Early diagnosis is crucial in many rare diseases, so let’s keep advocating
Making our voices heard can help drive new research, treatments
According to the Murdoch Children’s Research Institute, there are more than 7,000 rare genetic diseases in the world, mostly affecting children. Additionally, about 300 million people worldwide live with a rare disease, and most of these diseases have no approved treatment.
These numbers underscore the urgent need for more research and resources for rare diseases. It’s a call to action and a reminder that unless we make a concerted effort to remove barriers to diagnosis and treatment, people will continue to needlessly die. So let’s be the change we want to see in the world.
One of the biggest challenges is delivering a correct diagnosis, because the symptoms of many rare illnesses often overlap with more common conditions. However, early detection and diagnosis are crucial for managing rare diseases. By understanding the importance of early detection, we can take proactive steps to improve a patient’s prognosis and quality of life. Genetic testing is often integral to this diagnostic journey.
When my late husband, Aubrey, noticed something was off with his taste buds, his doctor first suspected a flu shot Aubrey had a few days earlier. But when Aubrey still couldn’t taste food three months later, and after he’d lost a lot of weight, he was referred to a gastrointestinal specialist. This specialist took into account Aubrey’s family history, as Aubrey’s brother had been diagnosed with ATTR amyloidosis. A biopsy was taken from Aubrey’s stomach lining, and two and two were put together.
The emotional roller coaster of fear and uncertainty was overwhelming, but we were determined to fight this disease together.
We could’ve taken more steps to better manage Aubrey’s condition and slow its progression had we known about it earlier. Before losing taste, for example, Aubrey had already been experiencing numbness in the tips of his forefinger and thumb. We just assumed it was from working long hours on the computer.
When Aubrey was diagnosed in 2013, hereditary ATTR amyloidosis was relatively unknown here in New Zealand. Apart from the gastroenterologist who took Aubrey’s biopsy and the hepatologist who became a huge advocate for Aubrey’s subsequent liver transplant in 2016, most other specialists had to educate themselves about the intricacies of amyloidosis.
By establishing the New Zealand Amyloidosis Patients Association, Aubrey and I found a platform to share our story and advocate for awareness of the disease. This gave us a voice and the power to petition for better treatment and care for patients and their caregivers.
When I think about my four children, I’m filled with a newfound sense of hope. I’m more confident now than ever that in 30 to 40 years, if my children begin manifesting symptoms of the condition their father had, treatments will be available to them. I’d go as far as saying that a cure could be on the horizon, particularly given the promise of gene editing. The potential for progress in rare disease research is immense, which fills me with optimism for the future.
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.
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