Rare Lymphoma: More Than Just an Internal Attack

The CEO of the Cutaneous Lymphoma Foundation describes the challenges of living with the disease.

Susan Thornton entered her thirties with a renewed sense of purpose. She was working at a health care technology company and her career was thriving. But in 1991, at the mere age of 31, what started out as a simple rash turned into a cancer diagnosis.

Cutaneous T-cell lymphoma (CTCL) is one of the most common forms of T-cell lymphoma. Unlike most lymphomas, which come with distinct symptoms, such as fatigue or lymph node enlargement, CTCL manifests as a rash.

“Other than an annoying, itchy rash, there’s really no other symptoms that correlate to the disease, especially in early stage,” Thornton said.

When the rash first appeared, Thornton believed it was just a benign rash that wouldn’t go away.

“I had been going from dermatologist to dermatologist,” Thornton recalled. “I went to 5 different dermatologists, and they just diagnosed [me as having] eczema, or psoriasis, or atomic dermatitis.”

After a little more than a year, Thornton was told she had mycosis fungoides—–the most common type of CTCL. Mycosis fungoides is difficult to treat in early stages because symptoms and skin biopsies mimic other skin conditions.

“Probably not unlike anyone that gets a diagnosis of cancer, it’s unnerving and very frightening,” Thornton said. “I didn’t really expect to have any other diagnosis other than a benign skin condition. I didn’t even really connect that it was cancer—–that it was lymphoma. It was hard to wrap your head around, it totally threw me off kilter.”

Receiving a CTCL diagnosis at a relatively young age is unusual, although it does happen. Typically, patients are diagnosed in their 50s or 60s, but a growing number of people are being diagnosed at all different ages, according to Thornton.

Another anomaly of Thornton’s diagnosis is that she received it in a little over a year. For most patients with early stage disease, a diagnosis can take anywhere from 5 to 7 years.

“A lot of it has to do with the way the disease presents and even the pathology—–it mimics a lot of other skin diseases, even under the microscope,” Thornton said. “You could do all the right things, go to an expert in the field, get the best dermatopathologist, and make sure you have a fresh biopsy, and it could still come back from the pathology perspective as being undetermined––which is another reason why it’s really important to get to a specialist in the field.”

In the 1990s, treatment options for early-stage mycosis fungoides were lacking, with PUVA (psoralen and ultraviolet A) therapy being the predominate treatment.

“PUVA is a UVA light treatment with a photosensitizing agent called psoralen,” Thornton said. “You take this pill and it photosensitizes your skin, then you have to head to the light box for treatment.”

Although Thornton found treatment with PUVA to be fairly well-tolerated, it did create challenges due to its timing element.

“You have to take the psoralen with an hour of treatment,” Thornton said. “[It creates a challenge] when you’re working full-time and trying to get to a light box multiple days during the week. You’re trying to navigate and organize, and fit all that into your regular life.”

Although PUVA worked initially, it eventually stopped working. As a result, Thornton received off-label topical nitrogen mustard.

“Over the course of the first 6 or 7 years, we tried PUVA and the topical nitrogen mustard,” Thornton said. “They worked for a while and then they stopped working. My disease slowly progressed from just a rash around my waist, to plaque, to more body surface, and then ultimately to tumors.”

Typically, patients with CTCL experience only skin symptoms and no serious complications. However, approximately 10% of patients who progress to later stages develop serious complications.

“I was in a very small percentage of people diagnosed with mycosis fungoides early stage disease whose disease actually progressed,” Thornton said. “But it doesn’t progress fast; it’s a very slow progression.

“As the disease progressed my skin looked worse. Being a working woman in her 30s and having this horrific looking, nasty rash was hard. You try to cover it up to the best of your capacity and you’re not as willing to wear clothes that don’t cover your body.”

Unfortunately, as the disease continued to progress the itching got worse, Thornton said.

“The itching got more intolerable and made it really hard to sleep,” Thornton said. “That’s in addition to the physical component [of the disease] that just looks awful, and people think you have a communicable disease. It’s hard to go out in public and show your skin.

“But the itching is way more intense than anything that I had ever experienced. It sort of feels like ants are crawling from the inside out to your skin. The itch doesn’t stop until you scratch your skin raw. It’s pretty nasty.”

To help manage the symptoms, Thornton underwent a lot of complementary treatments, such as acupuncture for the itch. She also worked with a psychologist to help manage the nonclinical components of CTCL.

But ultimately, her disease began to run rampant and she was facing a stem cell transplant in 1998 as a last option if electron beam radiation was unsuccessful.

Fortunately, the electron beam radiation kept the disease under control. Thornton was also given interferon injections to help boost her immune system.

“In this disease, although it’s a lymphoma and a cancer, it is the lymphocytes that hone to the skin—–especially in the mycosis fungoides variant,” Thornton said. “Treating the disease in the skin and systemically boosting the immune system is probably the best way to treat it. We very rarely use chemotherapy unless it’s in a very advanced stage of disease.”

After living with cancer for 7 years, physicians considered Thornton’s disease to be in remission; however, CTCL was not completely rid from her body.

“Over the course of the next 10 years, I did 1 or 2 rounds [of treatment] —–it never fully went away,” Thornton said. “I had to continue treatment, so we tried a variety of different treatments that were on the market at the time. I did a lot more electron beam radiation and interferon––mostly off and on––for a 10-year window. I still have a little residual disease that I manage with topical steroids.”

Mycosis fungoides also differs from other cancers in that a patient can see for themselves if the treatment is working.

“You can visibly see it,” Thornton said. “I had tumors over my eye and scalp, all over my face, all over my body. We did the different rounds of radiation and [the tumors] started to dissolve. Kind of a horrible process but it works for some people.”

After the treatment rounds, Thornton began to see her skin return to its normal state.

“All of a sudden I had my skin and face back,” Thornton said. “Most people look at me today and can’t really believe that I had such intensive disease. If people knew me then, they were pretty freaked out when they saw me.”

Staying positive can be especially challenging for patients with CTCL because of how visible the disease is. For Thornton, she found solace through exercise, therapy, and research.

“In the '90s there really wasn't an early internet, so there wasn't a lot of opportunities to learn,” Thornton said. “But I was trying to learn how to keep myself as healthy as I possibly could. I stayed very active. I was a runner, an athlete—–I liked to play tennis.

“I tried my best to educate myself on managing the disease, managing my skin, managing my own health and wellness. I [also] worked with a psychologist for a while. I worked with other professionals to help me deal with the mental component of it, and then I exercised because that really made me feel like I had some control.”

As a result, Thornton submersed herself into different advocacy groups as she battled her disease.

“After I came out of the really challenging part of the disease in ’98, I wanted to give back,” Thornton recalled. “I signed up with the Leukemia & Lymphoma Society Team in Training, and did my first triathlon in 2001 to raise money for cancer research.”

Thornton served on the board of her local chapter of the Leukemia & Lymphoma Society for several years and became very involved in the coaching aspect of the triathlon.

In 2008, she was invited by her physician Dr Stuart Lessin—–who helped Judy Jones start the foundation––to join the board of the Cutaneous Lymphoma Foundation. Thornton welcomed the opportunity because she could give back to her own disease in a specific way.

Thornton left her health care technology job in 2011 to work fulltime with the foundation.

Now 58, the Philadelphia resident is the CEO of the Cutaneous Lymphoma Foundation. “It wasn’t really what I had anticipated, but it’s been a great ride,” Thornton said.

The Cutaneous Lymphoma Foundation aims to provide patient education, patient connection, updates on the latest science in the field, and new treatments.

“Our primary focus and one of the visions that Judy had when she started back in 1998 was to really connect people with each other, because this disease is very isolating and people feel very much alone,” Thornton said. “Even though today you have a lot of access through the internet, it is such a challenging disease on multiple levels. It's critical that people know they're not alone and they're not isolated.”

CTCL is a rare cancer that crosses with both dermatology and oncology. It is important for patients to be educated on their disease and learn how to take care of their skin. Additionally, working with the right physician, receiving the correct diagnosis, and staying knowledgeable about the disease allows patients to work with their clinicians to choose the best treatment.

“We also support research in a small way, and hopefully we will be able to do that in a bigger way down the road,” Thornton said. “We [also] support people around the world because it is a rare disease, and we're the only organization globally. We try to do our best to provide as much information in different languages as possible and sometimes that gets challenging from a funding perspective, but it's pretty much education, awareness, and empowerment.”

Thornton stressed the importance of advocacy and the need for patients to take charge of their disease.

“From an individual perspective, we know our bodies the best, we understand our life and the things that impact us,” Thornton said. “I think advocating for yourself as an educated patient is really important, because then you can have a good dialogue with your clinical team and come up with the best possible treatment plan. I think advocating for yourself is the best way to be as healthy as possibly when you're living with a chronic condition.”

Current treatment options for patients with mycosis fungoides and Sézary syndrome—–the other type of CTCL––include photodynamic therapy, radiation, chemotherapy, biologic therapy, targeted therapy, and other drug therapies.

“Now we have all these new immunotherapies and all these exciting, different, non-chemo treatments that are much more tolerable,” Thornton said. “They don't have the typical side effects, [and] can actually target a more advanced and aggressive disease, which is great.”

One drug that showed promise in the treatment of CTCL is brentuximab vedotin (Adcetris). In the phase 3 ALCANZA study, positive results demonstrated the efficacy of brentuximab vedotin demonstrated in patients with CTCL. As a result, Seattle Genetics submitted a BLA to the FDA for brentuximab vedotin to treat the disease.

Thornton commented on the trial saying, “We are very excited because it's really one of the first new targeted therapies in cutaneous lymphomas. I think once we get final approvals, it's going to have a major impact on patients, particularly those with more resistant disease where some of the light treatments and topical treatments may not be as effective. We don't know yet, but it will be great to see how things go after the label approval comes through. Just based on the data from the ALCANZA trial, it is very promising.”

For patients newly diagnosed with CTCL, Thornton suggests remaining calm and learning the ins-and-outs of the disease.

“I would say try not to freak out too much,” Thornton said. “It's very important to know the specifics of your diagnosis—–what variant do you have then what stage––because those 2 things combined will have an impact on your treatment plan and probability for progression. Most people that are diagnosed with mycosis fungoides in the early stage of disease don't progress, so it just becomes a chronic disease that you have to manage.

“Educating yourself, learning about the disease, and being able to digest the information over the course of time is important,” Thornton said. “And learning your own body, watching your disease, and understanding how it manifests will really help an individual to have the best discussion with their physician or their care providing team.”

Thornton also warns that patience is a virtue, because it can take a while for treatments to begin working.

“It’s not something that you start on treatment and wham, bang, you see a result,” Thornton said. “You have to be patient.”

Of course, like any treatment, there are obstacles patients may face, one of which is health insurance.

“I think one of the biggest challenges—–at least in the US––is insurance coverage,” Thornton said. “Folks need to become very knowledgeable about what their insurance will and will not cover, and educate themselves. There are a lot of financial assistance and support options out there that most people don't know exists if they've not had any kind of disease in the past.”

This is an area the Cutaneous Lymphoma Foundation works to address by helping patients locate and access additional support and resources.

“[CTCL] is a rare disease, and a lot of our treatments are expensive,” Thornton said. “It’s important to understand your insurance coverage and how to apply for the best current financial assistance that you can. Look at all your options.”

Most importantly, Thornton stresses not to let the disease define who a person is.

“I think you can live a really full and wonderful life even though you have this disease; the disease doesn’t define you,” Thornton said. “Educate yourself and become knowledgeable. It’s your best defense, in addition to a great care team and getting to a specialty practice with health care professionals that see a lot of cases of the disease.”