There are a lot of ways in which the human genetic code can go wrong. Even beyond that, other conditions can plague individuals for their entire lives.
With so much out there, it’s a wonder sometimes that we live as long as we do.
Across the world, small groups of people live with debilitating conditions, often since birth. These diseases can drastically affect quality of life, with degenerative conditions worsening over time. The loss of independence for these individuals is a great concern, as are the expensive and constant treatments often required to keep maladies at bay.
And many go their entire lives without meeting anybody else like them. Rare diseases are isolating, and populations might number in the hundreds instead of the thousands. For these reasons, potential cures are dismissed by those that claim that the effort is not worth the impact. Needless to say, those living with rare diseases would disagree. Many of these patients have expressed interest in participating in clinical trials that might lead to an eventual cure.
The good news is that technology has allowed these patients to connect with stakeholders that may be able to help. Doctors, state actors, and private insurance companies can benefit from listening more to these patients and their stories. Even the FDA has run private listening sessions for individual diseases where patients are encouraged to share their experiences.
And oftentimes, a lot of the problems faced by patients suffering from rare diseases are recurring. Though the specific origins of each disease are myriad, addressing some of the quality of life issues these patients face can be commonly applied. These are times when small communities become large communities, combined voices being heard throughout the medical sphere.
None of this would have come about without patient advocacy, even for small populations. When these groups come together, it can mean better medical data, improved research, and a way to connect with people going through similar struggles.
The advent of gene therapy makes patient advocacy even more important, especially for those suffering from monogenetic disorders. As the process becomes more refined and better options become available, it’s important to ensure that certain populations have access to gene therapy options. This also comes down to the education of medical professionals—if they know that genetic remedies are available, they’ll be more likely to push an otherwise unaware patient in the right direction.
On these new frontiers, there’s a dichotomy between helping and awareness. These issues are huge, and if they’re done incorrectly, entire communities can suffer. A level of measured caution is necessary to ensure no mistakes as clinical trials move forward. And, if a gene therapy option fails, there’s usually no backup option for rare disease populations. Larger patient advocacy groups help a lot in this regard, creating ties with care centers and pharmaceutical organizations to ensure fair treatment for the people they represent.
Patient advocacy matters for any group, but rare diseases deserve special attention due to the small and scattered populations that may otherwise not receive any representation. As potential cures become more sophisticated and genetic disorders have the potential to be eliminated entirely, these special interest groups have a lot to gain—but a lot to lose if problems arise. The fact is, diseases that might be considered “beneath” large pharmaceutical companies mean everything to those living with them. And we owe it to every patient to consider the human element in every solution and give them whatever support we can.