I am Vince O’Donnell. I have a slow but fatal genetic condition known as hereditary ATTR (ATTRv) Thr60Ala Amyloidosis with cardiomyopathy, once known as Familial Amyloidosis Cardiomyopathy (FAC) or familial amyloid poly neuropathy (FAP)
Hereditary ATTR is a condition that can be passed down to male or female children from the mother or father with a 50% chance of any child receiving the mutated/abnormal gene. So even if a parent is known to have the condition, it may not be passed down and if the gene is passed down symptoms may not develop. See Hereditary Amyloidosis.
TTR transthyretin is a normal blood protein mostly made in the liver and found in every body. In my disease this transthyretin causes the rogue protein amyloid.
The TTR diseases are known as systemic, meaning the amyloid protein can deposit in any of the organs or tissues of the body except the brain. In my type of ATTR the nervous system and the heart are the most commonly involved. This can result in progressive symptoms of shortness of breath, swelling of the ankles, weight loss, nausea, fatigue, tingling and numbness of the hands and feet, gut and urinary incontinence.
I’m 63 years of age, diagnosed some four years ago in September 2014. Typically, my type of amyloidosis (there are about 29 varieties known) starts around the age of 55-60. Carpel tunnel, and breathlessness are often the first indicators, but the symptoms often mimic those of other diseases and make it difficult to formally diagnose. Historically many people were never correctly diagnosed, and this still remains a significant problem.
Interestingly back in 2010 my partner and I had undertaken a process of sending our saliva to a company in the USA known as 23andme, to try and discover a little more about our heritage. At that time, they produced our heritage history but also were permitted to provide information outlining predispositions to certain medical conditions. In 2014 one of my reports indicated I carried the ATTRv (FAP) gene. However, their tests could not tell me whether I would develop the disease. I didn’t have any known symptoms at that time.
The information gained from the company 23andme about my genealogy and its report, gave my heart specialist some leading information. And at the same time as indicated, my brother was diagnosed. So out of myself and my two brothers two of us have been diagnosed with the disease. My brother was diagnosed one week before me with a number of symptoms.
So my partner Terri and I had some hard decisions to make. I was being assessed for liver and heart transplants but for various reasons these did not proceed, (the liver produces the amyloid) and the heart is the ultimate organ which causes cardiac failure as the amyloid fibrils lodge in the heart wall. I had a prognosis of approximately 7 years and I could see my brothers condition deteriorating. Terri and I went through an emotional roller coaster but ultimately decided to retire, sell our unit, help family a little and buy a caravan and hit the road. So for the past four years we’ve been travelling, staying with family, house sitting and enjoying camping trips with friends. Currently we are with family in Yeppoon and will be here for some time.
Of course it’s not all smooth sailing. I attend the PAH Amyloidosis Centre where I see my haematologist, and I attend a private heart specialist and GP appointments. I see other specialists as required. I’m on medication to slow the condition but to date there is no cure. There are some new medications being developed and slowly coming on board overseas but the process is elongated and expensive and not yet available in Australia. My symptoms to date have been; neuropathy in the toes, feet and lower legs with discomfort also in the upper legs, two carpel tunnel operations, strength deterioration in the hands, pain in the upper arms, burning in the toes, tip of tongue and penis, lethargy and tiredness, some loss of appetite and sexual stimulation, occasional nausea after a long toilet visit, as well as a few other issues including hearing loss and osteo-arthritis in the shoulder which may be attributed to my amyloidosis.
Personally though I believe I’ve been fortunate. Like any medical condition early diagnosis is crucial. Unfortunately, my brother did not have such early intervention, and struggled for years trying to get a diagnosis. He has passed, but his resilience, fighting attitude and keenness to assist others has indeed been a guiding light for me.
Finally, I want to say how important it is, as a person living with hereditary ATTR, to keep well informed, linked with good medical and social care, maintain an open kind, stay connected to key organizations like the Leukaemia Foundation and keep your supports close. My beautiful partner of 42 years has been my rock and while she too has her own medical issues to manage, together we have traversed Australia & other parts of the world, and live in anticipation of our futures together.
Thankfully our three children do not carry the gene.
The Amyloidosis Alliance
Late last year I was selected as the Australian representative to attend a gathering in Paris for a group known as Amyloidosis Alliance -The voice of Patients. This is a worldwide group formally recognized as a registered Association in France. The goals and aims are to raise awareness, to raise the profile of amyloidosis among patients, families and the medical profession and to advocate for treatment availability around the world. My thanks go to Ellen Reid in Victoria and Pfizer for their support in helping me to attend this meeting on behalf of the many people with ATTRv and ATTRwt in Australia.
I have now developed an action plan. Essentially the plan has three key aims.
- To participate in the various activities of the Amyloidosis Alliance -The Voice of Patients.
- To develop an Australian network that can facilitate the exchange of experiences between ATTR patients and their families.
- The development of a strategy to encourage more specialists to consider Amyloid Transthyretin (ATTR) as a possible diagnosis.
- To work towards improving access to resources, supports and appropriate medical attention for people diagnosed with ATTR?
My wife Terri and I will be attending the the 2nd meeting for ATTR Amyloidosis for doctors and patients in Berlin in September and the 2019 gathering of the World Amyloidosis Alliance
If you are living with hereditary ATTR amyloidosis (ATTRv) or wild type ATTR (ATTRwt) please give consideration to contacting me so that we can discuss the benefits of the Amyloid Alliance and what we can achieve together. Send me an email with your contact details and I’ll gladly ring you back.
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