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.
There are
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,
and tendons.
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.