Keep Pushing and Persevering on the Rare Disease Journey

My laptop reads 3:37 a.m. I made the mistake of checking my work inbox when I should be asleep. There are times I become overzealous in my correspondence. I want to provide a solution for the people who contact me right then and there.

Leading a patient association has its rewards and challenges. I consider it a privilege to play a part in changing the landscape of disease awareness and treatment in New Zealand. I have met many amazing individuals — not only sufferers and carers but also outstanding people from the medical and pharmacology fields.

Unfortunately, I have also encountered a handful of individuals who make this journey a bit more interesting, to say the least. These people seem to erect brick walls without any regard for rare disease sufferers.

My husband requires a team of medical specialists because hereditary amyloidosis is multisystemic. Unfortunately, we face a shortage of amyloidosis experts in New Zealand. This means he sometimes waits a long time before being seen.

Misdiagnosis is common, and I am often contacted by desperate sufferers who believe they have a disease, but doctors refuse to listen. I am not discounting the fact that doctors are seriously stretched. I only want them to understand that for people with rare disease, making life difficult is not on the to-do list.

It helps when doctors are not quick to dismiss what the patient is going through. Implicit bias, or unconscious attitudes and stereotypes, does occur among medical professionals, which can lead to inappropriate treatment decisions.

My husband and I sat in a clinic not too long ago and were told there was nothing else that could be done. That we should enjoy our last days with each other and be thankful he lasted this long.

My husband left the clinic disheartened and distraught, though he tried to hide it. As we walked out, I told him everything would be OK. I waited until we got home to bawl my eyes out in the bathroom and silently scream at God for putting us through the wringer yet again.

However, through my frustration and turmoil, I thought, this cannot be the end of the road. I sought secondary medical advice from an amyloidosis specialist in Melbourne, Australia. This doctor was so kind and encouraging, and told us to not give up and that more could be done. He listened and gave us both renewed strength and purpose to keep fighting. I realized that obstacles would always be there, but how we react determines the size of the barrier.

If you are a patient or carer, I hope you find what you are looking for. I am rooting for you to be strong instead of needing to act strong. I hope you keep pushing to get the proper help. If one doctor gives up on you, find another. There is a plan and purpose for your trials, so keep walking the path set before you, because help may be just around the corner. Stay the course.

“Nothing can dim the light which shines from within.” – Maya Angelou

***

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.