Written by Maria Palombini

Answer: at the time of diagnosis, it should be one of the first actions you, the patient and/or caregiver, should take. Why?

Receiving a diagnosis with the word rare in it automatically denotes that there are probably fewer therapies available than for the “common forms” of the disease.  There is also the likelihood that the current treatments may not be as effective. Unfortunately, in my experience, no one (physicians, clinical support teams, etc.) will come out and directly tell you this; eventually you find out later at which point finding alternative options is even more difficult and the options are more limited. This is my story as a caregiver.  This happened to me not once, but twice.

The diagnosis of a rare cancer, rare condition, or rare disease is not only physically life threatening but also mentally debilitating. The shock, sadness, and anger can quickly diminish the ability to think clearly on how to evaluate care pathways, and doctor selection. These overwhelming emotions can demotivate one to fight. This ultimately leads to handing over all aspects of decision making for care pathways to your physician. In most cases, physicians are going to take a traditional known approach to the disease.

In the world of cancer treatment traditional approaches may look like:

1. Attempt at surgery if operable
2. Chemotherapy
3. Radiation (sometimes in combination with chemo)
4. When options 1-3 fail or the disease returns, immunotherapies are introduced
5. If immunotherapy fails, what is next? Targeted therapy based on genetic mutation of the tumor
6. If there are none available, what happens next? Either an alternative treatment that may be less effective than the previous option or a clinical trial IF the patient qualifies and there is a space in the trial.

In this case. when considering participating in a clinical trial at Step 5, the patient has a higher chance of not qualifying either because the previous treatments will interfere with the trial drug and/or the health of the patient is deteriorated to the point where they cannot physically withstand trying an experimental therapy.  Most physicians would not recommend or endorse the idea of participating in a clinical trial when undergoing the traditional treatments because they are “hoping” these will work.  And when other options have failed and the disease is progressing rapidly, at times even a trial that looks promising may not begin in a timely manner. I heard it in my cases and from other patients as well.

My Story

My partner was diagnosed with a rare form of bladder cancer. The tumor was positioned in such a place that surgery would require removal of his bladder, prostrate, and a portion of his rectum, requiring two ostomy bags for the rest of his life. The recommendation was surgery for the “best shot” at a cure.

 The first attempted surgery was not successful. Chemotherapy, to shrink the tumor, was then recommended. Chemo failed. Radiation was attempted and after five grueling weeks the tumor was reduced by 30%, but not enough to guarantee that a colostomy could be avoided, and surgery was recommended again. In prepping for surgery, it was discovered that tumor had grown into the pelvic wall and a major artery.  Even with the prior surgery, chemotherapy and radiation, it had become inoperable. Immunotherapy was recommended and treatment started.

Finally, 12 months after the initial diagnosis, I asked the oncologist about two key things:

1) has a genetic mutation study been done on the tumor tissue?

2) What clinical trials are available to him?

I informed the physician about ones I had found at reputable institutions that were actively recruiting. At the time his physical condition was still considered good. A genetic mutation study was then done. It revealed that my beloved had a highly rare mutation with no targeted therapy available and that it would be resistant to chemotherapy…12 months too late.

With regards to clinical trials, the oncologist and cancer center researcher both recommended continuing with the immunotherapy because it appeared to be working and they are “hoping” [exact words] it would work. I argued that his ability to live should not be based on hope but rather more options to save his life. Their resistance to the idea dissuaded my partner from exploring the trial option because he felt that we should trust their opinions.

Four months later the immunotherapy was no longer working. I asked about putting him in a clinical trial and the oncologist responded that his health had declined and most likely he would not qualify for a trial. At the time, I did not accept that response and went on to seek trials and the clinical trial investigators confirmed that his health was too far in decline to participate in the study. It was too late. Three months after that he succumbed to the disease.

Lessons Learned in a Very Hard Way

1. As a patient or caregiver, you need to ask “why” at every single point in the process; even when the answer is obvious. We need to question our doctors; they are not perfect. The reality is in many cases patients and caregivers quickly learn more about the disease – research, symptoms, medication reactions – then some doctors. The doctors know science journal publications, peer-reviewed papers, and from attending conferences – the latest approved therapies, etc. They are looking for “established” options to recommend for their patients; they are not fully aware of all trials especially if they are not practicing in research institutional hospitals.
2. Empower yourself with information and don’t be afraid to seek alternatives even if your doctor may not think it is the right course. Again, doctors don’t know everything. I have heard in three different cases and one in another rare cancer case that when patients and caregivers took it upon themselves to participate in a trial because other options were not likely to work, that those patients were all able to achieve remission.
3. Do research on reputable medical websites such as accredited research hospitals or institutions, non-profit foundations and patient support groups. Patient support groups offer a wealth of knowledge on symptoms, medication reactions, and alternate treatments/diets that have worked for the condition. Patients and caregivers usually come to know more about the intricacies of their disease then the doctors who treat them.
4. Always ask “Why?” Don’t accept the status quo. Questioning the doctor does not mean you do not trust them; it means you want and need to be fully informed as to why the approach is being taken. Having done the research allows you to better evaluate if that pathway is right for you or the person you are caring for.

Why do I think trials are worth considering?

In my journey I heard of three notable stories:

Two stories came from parents of high-risk neuroblastoma survivors. While their children were undergoing traditional treatment in COG (children oncology group) hospitals it was not recommended for the children to participate in trials. In both cases, the mothers (who were the main caregivers) advocated, pushed and went against the doctor’s recommendations and placed their children in different vaccine trials while undergoing traditional treatments (in some cases). Both children are now teenagers in remission.

On another occasion, a nurse I met told me the story of her husband who was diagnosed with a rare cancer at the same time as my partner. She told me that his doctor recommended not to even attempt traditional treatments because it would not work and helped him get into a clinical trial where he would have the best shot. One year later she told me it was a “miracle” that her husband was completely cancer free and the trial medication was working. Three years later, he is still cancer free and undergoes follow -up testing every six months. She is 100% committed and certain the clinical trial was a miracle.

Lessons Learned

In my case, I learned that I started to question “why?” too late even though I knew some of the recommended treatment options would not work. I did not “push” to pursue the alternatives when we were already aware that the conventional approaches did not have a high confidence level to work. I don’t know if the trial would have saved his life but at least we would have known that we had explored EVERY option to save or extend his life with quality. He suffered and he died. I and many others have paid a very high price; this does not have to be your story too.

I want my story to be a lesson for all patients but most especially those with rare forms of a disease. This is why I am part of HealthReady™. We, as patients and caregivers, have power even when we feel these situations makes us feel powerless. We have the ability to obtain knowledge and tools that can help us explore every option. HealthReady gives rare disease patients the ability to make themselves be found for new breakthrough treatments in the form of clinical trials. The right to consent to be discovered by researchers, or to find trials for themselves and use their health data to expedite their ability to qualify for the trial is an enormous help in finding alternatives in a timely manner.

An example is a project that focuses on helping parents and patients of neuroblastoma. Visit https://neuroblastoma.gethealthready.com

All patients are invited to learn more about HealthReady where you can download the free app. https://GetHealthReady.com .

I am now readier to fight; please Get Health Ready also.

About the Author

Maria Palombini has been a lifelong caregiver to family members with rare forms of diseases and is an advocate for patient enablement. She advises on patient engagement and enablement for Health Ready LLC. HealthReady is a patient-driven clinical research online platform and app that empowers rare disease patients to access, manage and consent to share their validated data to be found for or find active recruiting clinical trials and research opportunities for their therapeutic condition. She is also founder DisruptiveRx, an information company, that educates and explains how to evaluate and implement emerging technologies into bio/pharmaceutical and medical device manufacturing operations to enhance patient outcomes. 

Disclaimer: The views and opinions expressed in this article are that of my own and do not represent any organization or group that I have been or am affiliated with.