Rare Disease Day Feb 29th
Rare Disease Day takes place on the last day of February each year and the main objective of this important day is to raise awareness amongst the community and members of government about rare diseases and the impact on patients' lives. The increase of knowledge amongst the general public encourages researchers and decision makers to address the needs of those living with rare diseases.
My husband was diagnosed with a rare form of disease called 'hereditary or familial amyloidosis' back in 2013. This disease had claimed the lives of his father, brother, aunties, uncles, cousins and now has touched him.
Amyloidosis is a condition in which too much of a particular protein (amyloid) collects in the organs, so that they are not able to work normally. Amyloidosis can affect the heart, kidneys, liver, spleen, nervous system, stomach or intestines. The condition is rare but it can be fatal. Amyloidosis sometimes develops when a person has certain forms of cancer, such as multiple myeloma, Hodgkin's disease or familial Mediterranean fever (an intestinal disorder). It also sometimes occurs in people with kidney disease who have undergone dialysis for a long time. Our ex-prime minister David Lange died from this disease and the actor Micheal York also has it and is a spokesperson for their advocacy group in UK.
five major forms of amyloidosis:
• AL or Primary amyloidosis. Most common and occurs without another associated disease and most often affects the heart, lungs, skin, tongue, nerves and intestines.
• AA or Secondary amyloidosis. Associated with chronic diseases, such as tuberculosis, or rheumatoid arthritis. It most often affects the kidneys, spleen, liver and intestines. If the underlying disease is treated, this form of amyloidosis will go away.
• Hereditary or familial amyloidosis. Runs in families. This type often affects the nervous and digestive systems as well as the heart. *This is what Aubrey (my husband) has; polyneuropathy and cardiomyopathy.
• Age-related (senile) systemic amyloidosis or Wild Type. This is caused by deposits of normal TTR in the heart and other tissues. It happens most commonly in older men.
• Dialysis-related amyloidosis (DRA).
This is more common in older adults and
people who have been on dialysis for more than 5 years and
affects many different tissues, most commonly bones, joints,
On 9th Feb 2016, my husband underwent a liver transplant at Auckland hospital after almost two years of waiting and he became the first domino transplant recipient in NZ. Domino transplant is where instead of donor to recipient transplant, the donor liver went to my husband and his liver went to another recipient (in his late 60s suffering from liver cancer).
This is possible only because the recipient of my husband's liver agreed to the procedure. Additionally, my husband's healthy liver (he doesn't drink nor smoke) only produces the mutated gene in his own body. In another person, the adverse reaction does not happen and if it does, it would take a very long time for the disease to manifest.
Unfortunately, despite the hugely successful liver transplant, the amyloid protein deposits already present in his body are for some reason causing progressive misfolding of the other amyloid protein to occur and be deposited in his organs. He continues to become weaker and skinnier from muscle wastage as the day passes. With this bleak outlook, we decided to investigate treatment options and discovered that although there are medications available in countries like America, Canada, Europe, and Japan, there were none available in New Zealand. Imagine our surprise when we found out that there are about 50 people with this rare disorder here just in the North Island alone, suffering with no hope for living. Hence we started New Zealand Amyloidosis Patient Association (NZAPA) last year and now we are a registered charitable entity (www.amyloidosis.co.nz).
We attended the Amyloidosis Alliance Berlin conference in 2019 in order to champion for drug treatment for this rare disease in New Zealand. Our mission is to help make a positive and lasting impact in New Zealand to help amyloidosis patients. So far from our advocacy efforts, a new drug trial has started in Middlemore hospital to help patients (this is ongoing and recruiting) and a pharmaceutical company with a breakthrough drug treatment (already helping countless patients across America and Europe) heard our pleas and have agreed to bring their treatment drugs here to NZ! Our next step is to work with our local medical entities in order to get the drugs into the country for patients and hopefully be funded by Pharmac.
This Feb 28th, we collaborate with Rare Disorder NZ and will attend Parliament to present a ‘Fair to Rare’ campaign and plea the government to increase funding support for rare disease patients in Aotearoa. At present there are about 300,000 people with rare disorders in this country with little to no support. This number is more than all diabetes patients put together. There are a lot of hard work to be done and tough choices to be made but at the end of the day, when it becomes a question between life and death, the answer should always be a resounding hope fuelled one.