About Athina's Ride

Athina's Ride is a cycling event that starts with training rides in the spring and culminates on July 13/14th weekend. You can either complete the ride on your own, with family & friends or join our ride led by Athina Merckx on the Saturday July 13th in Penticton, British Columbia. Come join Athina and support her and other Desmoid patients in the fight to find a cure. This ride will be a casual 30 km route around Naramata bench. If you want more of a challenge raise $1000 and you will receive a free entry into the Okanagan Granfondo on Sunday July 14th and can choose from 4 distances. Ride by yourself, with some friends or along with the Okanagan Granfondo ride. You can ride indoors on a trainer or outdoors (and manually log it or use platforms like Strava to automatically upload your rides). You'll sign up, choose your distance, and start training anytime up until July 14th.

Create an account, log your training distances, and then participate on Ride Day or in one of four distances at the Okanagan Granfondo. By logging your distances and fundraising, you'll be eligible for great incentives and prizes donated by our great supporters!

Meanwhile, 100% of the proceeds raised through fundraising will benefit the Desmoid Tumour Foundation of Canada. ALL DONATIONS ARE TAX DEDUCTIBLE

Athina's Story- (updated Feb 2024)

My name is Athina Merckx and I have quite a unique story. I have a disease that affects 2 to 4 in 1 million people.

In February 2019 I noticed some pain in the back of my right knee after swim practice one day. I told my parents and they then noticed a large bump had formed on the back of my knee. I visited our family doctor and at first glance he thought it was likely a Baker’s cyst, but once he felt my leg, he knew that was not the case. I was then sent for an ultrasound, and later a biopsy. The following month doctors diagnosed me with Desmoid Fibromatosis. We consulted a doctor in Columbus, Ohio who recommended surgery, and we ultimately travelled to Columbus in April of that year. Thankfully, the surgery was successful with no complications and I was on the road to recovery, which was no walk in the park.

While recovering from surgery I developed CRPS, an incredibly painful neurological condition. This was the most painful thing I have ever felt, and it was all part of my recovery. As I began to recover the function of my leg, I started to get back to the things I loved like playing soccer and traveling. That's when one of my MRIs, that I get every three months, showed multiple tumours starting to grow back in my same leg. This time we opted for a form of chemotherapy, a port was put in my chest and I started chemo in November of 2019.

The day I started chemo was the scariest day of my life. While chemo is terrifying, the part that isn’t really talked about is how you feel every other day of the week. On the days following chemo treatments, I was sick and exhausted. Add the mental battle of thinking when's my next treatment, when am I going to feel terrible again, do I have any tests at school that week because that won’t work, and will the nurses miss the port access this week and have to try again. Every day was this mental battle for me, and I still struggle with it. I stopped chemo after one year.

Since that first treatment I have tried two different types of chemotherapies. The first one was too strong, the side effects made me visibly ill and affected every aspect of my life. I was on this drug for about a year. With a couple months break I started up on a differeent type of oral medication. This one had manageable symptoms, but the results were not positive and the tumours continued to grow. We decided to move onto a more aggressive type of treatment.

The procedure, cryoablation, essentially attempts to freeze the inside of the tumour to kill it. After my decision to go forward with this type of treament I had to rethink my plan to play soccer full time while studying at university in Vermont. Because of the cryoablation, my doctors and I decided it woud be smarter for me to stay closer to home and not continue playing soccer so far away.

So in June of 2023 I went to VGH and got the procedure done. The procedure's effects for me were manageable with minimal loss of feeling in my right calf and a couple of days off my feet. I am now a full time student at the University of Victoria after having my MRI in November 2023 and receiving the results that showed continued growth of my tumours, we have decided to stop Methotrexate and try another form of chemotherapy by pill called Vinorelbine.With the help of BC Children's and my oncologist we were able to receive this drug from the UK. Hoping for good results, the reality of this disease is the majority of the time is waiting time.

A Desmoid Story
by Carly Nichols

It was an ordinary September afternoon. I decided to lay down while my youngest was sleeping. Before I had
fallen asleep, I rolled on my stomach onto what I thought was one of my girls toys. That’s when I discovered a
decent sized lump on my abdomen, right below my ribs.
I sat up on the edge of my bed, my mind racing. It felt like my stomach had sunk to my toes. What would
suddenly appear like this? My instinct told me it couldn’t be good.
My initial diagnosis was overshadowed by an urgent need to have my gallbladder removed. I was scheduled
for surgery and they were going to remove the lump at the same time. The surgeon sent me for an ultrasound
ahead of the surgery. Then I received a call that the surgery had been cancelled and he wanted me to go for
an MRI. Then a biopsy. Then the agonizing wait. The biopsy had to be sent on to the soft tissue team at LHSC
(in London, ON) for further review and confirmation of the diagnosis. It was aggressive fibromatosis: a
desmoid tumour.
I was referred quickly to an oncologist who was well familiar with desmoid tumours. We started with a watch
and wait approach (and naproxen). With MRI’s every two to three months it didn’t take long for her to see that
my tumour was growing at a concerning rate.
It was April 2020, the beginning weeks of covid. Everything was shut down, and my oncologist called to talk
about starting chemo. I could hardly believe the words coming out of her mouth. I was only 38. So while other
people had MRI’s and surgeries canceled due to covid, mine was getting pushed through as urgent. My port
was put in and days later I was sitting in a treatment chair, staring at the wigs on display, scared and
overwhelmed. It felt like time was standing still.
I went on to have thirteen months of IV chemotherapy (methotrexate and vinorelbine). Words still fail to
adequately summarize how hard that time was. It was such an array of challenging realities: the dread of
another treatment coming, being sick all over again with increased intensity as the months passed, the nurses
failed attempts of getting my finicky port hooked up and all the anxiety it brought. I wasn’t prepared for any of
it. How could you be? I especially could not have known how hard the mental struggle of it all would be. I
would hit walls and feel like I couldn’t possibly bare another treatment. My community around me was strong
and my faith sustaining, and somehow, I made it through, one treatment at a time. The hardest thing perhaps,
was navigating a desmoid diagnosis and treatment with young children. My girls were 1 and 4 when I was
diagnosed in 2019 and I tried hard to keep life as normal for them as I could in the months and years that
followed.
The one year mark came and went and I was struggling to handle the treatments again. Physically,
emotionally, and mentally, it was such a battle and I was still scheduled for another full year. It was to be a two
year treatment plan. It seemed impossible.
In my thirteenth month I saw my oncologist for MRI results. The tumour had stabilized three months prior, with
the slightest amount of shrinkage. Well, on that June day in 2021, after 37 treatments, I heard the news that
my tumour was mostly gone! It was too small to even assign measurements to! Treatment had been
successful! I could hardly believe my ears and I don’t think I’ll ever experience the kind of shock and relief that
I felt that day. All remaining 11 months of chemo were cancelled, including my treatment that was scheduled
for the following morning.
Recovering from all that chemo sure took time. I continued having MRI’s every three months, then six months.
They continued to be clear. Each time has been such sweet relief and a tremendous gift of time and health.
My last MRI was clear enough they said I could go a whole year before seeing them again. My next check will
be in June (2024).
I used to think that our lives are defined by the choices we make. Since my diagnosis, I’ve realized that it’s
really the experiences we didn’t choose that end up defining us the most. There is beauty though, in all of it.

In the ordinary days and in the diagnosis that you could have never seen coming. We are so much stronger
than we think we are. I hope my story gives hope to those recently diagnosed, or still doing treatment, for
those caregiving or wanting to donate to the cause. Together, we can find a cure.

What is a Desmoid Tumour or Aggressive Fibromatosis?

Desmoid tumours, also called aggressive fibromatosis or desmoid-type fibromatosis, are rare and often debilitating and disfiguring soft-tissue tumours. They are characterized by a growth pattern that can invade surrounding healthy tissues, including joints, muscle and viscera. While they can arise in any part of the body, the most common sites are the upper extremities (arm, forearm, and hand), lower extremities (hip, thigh, leg, and foot), abdominal wall, thoracic areas, and the head and neck.

The severity of a desmoid tumour can vary based on the location of the tumour and the aggressiveness of its growth pattern. Desmoid tumours can cause significant morbidities, including severe pain, internal bleeding, incapacitating loss of range of motion, and, in rare cases, death.

While desmoid tumours can occur in people between 15 and 60 years of age, they are most commonly diagnosed in young adults between 30-40 years of age. Women are also 2 to 3 times more likely to develop them than men.

Source: SpringWorks (https://www.springworkstx.com/patients-families/desmoid-tumor/)

Christina’s story: The disease that lurks beneath.

Learn about Christina’s ongoing journey from diagnosis to treatment. This devastating disease affects as many as 2 to 4 people in 1 million each year. It’s so rare that most people don’t talk about it, let alone know about it. Let her story inspire you to sign up for Athina’s Ride and raise funds to help people like Athina and Christina.

DFC Logo

About Desmoid Tumour Foundation Canada (DFC)

The Desmoid Tumour Foundation of Canada (DFC) is the official Canadian charity for desmoid research.

Since our first fundraiser in May 2017, the DFC has donated $295,000 towards Desmoid research. We are dedicated to funding research to help find better treatments and ultimately a cure for this devastating disease.

Unlike more well known diseases, rare conditions like Desmoids do not receive the same amount of funding for research. Funding cutting-edge research is the only way to develop new and effective therapies. Thanks to the research underway through the US foundation DTRF and the money we have raised in Canada, we are now seeing an exciting number of new drugs and modalities to treat this condition. But there is a lot more work to be done.

Research funds distributed by the Desmoid Tumour Foundation of Canada (2017 - 2021):

2021: $40,000 CDN donated

Stanford University, California, USA ($40,000) – Gerlinde Wernig “Studying CD47 blockade as an immunotherapy for desmoid-type fibromatosis”; part 1 of 2-year study
The Global Scientific Advisory Board will meet to review new research being submitted. The studies they recommend for funding will then be reviewed by our medical advisory board and they will select which research we should support with the funds raised in 2021.

2019: $100,000 CDN donated

Stanford University, California, USA ($50,000) – Gerlinde Wernig “To evaluate whether gamma-secretase inhibitor PF-03084014 blocks JUN-mediated DTF”; $50,000 CDN

Ghent University, Belgium ($50,000) – Kris Vleminckx, MD “Identifying and Characterizing dependency factors in a genetic Xemopus tropicalis desmoid tumor model”.

2018: $85,000 CDN donated

Ohio State University, US ($85,000) – Dr. Raphael E. Pollock “The role of the tumor microenvironment in S45F desmoid tumor chemotherapeutic resistance”.

2017: $70,000 CDN donated

Hospital for Sick Children, Toronto, Canada ($40,000) – Drs. Mushriq Al-Jazrawe, and Ben Alman will conduct a single cell-derived clonal analysis of desmoid tumours to investigate tumour-stoma interactions (funds disbursed in 2018).

Duke University, North Carolina, USA ($30,000) – The creation of transgenic mice to be available to scientists globally.

Update on Funds Raised in 2021 & 2022

Our inaugural Athina's Ride in 2021 raised $132,700 to help support research into desmoid tumour therapies. That’s an unprecedented amount for a first-time charitable event and 100% of the proceeds go to the Desmoid Tumour Foundation of Canada (DFC). In year two we raised another $79,435 which makes it over $212,135 going towards research.

The first $40,000 was awarded to year 1 of Wernig Gerlinde Study Stanford School of Medicine, Department of Pathology – “Studying CD47 blockade as an immunotherapy for desmoid-type fibromatosis”

Year 2 with money combined from the 1st year the DTF committed a total of $159,000

Funded Research Grants for 2022

The following 3 grants were funded jointly between DFC and DTRF
Principal Investigator: Jonathan Noujaim, MD
Professional Title: Hematologist and Medical Oncologist, Assistant Clinical Professor of Medicine
Sponsoring Institution: Canadian Sarcoma Clinical and Research Collaboration (CANSARCC)
Proposal Title: Tyrosine Kinase Inhibitors in Desmoid-type Fibromatosis – A Canadian Multicenter
Retrospective CanSaRCC Study
Total Budget/Length: $30,000 over 1 year
DFC Funding: $19,200 CDN

Lay Abstract: Desmoid tumors (DT) are aggressive tumors predominantly affecting young people. They
can potentially cause significant pain, decreased limb mobility and invalidity. In certain individuals, DTs
can even be life threatening. Although some tumors may spontaneously shrink or remain stable without
any treatment, patients with growing tumors will require either surgery or chemotherapy. Over the last
decades, a number of drugs including hormonal blockers like tamoxifen, intravenous chemotherapy like
weekly methotrexate and vinblastine and doxorubicin and targeted therapy like imatinib have shown
various degrees of success in treating DTs. Recently, two new targeted drugs, sorafenib and pazopanib,
were approved to treat DTs. In clinical trials, DTs treated with either drug shown significant tumor
shrinkage and control over time. Since their approval and routine use in practice, there remains many
unknowns. Duration of treatment is still ill defined. Outcomes of patients who failed or stopped
sorafenib or pazopanib are unknown. Predicting which patients may respond to these novel drugs is still
a challenge. The main objective of this multicenter Canadian retrospective study is to collect real world
data to better guide physicians in managing these rare tumors.

Principal Investigator: Joanna Przybyl, PhD
Professional Title: Assistant Professor, Department of Surgery, McGill University
Sponsoring Institution: Research Institute – McGill University Health Centre
Proposal Title: Targeting hexosamine biosynthesis pathway for the treatment of desmoid tumors
Total Budget/Length: $130,000 over 2 years

DFC Funding: $41,600 CDN/year for 2 years (total $83,200)

Lay Abstract: Cancer cells rewire metabolic pathways and energy production to support the enhanced
proliferation, invasion and resistance to treatment. We recently found a remarkable enrichment of
genes involved in hexosamine biosynthesis pathway (one of the glucose metabolism pathways) in a
subset of leiomyosarcoma (LMS). We demonstrated that expression of GFPT2, the key enzyme of the
hexosamine biosynthesis pathway, is associated with poor clinical outcome in LMS. Following the study
on this pathway in LMS, we performed a large-scale immunohistochemistry screening of more than 30
different types of soft tissue tumors and we discovered nearly universal expression of GFPT2 in desmoid
type fibromatosis (DTF). Our high-throughput transcriptomic analysis of DTF and 9 other types of fibrotic
lesions identified significant enrichment of multiple genes implicated in hexosamine biosynthesis

pathway in DTF compared to the other types of fibrotic lesions. We also found a candidate effector of
the activation of this pathway in DTF, which may have a pro-oncogenic role and may be associated with
resistance to treatment.
Targeting hexosamine biosynthesis pathway was demonstrated to provide therapeutic benefit in a
number of preclinical models of cancer. Thus, our preliminary findings provide a rationale to explore the
potential of therapeutic targeting of the hexosamine biosynthesis pathway in DTF. The modulation of
glucose metabolism through hexosamine biosynthesis pathway is a promising direction of research and
our proposal offers the first functional exploration of the role of this pathway in DTF. Successful
completion of this study will hopefully lead to novel therapeutic options for patients with DTF.

Principal Investigator: Kris Vleminckx PhD, Ghent University
Professional Title: Professor (PhD) UGent, Department of Biomedical Molecular Biology
Sponsoring Institution: Ghent University, Belgium
Proposal Title: Investigating EXH2 as a druggable mediator of immune cell exclusion in desmoid tumours
Total Budget/Length: $65,000 (year 2 of 2)
DFC Funding: $41,600 CDN

Below is a lay-friendly summary of the findings and impact (or potential impact) in desmoid research
and/or patient care. At this moment we have set up several experiments to test our central hypothesis
that a molecular therapy that we found previously to mediate desmoid tumor shrinkage in a genetic frog
model, is doing this by the activation of an anti-tumor immune response. The readouts for these
experiments will become available in the next coming months. If the working hypothesis is confirmed,
this opens roads for treatment of desmoid tumor patients via immune checkpoint inhibition therapy.

The Following Grant was Funded by DFC

Principal Investigator: Rebecca Gladdy, Luninfeld-Tanenbaum Research
Institute/Sinai Health,
Professional Title: Dr Rebecca Gladdy, Assistant Professor, General Surgery, Mount Sinai Hospital
Sponsoring Institution: Luninfeld Institute/Mount Sinai Toronto
Proposal Title: Clinical Outcomes and Genetic Analysis of Sarcoma
Sub-study: Desmoid tumor and pregnancy: effect of pregnancy on disease control and effect of
diagnosis on pregnancy history. An international multicenter retrospective observational study:
Investigating EXH2 as a druggable mediator of immune cell exclusion in desmoid tumours
Total Budget/Length: $15,000 year 1 of 1
DFC Funding: $15,000 CDN

A significant proportion of female patients with a diagnosis of Desmoid Tumours (DT) have a recent
pregnancy history and on the contrary, the diagnosis of DT is often made during gestation or shortly
thereafter. Although some evidences suggest that Desmoid is modulated by hormonal signaling (i.e.
estrogens), the role of specific signaling pathways is not well understood.

Understanding the behavior of desmoids during or after pregnancy is crucial to define the safest
management of the tumor itself and of the pregnancy. Defining the impact of DT on any decision to
interrupt or avoid pregnancy and on obstetrics risk is pivotal to early define potentially worrisome
conditions. Moreover, analyzing the impact of DT on decisions regarding the pregnancy (and in turn
fertility), we will be able to implement new tools assisting and counselling women with Desmoids.
There is a growing interest in defining potential risk of recurrence or progression during or after
pregnancy and in identifying potential obstetrical risks and infertility rate of desmoid patients.
Defining the impact of pregnancy on diagnosis, progression and recurrence of DT will help defining the
best therapeutical approach to fertile patients. If we are able to define potential risk factors for tumor
progression, we could adequate the follow-up regimen and the therapeutic sequence. Understanding
the effect of Desmoids on pregnancy will also better define the risk of pregnancy/delivery and the
eventual desire to avoid pregnancy. Finally, defining the potentially detrimental psychological effect of
DT diagnosis on pregnancy planning would help providing our patients with the adequate tools for
counseling.