“Every day matters”: What it means to have a rare disease

“Every day matters”: What it means to have a rare disease

Patients with rare disease often do not have a voice and rely on strong support from family, carers and trusted advocates. On Rare Disease Day 2021, FT3 speaks to advocates for those with a rare disease, who outline the barriers and roadblocks to obtaining a prompt diagnosis and the best possible personalized treatment.

Warnyta Minnaard is the co-founder of Missie Tumor Onbekend, the patient support and advocacy organization for patients with cancer of unknown primary (CUP) in the Netherlands. 

Cancer of unknown primary is the fourth most common metastatic cancer in the Netherlands, with about 1,400 Dutch people each year diagnosed with CUP. Missie Tumor Onbekend advocates for a specialized diagnostic and care pathway for CUP patients, better access to innovative diagnostics and (curative/palliative) care. Furthermore, we provide support to patients, share information about CUP, raise awareness and support clinical research to try to find a solution for CUP.

About 2.5 years ago my partner Hederik (age 32) suddenly became ill. It all started with a hanging eyelid and we started with a journey in the hospital to try to find out what was wrong. Unfortunately, he passed away in early January 2019 and I became a widow at age 29. Even though he was severely ill, we had no idea he was going to die as we were in the midst of an ongoing diagnostic trajectory that already took seven months. This is more often the case with a CUP diagnosis; you don’t understand that it is a diagnosis to have cancer without knowing the origins. 

Patients with CUP are an outlier in the oncology community, as they are metastatic cancer patients but the origin of their disease is unknown and therefore unfortunately their chances towards accessing treatments is still rather limited. You would expect an outlier to be uncommon, but CUP is the eighth most common cancer in the world; because this is such a diverse group of patients, it is challenging to provide a single solution. But it is clear, these patients deserve solutions; it is unbearable to be part of a patient group without evening knowing you are part of the group as your diagnosis is cancer of unknown primary and if nothing is done you will not survive. Furthermore, most cancer therapies are based on the origin of the disease, which is exactly unknown for CUP patients. More than half of CUP patients in the Netherlands pass away in less than two months, so urgency is needed.

I believe the focus should be on improving or changing diagnostics so that there is no longer a strict need to know the localization of the tumor, rather the DNA defects of the tumor cells of the metastases found in the body should become clear. So that treatment can be provided on the basis of molecular patterns and patients get an outlook and a chance towards care instead of staying in a diagnostic trajectory with no end. The developments of personalized diagnostics and treatments are exactly what CUP patients are in dire need of.

Susi Vander Wyk is executive director of Cure SMA Canada

Spinal Muscular Atrophy (SMA) is a motor neuron disease. The motor neurons affect the voluntary muscles that are used for activities such as crawling, walking, head and neck control, and swallowing. It is a relatively common “rare disorder”; approximately one in 6,000 babies born are affected, and about 1 in 40 people are genetic carriers.

SMA affects muscles throughout the body, although the proximal muscles (those closest to the trunk of one’s body – i.e. shoulders, hips, and back) are often most severely affected. Weakness in the legs is generally greater than in the arms. Sometimes feeding and swallowing can be affected. Involvement of respiratory muscles (muscles involved in breathing and coughing) can lead to an increased tendency for pneumonia and other lung problems.

Until very recently, there have been no treatments available for SMA patients. At diagnoses, they were simply told to take their children home and love them for as long as they had them.  We at Cure SMA Canada offered support for newly diagnosed families, through life and in the event of end of life, we are there as well. We advocated for access to the first treatment that came available for SMA patients and were successful to receive approval in Canada.  Unfortunately it wasn’t approved for all patients. 

Every stepping stone along the path in the Canadian approval process was faced with barriers and the need for strong advocacy to justify patient access to the only treatment for SMA. The unfortunate loss of life and function during this process was devastating.  With a progressive disease such as SMA, every day matters, every day is a loss of function and fear of what the future holds without treatment.  We are now in the process of advocating for two new treatments here in Canada, we still have patients not accessing treatment because they fall outside the criteria for these treatments and we are advocating from square one again, justifying and waiting for approval while our patients continue to experience loss of function and experience high anxiety waiting to hear if the federal and provincial governments makes their life and death decisions. When you have a progressive disease, and are experiencing loss of physical abilities, it is even more devastating to know that other jurisdictions are approving treatment.  In the meantime, we continue our work, to fight for our patient’s right to live their best life, to justify a life with treatment and hope that we are heard and considered partners in the decisions that will impact quality and quantity of life. Until we have a cure for SMA, the need for new and improved treatments will continue. Clearly involvement in clinical trials is essential for this information to be developed and available for Canadians.  We must be participants and not bystanders.

Why accessing precision medicine can be an impossible task for those with a rare disease

Why accessing precision medicine can be an impossible task for those with a rare disease

February 28 2021 marks the fourteenth international Rare Disease Day coordinated by EURORDIS. This global event offers patients, families and caregivers the opportunity to raise awareness and share their experiences of living with a rare disease and the arduous journey they often face as they seek diagnosis and treatment for their condition.

It is thought that there are around 7,000 rare or “orphan” diseases, some of which can affect as little as a handful of people worldwide. Advocacy with these small numbers can be difficult, hence Rare Disease Day is a chance to shine a spotlight on all rare diseases as the rare disease community joins together.

The relationship between personalized medicine and rare diseases is a close one – in many circumstances, personalized medicine offered the first opportunity that these patients had of effective treatment for their condition. FT3 has chosen Rare Disease Day 2021 to highlight the struggles that these patients can often face in accessing timely diagnosis and appropriate treatment, and the daily battles that their advocates engage in on their behalf. Here we present some of their stories:

“It is grossly under and mis-diagnosed”

Blaine Penny is the director and co-founder of MitoCanada, a charitable organization formed in 2010 by a group of passionate Canadian parents whose previously healthy children were given a diagnosis of mitochondrial disease. Blaine’s son Evan was one of these.

“There are minimal treatments and no cure for mitochondrial disease. Very few front line clinicians are knowledgeable about mitochondrial disease and there are only a handful of specialists in Canada. It is grossly under and mis-diagnosed, which means people do not know the root cause of the problem, and hence are not getting the best available treatment. MitoCanada estimates that only 20-30% of people with Mito get a diagnosis.

“Current treatments consist of the Mito cocktail, which is a combination of vitamin supplements to help stabilize the mitochondrial function. The Mito Cocktail is the no. 1 prescribed treatment for mito patients but one of the big challenges with this is affordability as only one province in Canada, Ontario, has a provincial Inherited Metabolic Disease Program that covers the cost. Most patients/family are burdened with these costs. Exercise is considered one of the best therapies, but unfortunately many patients (like my son Evan who is a spastic quadriplegic) cannot exercise. Evan is in 11 different clinics, takes 14 different medications and supplements, and requires around the clock nursing care. This is pretty typical of the complex mito patient and puts tremendous pressure on families to coordinate and balance care.

There is some light at the end of the tunnel; NextGen DNA sequencing is proving to be increasingly effective in diagnosing patients. But access to specialists and testing is critical. Earlier diagnosis results in earlier interventions which improves health and quality of life outcomes.”

“Patients are challenged by finding health care providers that have a deep understanding of their rare disease”

Dr Leanne M Ward is Professor of Pediatrics, University of Ottawa and Medical Director, The CHEO Genetic and Metabolic Bone Disease Clinic

I am a pediatric endocrinologist specializing in pediatric bone diseases, of which most are rare diseases. My goal in caring for such patients is to relieve pain and restore mobility.  Both surgical and medical management are needed to restore physical functioning in these disorders. But patients are challenged by finding health care providers that have a deep understanding of their rare condition, and gaining access to multidisciplinary care.  They are also challenged because the existing treatments for their disease are often symptom-targeted, and do not address the pathobiology of the condition.  By getting closer to the actual cause of the disorder and targeting that, we are better able to improve clinical outcomes in a meaningful way.

We need more education of health care professionals, with teams all working together to care for the patient, we need scientists working on the biology of the disease so that therapeutic targets can be identified, and we need clinical trials to be as streamlined and efficient as possible. As it is now, clinical trials are extremely difficult due to the multiple administrative and organizational layers that complicate the already-challenging medical care issues for those patients undergoing trials. I like the idea of “rare disease centers of excellence” that could be beacons of light for patients with rare disorders.

“There are hurdles to overcome at every stage of the BRCA journey”

Abi Jackson is a BRCA breast cancer advocate, based in Ireland. She works closely with the Marie Keating Foundation.

“Breast, bowel and ovarian are some cancers that can run in families, and occur when faulty genes pass down through generations. The lifetime risk for a woman with a BRCA1 mutation is 60-90%. These women additionally have a 40–60% lifetime risk of developing ovarian cancer. Men are often forgotten in discussions about BRCA, but they can carry cancer-causing faulty genes. A man with a BRCA1 mutation may be 3 or 4 times more likely to develop prostate cancer by age 65.

In recent years, largely thanks to the availability of genetic testing and awareness, a growing number of men and women have discovered they have the faulty BRCA gene as a result of pre-symptomatic screening. In my case, screening was offered to me and my siblings when my older sister, then 37 years, was diagnosed with breast cancer. Sadly, this was not the first or last woman in our wider family to receive this diagnosis. Having the knowledge that you are at high risk for breast and ovarian cancer is both a blessing and a burden. Like me, many opt to reduce the risk of developing cancer through surveillance and surgical procedures such as bilateral mastectomy and removal of the ovaries and fallopian tubes. Yet taking this route to protect your health is fraught with challenges at every step of the way.

There are hurdles to overcome at every stage of the BRCA journey. The first is navigating a health service that is not fit for purpose for genetic cancer patients. Getting a referral is not straightforward and often comes about by indirect channels. If you meet the eligibility criteria for genetic screening, you can choose to join a public or private waiting list for genetic counselling. As the clinical genetics service is so poorly resourced in Ireland, this can take many years. If you opt for private genetic counseling, the cost is high. With few exceptions, your care and treatment ends up occurring in silos; breast care clinic, gynaecology clinic, plastic surgery clinic, and psychology services. It is both an art and a science navigating multi-disciplinary care for a person with a faulty BRCA gene.

‘Personalized medicine is more than just medicine’

‘Personalized medicine is more than just medicine’

FT3 is unique in having patients as a fundamental and essential partner, says project member Durhane Wong-Rieger, President & CEO of the Canadian Organization for Rare Disorders 

Tell us more about yourself.

Durhane Wong-Rieger – CORD

I am President & CEO of the Canadian Organization for Rare Disorders (CORD). As head of a global alliance of rare disease patient organizations in Canada, we are committed to improving the lives of all Canadian patients and families affected by rare diseases. CORD leads initiatives to change and implement policy, collaborate to improve healthcare infrastructure, services, and access; advocate on behalf of patients for interventions, including innovative medicines, devices, and supportive services and foster research. We also increase the capacity of the patient organizations to take an active role in advocacy and support through a variety of training programs and collaborative projects. 

I am a psychologist by training and taught for about 20 years as a university professor before moving to full-time patient advocacy. I have two children born with rare conditions and a spouse with genetic heart disease and Parkinson’s Disease.

What does personalized medicine mean to you?

Personalized medicine is an “umbrella” concept that is inherent to rare diseases, whereby patients receive “targeted” care based on their individual diagnosis (disease, genetic/genomic profile, and lifestyle factors). The “rarer” the condition, the more challenging to get to a diagnosis but also the more critical to get it “precise” so the term “precision” healthcare is probably more applicable. It is more than just medicines and it may not be so much person-specific as targeted. Challenges exist on many levels, from system capacity, healthcare professional readiness, and patient awareness.  

Why do you believe this topic is important as a patient advocate?

Raising awareness and educating patients about personalized medicine is essential to accessing what is available and advocating for what could and should be available. Obviously, the patient is key in terms of seeking access and increasing capacity and willingness (that is, resources).

Why is your organization interested in participating in this multi-stakeholder collaboration? 

CORD, along with the international rare disease community, has been advancing models and centers for diagnosis, care, and treatment but also the development of innovative therapies (genetically defined and targeted). Our organization supports at the patient level development of patient registries to have patient populations available for clinical trials and to develop natural history studies as well as clinical trial design appropriate for “small, targeted” patient populations. Our organization has also been engaged in helping to define and collect patient outcome evidence, setting up access programs including new financing models for access, and promoting collaboration across all stakeholders so that innovations could be available as soon as possible but also cognizant of needs for sustainability (e.g., managed access, risk-sharing models, amortized financing).

What makes this collaboration unique?

FT3 is the first international collaboration where patients are not just equal partners but indeed an essential, fundamental partner. The patient voice and patient perspective are not just referenced but have primary status in terms of principles but also in decisions on how to proceed. 

What are your ultimate expectations from the project?

The most important short-term expectation is that all stakeholders remain committed to the collaboration and the process; we must learn how to work together effectively. Other short-term expectations are the articulation of consensual vision, principles, desired outcomes and from this platform the definition of a working process for the collaborations that translate into meaningful actions. This is all very high level so more concretely, I expect we will identify some existing best practices and transformative initiatives that can be built upon and adapted. That means we need to continue to foster an open sharing environment and avoid competition and “me-first” thinking. I think we are on the right path to get there.