Stephens Family Tree
We thank the Stephens family for allowing the AAN to publish their family tree with some of their individual stories. They hope by doing this they will help to raise awareness about hereditary amyloidosis, especially their type ATTRv, and the emotional and physical issues they face every day in living with this disease.
Click on the STORY buttons for more details about those individuals.
Terry Stephens
How many doctors did patient see before diagnosis?
Urologist, heart specialist, vascular specialist, hand specialist, diabetes specialist, gastroenterologist, oncologist and multiple GP visits.
Did they receive and were treated for an incorrect diagnosis?
No. It took several years of various tests to get a diagnosis of Amyloidosis but no diagnoses were given prior to Amyloidosis – it was all in the “unknown basket” .
Why you eventually undergo DNA testing?
Once Peter my brother was diagnosed with ATTRv a underwent a DNA test .
Date and result from the DNA testing.
Amyloidosis diagnosed April 2022 – hATTR in July 2022
Who then took over treatment?
Amyloid Clinic St Vincent’s Hospital Sydney. Biopsies,
What tests were done?
various cardio tests, heart monitors, blood tests.
Present doctors.
Dr Antonia Carroll and Dr Nikki Bart at St Vincent’s.
Present treatment.
Started Diflunisal 2022, stopped 2023 and started Vyndamax (tafamidis) on compassionate grounds prior to Govt approval December 2023 to present day.
Current medications:
Vyndamax 61
Pramin 10mg
Motilium 10mg
Largactil 25mg
Florinef 0.1mg
Sandomigran 0.5mg
Betmiga 50mg
Centrum Adv
Mestinon 50mg
Zabep EC 20mg
Vitamin B12
Vitamin A
Lyzalon 25mg
Green tea
How has this diagnosis changed the patient’s and their family’s lives?
Massively, it’s bloody awful. Total independence to totally dependent on others for all daily tasks.
I have gone from working full time as an ED nurse in a major hospital, travelling the world and enjoying going to concerts, operas and dining out to being completely bedridden.
I have no immediate family but am supported primarily by my sister who manages all my activities and outside appointments. The Aged Care staff take care of my personal needs and assist me with any day to day needs. I now only go outside to attend the Amyloid Clinic and the dentist twice a year which my sister takes me to. My 2 male siblings also have Amyloidosis and are managing as best they can. The broader family is supportive of all 3 of us and at the same time concerned for the next generation that have tested positive. This disease is devastating but with new trials and medications evolving there is some hope for the future but not for me.
Michael Stephens
1. Medical problems before diagnosis?
a. 3 episodes of unknown illnesses (1995? 2000? 2021?) Symptoms as below
Tired, ached all over, body swelling, could not get out of bed.
After the 2000 episode was given Prednisone and then weeded down to 5mg and continued this until Prednisone was stopped in 2020 and slowly the symptoms began to affect me again. Specialists tried to discover the cause and give alternate medicine but to no effect and I was going downhill and getting weaker
2021 I went to the Emergency Department and was told to go back on Prednisone and started to improve immediately. I have not had a relapse. Eventually I was to say I had Polymyalgia Rheumatica.
b. 2000/2001? Carpel Tummel Syndrome operation on both hands.
c. 2014 Total Double Knee Replacement
2. Why did you eventually undergo DNA testing?
Because my older Brother Peter was diagnosed with ATTRv in 2022
3. Date and result from DNA testing mutation etc.?
Sample Taken: 9/9/22
Report: 19/12/22
Told 27/1/23 that I had tested positive and had ATTRv. Mutation
Result: TTR (NM_000371.3): c.[238A>G]; [238=]
p.[(Thr80Ala)];[Thr80=] -Pathogenic
4. Who then took over their treatment? What tests were then done?
Dr Antonia Carroll – Neurologist at Westmead Hospital Amyloidosis clinic.
She ordered:
i. TTF (Transthoracic Echocardiogram) for Cardiac Amyloidosis with global longitudinal strain assessment.
ii. Cardiac Amyloid Bone Scintigraphy (PYP)
5. Present Doctors?
a. Dr Matthew Silsby
b. Dr Antonia Carroll
6. Present treatment? On a trial?
a. Amvuttra Injection
b. Diflunisal
c. Vitamin A 5000
d. Green Tea
7. How has this diagnosis changed the patients and their family’s lives
At the beginning I was very concerned for my children. They have since been tested and two have tested positive and one negative. The Ggandchildren are too young to be tested, but hopefully ongoing improvements in treatments will help them if they have the gene .
I am at this stage taking medication, undergoing regular tests and getting on with life. I try to spend as much time with family as possible
I am slowing down probably due to both ageing and Amyloidosis.
Julie Stephens
I under went DNA testing October in 2022 and received a negative result in February 2023 which meant that I was not carrying the ATTRv gene and therefore my children will not have the gene
This has had a large impact on myself and my husband. Prior to and after Terry’s diagnosis I was /am his “physical” support. I take him to his medical appointments, manage his finances, have Power of Attorney and manage all communications with government departments, run errands, manage his mail and do his shopping. He will call me if he needs something to be brought to the Nursing Home. The Nursing Home regularly call me if Terry has an accident and for any administrative tasks. I visit him fortnightly and provide assistance as needed.
I was taking Terry out on his electric scooter but it he is now totally incapacitated, and he tires very easily so I cannot take him out anymore. .
Sometimes this can all be too much for me as I have my own health issues, but I know Terry relies on me as the best placed sibling to help him.
Susan Stephens
I can relate to this. I have three brothers test positive to Amyloidosis. I had the test and had my brother Peter as my support person to be with me when I got the result. I just felt that if I took my partner with me I’d be the one supporting him if I tested positive. So with my brother, and getting my result of negative, I was (for a split-second) happy that it turned to empathy for my brother. He was over the moon and very happy for me. I felt bad, for sure, for him. I didn’t feel guilty and I didn’t ever say ‘why not me?’ I felt my brother was extremely brave and supportive to me that day. I very often think of that moment, and I often tear up at that memory, and I feel a sadness for my brothers. But I also feel so proud of my brother Peter, and his support of my negative result, as he battles this cruel, horrific disease.
Bill Stephens
Bill’s Story is a little complicated. He was as far as I knew, born William Clarence Stephens on 5th July, 1931 at North Belmore, Sydney, NSW to parents Stanley Richard Stephens and Minnie Pearl Stephens (nee White).
But following his passing on 13th January, 2001, at a gathering at the family home, I was shown an adoption paper I had never seen or heard of.
This paper was the official adoption notice of a child known as William Clarence Nicholson / White to Stanley Richard Stephens dated 18/5/46. It stated that William Clarence Nicholson was to be known as William Clarence Stephens. He would have been 14 years 10 months and 13 days old.
The relevance here, is the search for the initial Hereditary ATTR carrier to our family, as we have nothing definite from my mother’s ancestry and very little at all from the Stephens’ side. And that apparently our genetic family name could be Nicholson.
So, the question is, are there any “Nicholson” Ancestors out there that have had any symptoms or treatment for Amyloidosis? The possible source would have to date back to the 1930’s of course.
Whilst this is a needle in a haystack situation, I feel compelled to ask the Amyloidosis community if there are any signs of Nicholson heritage out there that have had undiagnosed early deaths or serious illnesses that would once been until recently, of unknown causes.
Thanks very much if anyone reads this and/or it strikes a family memory or mystery.
(told by Peter Stephens)
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