I’m Hoping for a Better Future for Those With Amyloidosis

If you are a fresh set of eyes and have newly stumbled onto my column, welcome to the world of an amyloidosis caregiver.

My husband was diagnosed in 2013 with hereditary ATTR amyloidosis (hATTR) and had a liver transplant in 2016. As recent as five years ago, orthotopic liver transplantation was the go-to treatment for hATTR in New Zealand, where we reside, since no less invasive options were available, unlike today.

Five years is not that long ago, but in that period, new pharmaceutical drugs were developed, and today, sufferers have access to ATTR stabilizers, which work to prevent amyloid fibrils from forming, and silencers, which decrease the production of TTR, as the Cleveland Clinic explains. Additionally, if diagnosed early, fibril disruptors can be used by patients to clear ATTR amyloid fibrils.

The new kid on the block in terms of treatment, however, uses gene-editing technology. One company’s investigational gene-editing therapy, NTLA-2001, developed by Intellia Therapeutics, has shown positive results in preclinical trials and recently received orphan drug status from the European Commission.

While it’s important to stress that some investigational therapies are still in trial phases, nevertheless, the future looks promising for my children — if they can one day access treatment, that is. Currently, the cost of a few of the approved therapies is out of reach for the average person. Many people with rare diseases face this calamity of knowing a medicine might prolong their lives, but they have no means to access it.

Fortunately, for a chosen few, some pharmaceutical companies offer compassionate access to treatment. My husband is among them, and our entire family is eternally grateful.

Some questions I still wonder, though, include: Will people see a positive shift in their governments’ funding of healthcare needs for rare diseases? Will ailing people have their medicine costs fully or at least partially covered? Will insurance companies add rare disease coverage to their plans?

Some of you reading this might already have some of these options. But most people who live outside the United States and Canada do not.

I suppose that inevitable currents accompany the release of a new treatment. In the ocean of novel medicine types, when a treatment is approved and released to market, one of the main ripple effects is an extreme price tag. Realistically, we can’t expect pharmaceutical companies to provide treatment at low cost to all patients, especially in a billion-dollar market that requires research, regulatory approval, and commercialization.

Nonetheless, taking into account all of these factors, we must ask ourselves what patient access will look like. Who will hold the lock and key? Will the mechanism to unlock these treatments rest in humanity’s hands?

I envision an entity that cuts across borders to promote access to rare disease medicines, and wealthy corporations that set aside a percentage of profits to fund it. Then overpriced rare disease medications can be purchased and made available to suffering global citizens.

What I see is a type of World Medicine Organization that helps the dying stand a chance of thriving by providing much-needed treatment. Surely this isn’t just wishful thinking.

As we progress into the future, we seem to be losing sight of what is important. Life seems increasingly trivial, and no one seems to bat an eye at death anymore. Society’s posture needs a positive shift. Perhaps coming together to save lives is the answer.

“Remember there’s no such thing as a small act of kindness. Every act creates a ripple with no logical end.” — Scott Adams

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Note: FAP News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of FAP News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to familial amyloid polyneuropathy.