman is difficult: “Sometimes people assume you are being dramatic.” She finds being a female patient particularly challenging because she has to work extra hard to stand her ground and make sure her voice is heard by doctors.

A member of the Family Advisory Council for the CLOVES Syndrome Community and an AllStripes Ambassador, Lindsey feels it important to advocate for other CLOVES patients, too. Lindsey was thrilled to join the AllStripes PROS research program, which is focused on growing knowledge about this group of conditions to advance new treatments.

“I feel like it’s one of the great privileges of my life to get to be part of medical research,” she says.

These research efforts can improve diagnosis and understanding of symptoms. When Lindsey was an infant, her mother was told by doctors that she did not have to worry about her daughter experiencing pulmonary embolisms caused by her condition. When Lindsey was 11 years old, however, she had her first pulmonary embolism. Today, thanks to further research, doctors understand that both KTS and CLOVES can cause pulmonary embolisms.

Lindsey still deals with bumps in the road and expresses that her health complications and hospitalizations are never easy for her. Still, she understands her own strength as a patient and advocate. If she could go back to when she was diagnosed with CLOVES, she says she would tell herself:

“The road ahead is going to be difficult, but you are equipped for it and you are not alone in it.”

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

Join our early breast cancer registry to be counted and share your story with research.

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.

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.