1. What is the Appendix Cancer Pseudomyxoma Peritonei (ACPMP) Research Foundation?
The ACPMP Research Foundation is a charitable organization created in 2008 by a community of individuals affected by appendix cancer, pseudomyxoma peritonei (PMP) and related peritoneal surface malignancies. The mission of the foundation is twofold: to fund research to ultimately find a cure for these rare diseases, and to fund and support educational programs for physicians, clinicians, patients, family members and caregivers.
Since research is a main focus of the foundation, it funds two $50,000 grants each year to encourage and support clinical studies designed to either improve the diagnosis of AC/PMP or to enhance treatment options available to patients. These grants are intended to initiate preliminary scientific studies and/or clinical research which can then be used as a springboard to obtain additional funding from the National Institutes of Health, other funding agencies or corporate sponsors.
The foundation is largely an all-volunteer organization. All funding comes from fundraisers created by patients, their families and friends, as well as individual donations from family members in honor or in memory of loved ones.
2. What does ACPMP do to the body and what are the symptoms patients typically face? What is their long-term outlook?
Appendix cancer originates in the cells lining the inside of the appendix. There are a number of different tumors of the appendix depending on the type of cells involved. The different types of disease exhibit different behaviors, with some being slow growing, while others are more aggressive. The type of tumor affects the type of treatments feasible for the patient.
Pseudomyxoma peritonei is a type of appendix cancer characterized by the presence of mucin, a gelatinous material surrounding the cancer cell that makes it difficult for chemotherapy drugs to penetrate. Cells from a mucinous tumor leak into the abdominal cavity and implant on the peritoneum or other abdominal organs, replicating and producing mucin that spreads throughout the abdomen.
Many patients lack clearly defined symptoms until the disease has reached a relatively advanced stage. Appendicitis, bloating, abdominal pain, hernia symptoms and fluid in the abdominal cavity are commonly reported.
Treatment is determined by the type of tumor and the extent of the disease. Currently, the most successful treatment is a combination therapy consisting of tumor removal surgery (cytoreductive surgery or CRS) followed by localized application of heated intraperitoneal chemotherapy (HIPEC) to eliminate residual microscopic disease. This procedure is referred to as CRS/HIPEC. Some patients may have CRS without the HIPEC, depending on their individual circumstance.
The long-term outlook varies, depending on the pathologies involved. In some patients, tumor removal followed by heated chemotherapy can be curative, in others it can slow down the advance of disease for many years in some cases. There certainly are patients treated several decades ago who are thriving. In some patients, however, their disease may be too advanced to be eligible for CRS/HIPEC. Their medical team works with those patients to identify a chemotherapy or other therapeutic regimen that may slow down growth of the disease or, in some cases, remove enough of the disease to render them eligible for CRS/HIPEC. Unfortunately, depending on the pathology and extent of disease burden at time of diagnosis and treatment, there may be a recurrence. However, there are many patients who have experienced at least one recurrence who have gone on to be treated and are doing well many years later. Sadly, however, not all patients can be successfully treated.
Researchers are excited about the potential that genomic sequencing holds for AC/PMP patients, as the more tumor mutations and markers that are identified in these patients, the greater the opportunity for targeted therapies. With new options, patients may not need to rely on the very difficult combination therapy, and more importantly, for those not eligible for that type of surgery, targeted therapies may provide promising treatments.
3. What are some of the biggest challenges patients and their families deal with who have ACPMP?
Patients with AC/PMP are often misdiagnosed, and the diagnostic journey can be extremely stressful. Because these diseases are rare, very few physicians recognize that the patient’s symptoms may be indicating something other than common illnesses. For instance, in women, symptoms may initially lead to a misdiagnose of ovarian cancer, while men are often misdiagnosed as having a hernia. This delays timely and proper treatment, which may ultimately affect outcomes.
For patients who have had treatment, the prospect of recurrence may create mental health issues. Even though there may be no evidence of disease after treatment, patients are closely followed and monitored for many years, and it is often difficult to cope with that reality.
The patient’s economic quality of life can also be impacted, as many are unable to work. Recovery from surgery can take a year or longer, forcing many patients to retire early. Treatment costs alone can be a tremendous burden, even with insurance. Payer coverage of genomic sequencing is also an issue for some patients. Many promising clinical trials for targeted therapies are being developed, but genomic testing is required to determine if a patient has a qualifying mutation.
4. What resources does the ACPMP Research Foundation offer patients?
The foundation provides a wide range of resources to support patients and their loved ones, offering personal one-on-one guidance whenever possible. This assistance is especially helpful for patients trying to navigate the complex web of clinical trials that might be accessible. A new patient guide is available on the website, providing links to resources and information about critical next steps following diagnosis. Locating a physician familiar with AC/PMP is challenging, and the website features a specialist map identifying physicians by state who have experience with this rare cancer.
Additional support includes a resource page with links to educational materials, a video library of past educational events and a Facebook group with over 4,800 members. The foundation also has a Patient Advisory Council composed of patients, caregivers and advocates who provide perspectives on their experiences and feedback on various issues, while broadening the AC/PMP community of volunteers.
Education is a critical part of the ACPMP’s mission, and the foundation hosts a variety of educational events each year. Virtual webinars feature researchers and physicians who discuss new developments in AC/PMP. The foundation also partners with several prominent institutions that treat AC/PMP to host regional patient-physician symposiums. These events allow the local community to learn about the latest developments, while giving patients an opportunity to connect with one another.
Lastly, a patient registry is available to study AC/PMP and to enable patients to participate in research. A collaborative effort between the foundation and the National Organization for Rare Disorders, the registry is a natural history study patients or caregivers can complete detailing their AC/PMP journey. The goal is to give patients a voice and allow them to contribute directly to research to enhance the understanding of these diseases.
5. What outreach activities does the foundation use to connect with ACPMP families and other stakeholders?
Social media is one of the main ways the foundation communicates with its patient community, connecting with patients wherever they are through Facebook, Instagram, Twitter, YouTube, LinkedIn, TikTok and an Inspire community page where patients can ask questions anonymously.
Fundraisers and the educational symposiums held throughout the year are also part of the foundation’s outreach efforts. At least one fundraiser occurs every month, either a live event in someone’s community or a virtual webinar everyone can watch. The Patient Advisory Council also plays an active role in helping patients and caregivers meet one another, either virtually or in person. They recently launched the Appendix Cancer Allies to create local communities where people can connect.
6. What volunteer opportunities are available with the ACPMP Research Foundation? How can people support the organization?
By following the foundation on social media, liking and sharing content, people can raise awareness of ACPMP. Supporters can help expand the ACPMP community by joining the mailing list for easy access to news and events. Patients and caregivers can also share their stories on the website, providing hope and wisdom to others. Additionally, new volunteers are needed every year for the Patient Advisory Council. These positions are open to caregivers and advocates, as well as patients.
Fundraisers are also a great way to support the organization. Facebook fundraisers are easy to do and very successful, and live events can be held with help from the foundation to drive donations and publicize the event. Supporters can also shop the foundation’s online shop, as well Amazon Smile. By choosing ACPMP Research Foundation as the charity of choice on Amazon, a percentage of purchases goes directly to the foundation. Lastly, donations are always welcome to support physician and patient education, as well as research to find a cure.
7. Where can patients and families get the most up-to-date information on new advances in ACPMP?
The foundation is very active on social media, which is the best place to find the latest information about these diseases. New developments are promptly posted whether by blog post or by links directly to the information. Emails may also be sent to the foundation’s physician group and/or patient list. Additionally, the website is constantly updated, with breaking research developments posted on the research page.
8. What closing thoughts should readers remember?
Rare diseases seldom receive the attention and funding they need, and in the case of AC/PMP, there is much work to be done. Increased awareness is required among physicians, as well as patients, so when they see certain symptoms, they recognize that appendix cancer is a possibility. A better understanding of what causes these cancers is essential, so the risks can be reduced whenever possible. Funding is also needed for development of new technologies and methods for early diagnosis, as well to support the search for a cure. The foundation is always interested in collaborating and networking with stakeholders to address these challenges.
Patients need to realize they are their own best advocate. When it comes to a rare cancer, they need to make sure they are in the absolute best hands possible by seeing a specialist for treatment. Patients are encouraged to at least get a second opinion—and even more if possible. Those pursuing treatment with local hospitals can count on the foundation to advocate for them to see a specialist, but they must also step forward and advocate for themselves as well.
Although these are difficult diseases, there are patients treated 15 or 20 years ago who are doing very well today. Every year the knowledge base about AC/PMP grows, so there are many reasons to be hopeful. Patients are encouraged to reach out to the foundation at any time, as a wealth of resources and personal guidance is available to help them on their treatment journey.