Vince: His journey with hereditary ATTRv amyloidosis and helping others.

//Vince: His journey with hereditary ATTRv amyloidosis and helping others.

Vince: His journey with hereditary ATTRv amyloidosis and helping others.

2021-07-31T18:14:09+00:00June 22nd, 2020|Patient Experiences|

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.

Patient Information: Hereditary ATTR Thr60Ala Amyloidosis

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.

Read my brother Laurie’s Story

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.

Vince O'Donnell

Update September 2020

It was exciting to got a call from my haematologist at the PAH  to say my Patisiran (also known as ONPATTRO) infusions had arrived and I started treatment in May. I have the infusions every three weeks. Partisiran has been shown to have good results in controlling polyneuropathy in ATTRv, so this is a major step in my journey.

My haematologist at the Princess Alexandra Hospital amyloidosis centre had advocated on my behalf for me to receive Patisiran on compassionate grounds as I didn’t get on the Alnylam Patisiran drug trial. It must be Laurie’s energy that helped with this – thanks brother.

I have just completed my fifth infusion. There have been some bumps in the road, but I am extremely fortunate to be on this drug. We have had to relocate to Brisbane as at this time Patisiran cannot be given through Rockhampton hospital.  We count ourselves lucky as we can live in our van in Terri’s mum’s driveway, and we are able to do easy house sits for family/friends.  It would have been very tiring and expensive to travel to Brisbane every three weeks.

Dealing with the reactions hasn’t been too bad, only a few rashes on my face & back of my neck, and back pain – expertly dealt with by the doctors, nursing & pharmacy staff. I’m not sure if the hiccups were part of a reaction but I did have them, on and off, for 48 hours. Getting our living arrangements right, understanding pre-infusion along with the actual infusion with changing times of flow rate, ordering of supply, and liaising with Clinical Nurse Consultant (CNC) have been a learning curve that we are getting better at. Patient self advocacy is important and works well in partnership with medical staff.

My thanks go to my family, Alnylam, Princess Alexandra Hospital & staff.

My wife, Terri,  and I have told our story to many agencies involved in offering support to amyloidosis patients and families in Australia including of course the Australian Amyloidosis Network. We believe that learning about your disease and seeking support is vital.

Gerry from WA, myself and Terri moderate the Face Book site Amyloidosis Australia.

The Amyloidosis Alliance
A few years ago  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 recognised 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.

My wife Terri and I attended the 2nd meeting for ATTR Amyloidosis for doctors and patients and the gathering of the World Amyloidosis Alliance  in Berlin in September 2019.  We continue to work with the Alliance but have stepped back from representing ATTR patients on the Amyloidosis Alliance. We now work closely with both the Australian Amyloidosis Network AAN  and the Alliance AA .  .

If you are diagnosed with hereditary ATTR amyloidosis (ATTRv) or wild type ATTR (ATTRwt) I am always happy to talk with you.   Send me an email with your contact details and I’ll gladly get back to you.

For more information about this patient’s experience you can send them an e-mail using the form below.

Contact Vince