My Desmoid Journey

My Desmoid Journey

At the age of 25, I was diagnosed with a rare, but aggressive, benign tumor – a Desmoid – that is not yet treated by a standard protocol. When surgery failed and the tumor returned less than a year later, the search for an effective treatment plan began. Below, I share my story that includes initial diagnosis and surgery, recurrence in 2016, and ongoing treatment.

The Path to My Desmoid Diagnosis

Initial Treatment: Surgery

Desmoid Recurrence Diagnosed

Ongoing Treatment: Trial and Error

Finding an Effective Treatment Plan: Doxil

Some Notes on Mobility Struggles and Triumphs

Present Day

The Path to My Desmoid Diagnosis

When I was first diagnosed with a desmoid tumor, I distinctly remember feeling relief when the recommended treatment was surgical removal. It seemed so easy:

1. Surgery is scheduled.

2. Tumor is removed.

3. Life goes back to normal.

Boy, did that end up being wrong. We are now several years into this life-changing journey. Along the way, I’ve made a fair share of “mistakes” but they’ve allowed me to learn and grow.

Ignoring the Symptoms

No ones first thought is that they have a tumor. Well, unless you are my husband. After dating for a few months, I casually mentioned that I occasionally experienced pain in my leg. He jokingly said it was probably a tumor. We laughed at the craziness of the idea. Then he told me to go to the doctor. I didn’t listen.

I was sure I had simply injured my leg and all I needed was a little TLC. A few months passed. I asked my sister – a physical therapist – for some stretches to help with the weird pangs. I did the stretches inconsistently at best.

Maddy, the encourager, doing stretches alongside me.

Finally, after a few months with no change, I decided I needed to get serious and put some real effort toward completing my stretches as recommended. I did, but as a few more months passed by the pangs continued. The stretches were not cutting it and my sister urged me to go to the doctor. I decided I could put it off a bit longer.

Lame Excuses

Ever heard this before? I didn’t have time. Nor did I have a primary care physician (PCP). Two really lousy excuses for not taking proper care of myself. But I finally hit a breaking point. I had to do something: the pain was getting worse. After experiencing pain in my leg for a year, if not more (that is not a typo), I decided it was time to see a doctor. Upon a friends recommendation, I made an appointment with her PCP. All that was left to do was wait for the appointment. The earliest I could get in was nearly three months away. Finally, the day arrived.

Desmoid Diagnosis Confirmed

The appointment was routine until I casually mentioned I experienced semi-regular pain in my leg. The doctor took a look and proceeded to measure both legs, confirming my left leg was one inch larger in diameter than the other. Things then began to move rapidly. Every day that week I was scheduled for a different test.

Monday: PCP appointment, bloodwork, ultrasound

Tuesday: X-ray

Wednesday: MRI

Friday: Biopsy

Monday: Diagnosis

Post-biopsy March 3, 2016. Laughing at my beautiful new outfit. Three days before Desmoid diagnosis.

The weekend seemed to stretch as we awaited the results. But there was one major blessing in the wait: the doctor was fairly certain of the diagnosis due to the behavior of the tumor. We weren’t left completely in the dark. And if the doctor’s assumption was correct, it was benign.

The results came back as expected: a benign desmoid tumor. Approximately one year later, we found out Caleb was right all along. It wasn’t nearly as funny this time.

Blessings in the Chaos

Some things I now know that I was clueless to a few years ago: the speed upon which my tumor was diagnosed is rare. Even more rare: the fact that it was correctly diagnosed at all.

“Desmoid tumors, a rare connective tissue tumor, occur in 5-6 people per every 1 million of the population per year, though exact numbers are hard to determine due to misdiagnosis. The diagnosis doesn’t just impact the patient, but their families and livelihoods.”

Desmoid Tumor Research Foundation

What I’ve Gained From My Mistakes

The path to diagnosis was bumpy. As I write this I can’t help but ask myself, “what were you thinking?!” The truthful answer is I wasn’t. I never expected this to happen to me – especially at the age of 25. I doubt most people do, no matter their age. But here is what I’ve gained from the experience that I hope others take to heart:

Go to the doctor. Definitely when you think something is wrong, but also routinely. Never be without a doctor you feel you can trust.

Make your health a priority. Don’t make lame excuses about why you don’t have time. Your wellness is important. Never treat it differently.

Listen to family and friends. When multiple people tell you the same thing, it’s a good idea to listen. These people love you and have your best interest at heart.

Initial Desmoid Tumor Treatment: Surgery

It was a bumpy path that led to the diagnosis of my desmoid tumor. I wish I could say that once we identified my condition it was smooth sailing, but the story simply didn’t unfold that way.

An Important Note

Before I begin to share the next part of this journey, I want to pause and share something that took my heart a little bit of time to process. At no point do I look back on this journey with regret, nor do I feel we were ever truly directed down the wrong path. Each step in this journey has served a purpose. Yes, there are things that could have happened differently. Yes, there are things I should have questioned. But, ultimately, even amidst all that, I believe we were always headed in the right direction. Why? Because I serve a loving God, and though He doesn’t promise an easy path through life, I know He is never going to purposefully lead me in the wrong direction.

My mission throughout this journey has been to live and learn along the way. As I’ve both experienced and witnessed through others, it’s how you respond to what happens that truly matters. We are where we are today for a reason. And the truth is that I have gained so much more than I have lost during the past few years. There are still points in the journey that frustrate me, but during those times, I pause and remind myself of this phrase a professor in college used to share: “you don’t know what you don’t know.”

There is still so much we (patients, caregivers, doctors, researchers, etc.) don’t know about desmoid tumors. As I am recently learning, the best we can do is to choose the next right thing. Back to the story…

Making Treatment Decisions

I’m going to pick up the story by sharing something quirky about me: the human body terrified me for a long time. I just really don’t like thinking about anything that goes on in the body for too long. When my sister was in college and worked on a human cadaver in her anatomy class, I legitimately hung up the phone if she started talking about it with me. With that in mind, it’s likely not very surprising to reveal that I didn’t want to think about the crazy tumor growing in my leg. I wanted it out and I wanted to move on with my life. But, we don’t always get what we want.

Once the diagnosis came in, I was only really working with one doctor: a surgeon. I put my full trust in him – it was my natural inclination. When he said I needed surgery, I said yes without hesitation. Well, there was some hesitation…I had a trip to the Bahamas booked and wanted to make sure we could work the surgery around that. Clearly, my priorities were not exactly where they needed to be. But truthfully, at this stage in the diagnosis, I felt like I had an easy, clearcut road ahead.

Doing the Research on Desmoids

I researched the tumor and surgery seemed to be a common form of treatment. At no point did I truly question the treatment plan. I trusted that my doctor was looking out for my best interests. And while I knew the recurrence rate was high, surgery seemed like the best choice. I optimistically (and maybe naively) believed I was going to be in the percentage of people free and clear post surgery.

What I’d Do Differently

What I failed to do was obtain a second opinion. The surgeon had operated on several desmoid tumors in the past and, given its rarity, I felt like that was significant enough to move forward. There are only two surgeons with desmoid experience in Indiana that I am aware of. What I also failed to do was heed the advice of the Desmoid Tumor Research Foundation which shares:

Ideally, patients with desmoid tumors should be evaluated by a multi-disciplinary team which includes surgeons, medical oncologists, radiation oncologists, geneticists and nurses.

Desmoid Tumor Research Foundation

Desmoid Surgical Removal

But I didn’t do these things. Instead, surgery was scheduled for April 15, 2016 (the week after my trip and exactly one week before I closed on my house). Everything went according to plan that day.

My dog wouldn’t leave my side after the surgical removal of my Desmoid.

My surgeon was able to obtain clear margins. To obtain that result, 20 percent of my muscle was sacrificed. Thankfully, while muscle cannot regrow, it can rebuild to full strength. Though it was unclear how much muscle would have to be taken, this was a known outcome going into the surgery. All in all, the day was defined a success.

The Road to Recovery

Recovery was significantly more difficult than I expected. My surgery took place on a Friday. I was told to prepare for several days out of the office so I mostly took the following week off work but did work from home when able. My mom also took the week off and stayed with me to help me adjust to the new limitations I was faced with as I recovered.

FaceTiming with Alaska. My dad took him for the week of recovery.

After a week, the brace that was supporting my leg was removed and I was able to move around more freely with the aid of crutches. The road to recovery was at its most difficult when it was time to take the crutches away. I hadn’t walked in a few weeks and something that used to seem so trivial became the most challenging part of my day. Thankfully, my sister, a physical therapist, helped guide me back through the process.

Post-surgery. The socks helped reduce swelling.

Since The Surgery

A lot has changed since my initial surgery. Nowadays, surgery isn’t the go-to treatment option. While surgery is often necessary in cases where the tumor is extremely aggressive, when it’s not absolutely necessary, doctors seem to be avoiding surgery due to high recurrence rates.

But, as every desmoid patient knows, each individual situation is unique. These tumors like to behave in their own unique way. For some people, one surgery is all it takes so the risk can be worth it. For others, even with clear margins, like my case, the tumor comes back even more aggressively and alternative treatments become the only option available.

What I’ve Learned

Since my initial treatment decision to undergo surgery, I’ve learned a lot.

Know Yourself. Maybe you feel similarly to the way I did about my body, but maybe this isn’t a barrier you need to break. For me, it was a long road transforming the outlook related to my body from fear to wonder. I’m now enthralled by all it can do and in a place where I can make better decisions for myself because I more fully understand the choices I am making.

Advocate For Yourself. Looking back, I wasn’t advocating for myself. I figured the doctor would advocate for me. The reality is, as a patient, you have to advocate for yourself. Today, I can confidently say we have a team of professionals that are looking out for my best interests, but it’s still important to advocate for myself every step of the way. When something doesn’t feel right, or I don’t fully understand why we are doing something, I have to speak up. It’s my life and, therefore, my responsibility.

Ask Questions. One of the most significant lessons I’ve learned is this: ask questions. Then ask more. And then ask more. Keep asking questions until you are confident with the direction you are headed. Find doctors that don’t mind answering question after question. They do exist, I promise.

Overall, I encourage everyone to follow this advice: Ask hard questions. Question why. Always get a second opinion. And if you are able, bring along someone you can trust and knows you well.

My hopeful wish to have surgery and move on with life did not come true. Following the surgery our watch and wait period began.

Desmoid Recurrence Diagnosed

In the year following the surgical removal of my Desmoid tumor, I became part of the 25 to 40 percent recurrence statistic. My tumor came back more aggressive than ever. The road to uncovering the recurrence was long and windy.

“While statistics may vary, about 25 to 40 percent of patients who undergo surgery can have a local recurrence (return at or near the original site).”

DTRF.org

Post-Surgery Follow Up

In the months that followed the surgical removal of my tumor, life went about as normal. I had check-up appointments with my surgeon every three months. They were brief (< 15 minutes), to the point, and left me feeling very much assured my tumor was never coming back – though not necessarily for the right reasons. Questions I raised were brushed off as needless concerns. My surgeon had performed a “perfect” surgery. That should be the end of the story. You may be sensing the frustration I felt. Here’s where I must pause and remind myself:

“At no point do I look back on this journey with regret, nor do I feel we were ever truly directed down the wrong path. Each step in this journey has served a purpose.”

MaryBeth Eiler, Initial Desmoid Tumor Treatment: Surgery

Indicators of Desmoid Tumor Growth

Six-months after surgery, I began to experience some challenges – primarily a decrease in my ankle flexibility. I have hyper-flexible ankles, so when I initially shared concerns with the doctor, he brushed it off. My ankle was still within a normal person’s range of motion. At the same time, I was prescribed Gabapentin to manage the pain I was experiencing related to nerve damage caused by surgery (nerve damage can take 2+ years to heal).

My ankle mobility continued to decline and by the end of the year, I was dead set on doing something about it. Upon request, my surgeon wrote me an order for physical therapy. January through February I completed ten physical therapy sessions. Applying the Graston Technique, we managed to increase the mobility of my ankle.

“Our unique technique and instruments enable the treatment of scar tissue and fascial restrictions during rehabilitation that allows for faster rehabilitation and with greater success when the goal is restoring range of motion, eliminating pain, and restoring normal function.”

Graston Technique

Physical therapy wasn’t easy. It was unpleasant, hard work, but it helped – at least for a while. A few weeks after “graduating” from PT, I felt my ankle constricting again. I called my PT and she had me come back in for another appointment. She took an aggressive approach to treatment that day, leaving me bruised for over a month. At that point, I decided it was the last time that treatment made sense for me.

I knew something was going on, but was oblivious to the fact that it was the tumor that had returned. There were indicators – the decreased ankle mobility, the need for physical therapy, the increased pain and need for a new medication – but I didn’t recognize them as such, yet. As this all unfolded throughout the year, my doctor continued to assure me it was part of the healing process post-surgery. Because I had no other baseline and reason not to, I believed him.

One-Year Post-Surgery MRI

Before my one-year, post-surgery follow-up appointment, I underwent an MRI to determine if the tumor had recurred. At the time of the post-surgery MRI, I was six weeks away from my wedding and the tumor being back was the last thing I wanted to deal with.

The MRI revealed two masses. My surgeon diagnosed them as scar tissue and recommended a three-month follow-up MRI to check for growth. My doctor assured me that some scar tissue is normal following surgery. In addition, he reminded me that he had performed a “perfect” surgery so it likely wasn’t the tumor growing back.

Although I had doubts, I didn’t voice them. I wanted to believe the tumor wasn’t back and what I was experiencing was my body continuing to heal itself post surgery.

Official Desmoid Recurrence Diagnosed

Three months later, I underwent another MRI. This one showed visible signs of growth in one area. There was no more denying the fact that the tumor was back. My surgeon officially referred me to an oncologist to review further treatment options.

Ongoing Desmoid Treatment: Trial and Error

During August 2016, while enjoying our third month of marriage, we received the news that the tumor was growing. It had returned with a vengence.

“The tumor tends to become more aggressive when it recurs after resection.”

National Organization for Rare Diseases, Desmoid Tumor

While surgery was not entirely ruled out at as a potential form of treatment, the aggressive recurrence indicated the tumor hadn’t responded well. It was time to pursue other options.

Meeting My First Oncologist

My surgeon knew of two oncologists in Indianapolis with Desmoid experience. One was a friend he knew I could see quickly, so he put in a referral.

During the first meeting with my oncologist, I was presented with a series of treatment options that we began to work through from least to most aggressive. All of the terms were new and unfamiliar but with everything laid out in a step-by-step manner, it seemed straightforward. We had a plan. In the midst of the unknown, this was a lifeline.

The reality of having an oncologist as one of my primary doctors didn’t settle in. Oncologists treat cancer. To distance myself from reality, I would remind myself my tumor was benign–keeping all thoughts of chemotherapy distant.

(We process based on the information we have at the time–it’s impossible to know what you know don’t. I did not know Imatinib was a form of oral chemo–the second option listed under low urgency. In fact, I wasn’t aware oral chemo pills existed.)

Desmoid tumor is called aggressive fibromatosis as it has similarities with a malignant (cancerous) tumor called fibrosarcoma. However, it is considered benign because it does not metastasize (spread) to other parts of the body.

National Organization for Rare Diseases, Desmoid Tumor

Treatment Trial and Error

Under my oncologists care, we did a trial/error approach to two drugs.

Tamoxifen

The first was Tamoxifen. I was on the drug for three months with minimal side effects before undergoing an MRI to determine its effectiveness.

The MRI revealed growth in a new area of my leg and a second Desmoid tumor was officially diagnosed.

It’s important to note that the tumor did not metastasize, it remained in the area where surgery was performed. Following the protocol recommended by MD Anderson Cancer Center, my oncologist stopped Tamoxifen and we shifted to a new treatment plan: oral chemo.

Gleevec (Imatinib)

Exactly three months after starting Tamoxifen, I began taking Imatinib, better known as Gleevec.

As I began to research the drug, my optimism that this would be our solution grew. The drug was saving lives and had transformed leukemia treatment.

When the first two-week supply arrived in the mail, some of my confidence faltered. It hit me for the first time what I had to do. I remember sitting at the kitchen table with my husband and opening the box which revealed a bright yellow bag with bold black letters that read: CAUTION: OBSERVE SAFETY PRECAUTIONS FOR HANDLING AND ADMINISTRATION.

The packaging did not make me want to put the contents inside in my body. I didn’t have much time to think. My oncologist wanted me to begin the medication the evening it arrived. I did what I had to do. I opened the container, took out the three tiny pills I would begin to take every morning and evening, exhaled a shaky breathe, looked over at Caleb, and swallowed them down.

The emotional component of the experience surprised me. It wasn’t the pills that threatened me, but their potential side effects. I was convinced they’d all hit at once. They didn’t. It took weeks for the side effects to set in as the drug built up in my system. As they set in, my pain increased and my mobility sharply decreased.

Intervention Needed Due to Mobility Loss

I was on Gleevec for approximately two months. Ultimately, neither drug aided in reducing the tumors. A few weeks after starting Gleevec, my leg pain sharply increased and it became impossible to put my full weight on my left leg. Within days of the pain ramping up, I had to use a crutch to walk. I made an emergency appointment to see my oncologist. As soon as he saw me, he rushed out of the room to call my surgeon. He wanted my surgeon to see me ASAP. He also sent me to be evaluated for blood clots. It was a Friday–the day all pertinent medical challenges occur–and my surgeon couldn’t see me until Monday.

On Monday, he didn’t have any answers. Instead he scheduled an MRI–two weeks out–and prescribed Celebrex, an NSAID, for pain management. The MRI revealed that the tumors continued growth was constricting my gastrocnemius, impairing my ability to fully straighten my leg. His recommendation was to continue Gleevec for another month before reevaluating. Another month without any hope other than, “eventually, the tumor will begin to go away” was not acceptable to me given my rapid decline in mobility. I was desperate for answers. Desperation wasn’t a bad place to be as my desperation sparked change. Before leaving the office that day, I requested all my medical records and scans. I finally understood the importance of being my own advocate.

Finding a New Team of Doctors

I knew something drastic had to happen. I felt the urgency of the situation. My doctors were not communicating and the once-clear path was now extremely hazy. My sister pushed me to give the remaining surgeon with Desmoid experience a call. Thankfully, my insurance did not require that I had a referral and while I had to wait a few weeks, I eventually got in to see L. Daniel Wurtz, MD at IU Health Physicians Orthopedic & Sports Medicine.

Dr. Wurtz ruled out surgery as an option due to complexity and referred me to his colleague, Daniel A. Rushing, MD at Indiana University Simon Cancer Center–the other oncologist in the State of Indiana with Desmoid experience. The tumor was growing increasingly close to a blood vessel and needed to be stopped before it attached and complicated things further. A few weeks later, I met Dr. Rushing and everything began to change.

Finding an Effective Treatment Plan: Doxil

In my three-hour initial evaluation with my new oncologist, we went over my entire history, all possible treatment options, and selected a new treatment plan. Having not spent that much time with all of my previous doctors combined, I knew I was in the right place.

That day–after understanding all available treatment options and their associated risks–we decided the best course of action would be to begin intravenous chemotherapy. The drug of choice? Doxil (doxorubicin liposomal). Before beginning chemotherapy, my oncologist recommended I have a port placed. When he shared this, it was near the end of the appointment. In that moment, something in me switched. I began to cry.

After everything we had just discussed, having a port placed was small potatoes, but it’s what did me in. Reflecting back, I think there was both some relief and fear in those tears. Relief that we had a plan to work off of that I understood. Fear for what was to come.

You see, my grandpa had a port when he underwent chemo and for some reason, the reality of the situation came crashing down in that moment. Prior to learning about the port, all the information seemed manageable. The port made things real. I knew what my grandpa endured and suddenly I found myself in similar shoes.

Preparing for Chemotherapy: Port Placement

In the days to follow, life went on as expected. I was slowly adjusting to being back in the office at work (during the weeks prior, I was working remotely to help manage pain). I knew I needed to get back into my normal routine. I missed my coworkers and I wanted something to feel normal during the days and weeks that were anything but.

A few days later, I received a phone call sharing details about an upcoming operation that was scheduled on Monday (just days away). I had no clue what the person on the other end of the phone was talking about. Once I hung up, I called my oncologist to find out what was happening. Turns out, my port was being placed on Monday and I was starting chemo on Wednesday. It came as a shock. I knew my doctor wanted to start treatment as soon as possible – I just didn’t expect it to happen so quickly.

Waiting for my port procedure to begin.

Monday came and went. The port was placed, and everything ran smoothly. The next day, I was back at work – still in a daze and not quite able to fully process everything happening around me.

Beginning Intravenous Chemo: Doxil

Wednesday, we headed back to the hospital – this time to begin chemotherapy. Overall, the day ran smoothly. I began to learn what a typical day in the life of a chemo patient looked like. The routine went like this: go in for bloodwork, see my oncologist, head to infusion for treatment.

My First Doxil Infusion

The very first treatment looked a bit different than the rest. For starters, I had to sign a wavier where I acknowledged what I was willingly undertaking. It wasn’t the easiest paper to sign. Thankfully, my doctor once again walked through the risks and helped me understand why they were listed (many risks have a low probability but can feel scary when shown all at the same time).

From there, I headed to infusion where I had the most wonderful nurse who walked me through every step of the process before we began. She educated me on what to expect during treatment, different strategies people used to lower side effects, and what to do once home. While it was a lot to take in, the information left me feeling empowered as a patient.

After being given a few pre-meds (to help with side effects), I began my first Doxil infusion which was given at a slower-than-normal rate to ensure my body could handle it. 

Unlimited popsicles given during treatment.

What I anticipated would be an entirely overwhelming day, ended up being completely manageable thanks to an incredible team of doctors and nurses.

Continuing Doxil Infusions

The days, weeks, and months that followed while undergoing Doxil treatments were full of ups and downs. We experienced high highs and low lows. Treatment continued on a four-week cycle for a total of 18 rounds.

My 4th round of treatment.

An update after three rounds of treatment: Baby Steps on the Desmoid Journey.

An update after six rounds of treatment: A Six-Month Progress Report.

After the seventh round of treatment, I underwent my first MRI to determine its effectiveness. The results were better than we had hoped. The tumor shrank by 25%. (Read more about our treatment decisions post-MRI.)

After the 12th round of treatment, the second MRI revealed continued shrinkage of up to 50% and further decisions needed to be made regarding treatment. It was a period I struggled to hang on but ultimately managed to push through and continue the climb.

The day I was scheduled for my 19th round of treatment, I learned I was done with treatment. While the tumor isn’t entirely gone, of the three spots it exists, one has stabilized (no longer growing or shrinking) and two were continuing to shrink (one reduced by a further 33% and the other 25%).

Celebrating being done with chemo!

Wrapping up chemo was an unexpected surprise. In the days after chemo ended, I did a lot of processing.

Some Notes on Mobility Struggles and Triumphs

A major part of my Desmoid journey has been working to regain the mobility I lost in December 2017. In one weeks time I transitioned from being able to walk on my own, to needing one crutch, to being unable to bear any weight on my left leg. Since that time, I have slowly and steadily regained some mobility through physical therapy, the use of braces, joint mobilization, and ongoing stretching and exercising. Below I’ve shared a summary of that journey in hopes that it brings encouragement – and maybe provides ideas – for anyone on a similar path.

In May of 2017, I regained enough strength to begin to take walks around the neighborhood with the aid of one crutch.

In June of 2017, I no longer needed a crutch to get around and began undergoing physical therapy. I saw my PT once a week for nearly five months. You can read about both physical therapy and working with my physiatrist in my six-month progress report.

In July of 2017, I began to use a dynamic leg brace 3x per day to slowly begin to stretch out my knee. In August, I added an ankle brace to my daily regimen.

A quick reminder to stop and celebrate victories both big and small along the way: in December 2018, one year after losing my mobility, we took a hike to celebrate progress!

I went back to physical therapy in April 2019 to work on knee and ankle mobilization. I shared about the gift of a few quick wins I gained from PT.

After a month of PT sessions, we failed to make any more progress on mobilizing my ankle. My physiatrist ordered an X-ray to see if anything was preventing progress – it held the good news that nothing in my ankle had fused. We put a hold on PT, added in some new calf stretches, and scheduled an MRI of the ankle to be sure the X-ray hadn’t missed anything.

After strapping myself into my knee and ankle brace for a year, I shared about the struggles and lessons learned.

My oncologist recommended that we schedule an appointment with my surgeon to review the MRI results. He recommended undergoing an achilles lengthen surgery – which is likely to be scheduled before the end of 2019.

Present Day

To this day, my Desmoid journey continues. It’s a daily fight worth fighting. I wouldn’t be who I am today if I hadn’t received my diagnosis. And while I wouldn’t wish the same diagnosis on anyone, I am grateful for the lessons I have learned along the way.

Want to connect?

I’d love to! You to find me on Instagram sharing about my journey. Have a question? I’d be happy to share my experience. Feel free to reach out here and I’ll get back with you.