How is the healthcare system supporting individuals with rare diseases?

BY STEVEN KASZAB

Science has developed the ability to research, develop and create functional cures for many of our so-called “incurable diseases,” but having the ability to do something and actually doing it are two different things. Medicine has always suffered from a problem between “knowing-doing.” It is the difference between what a doctor actually does for a patient and what can be done with all that we know.

Developmental breakthroughs in medicine are allowing doctors to do things they never could imagine before. Sometimes these breakthroughs don’t fit into businesses/governmental financial or regulatory systems, meaning that it can take a long time for patients to actually benefit, time many patients may not have.

The National Institutes of Health in America invest more than $40 Billion in biomedical research each year, and the private sector twice as much. The discoveries are valued by all, but why is it so hard to use these discoveries?

Science’s ability to engineer medicines has far outpaced how these medicines are actually built, tested and put into human beings. Artificial Intelligence has assisted the community by mapping the human genome in efforts to cure various diseases.

The US Government defines rare diseases as those that affect fewer than 200,000 people in America. Some affect only a handful of people. There are over 7,000 different rare diseases, with more than 30 million people in America diagnosed with one of them. That is 10% of the US population. So, improving how society can find and care for these patients could have a great impact on future solutions.

The problem is that the health system is not flagging enough people with these diseases, while many individuals don’t even know what disease they may have, or that they indeed have a disease.  A.I. steps upfront to assist in the: recognition, tracking, analysing and identifying of these patients through computer programmed systems. Specialists input the symptoms into the machine, and often voila, a point from which a doctor can begin his medical investigation and treatment. This is a diagnostic odyssey in each individual case.

Artificial intelligence has a prominent place within our health system, including helping design new treatments, helping predict which treatment is better for which patient, screening for rare diseases with suggested diagnoses to boot.  Why are many with rare diseases often left out in the cold, to search on their own for a cure? Money! Simple.

Who makes medicines, invests millions in treatments and research for diseases?

Pharmaceutical Firms.

What are they but profit centres for: investment bankers, massive corporations and a financial structure centred upon the shareholder, and not the average Joe. Solutions can be found, but the willingness to spend way beyond what a firm can make in profits needs to be there. Sure, our DNA is constantly changing, evolving biologically. Making a drug that cures cancer may cure some, but certainly not all forms since each person is unique, their biology specific to that person.

Our health system is tied to our financial system. That is the root of it. So long as the: doctors, hospitals, researchers are tied to profit (our financial system) the necessary: technology, research and investment will not be found for those with rare diseases.

I have a disease that has no cure. My immune system is attacking the tissue in my mouth. It is sorely painful, personally transformative and damn if you could find a doctor who is a real expert in the field. Since it is rare, the institutions of industry have not found proper medicine for its management, let alone its cure. I live with it, and the disease manages: the way I eat, what I eat, how I clean my teeth, how I sleep and interact with my partner too. This disease can transfer to another. Great eh!

For those of you who have or know of someone who has a rare disease all I can say is be patient. The present day financial and healthcare systems need to change drastically, with governmental intervention in all aspects of research, planning and manufacturing of medicines. Out of the hands that care for themselves, and hopefully into the hands of those who care about you and those you love.