Vitale Family Tree
We thank the Vitale 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.
Joan Crisafulli
Born 29/03/47.
I had suffered unexplained pins and needles and pain in my hands and feet for a long time before I received a diagnosis of ATTRv.
It was only after my sister Joyce was diagnosed with ATTRv that I was referred for genetic testing at the king Edward Hospital, Perth and was also found to have ATTRv on the 21/01/2021.
I have gradually deteriorated over the last few years with my main symptoms being very bad shooting pains in legs at night preventing me from sleeping. And postural hypertension resulting in a postural drop which makes it difficult on occasions to stand up and walk safely without help.
In March of this year I was admitted to Chales Gardiner Hospital, Perth with kidney failure.
My hypertension has remained a major issue and while in the South Perth Private Hospital I fell and knocked the optic nerve which caused continuous migraine. My neurologist prescribed an injection which helped considerably.
I take pregabalin for my neuropathy and midodrine for my low blood pressure and also the steroid fludrocortisone oxycodone to help with the pain .
A neurologist at the Perron Institute, Perth. Looks after my ATTR and I was fortunate to be prescribed a drug called Patisiran some months ago, given every week by infusion. This is now being switched to Vutrisiran which is given every three months by injection .
Overall, I think my symptoms have improved since I started on the Patisiran.
My appetite is improving although my taste buds are affected and I cannot have sugar.
I had been living on my own for many years but latterly I was finding this very difficult and Insafe as I was in danger of falling. My daughters have been wonderful but a few months ago I had to make the decision to leave my home and move into aged care. This was a very stressful time as it was something I had never wanted to do.
It was sometime before we were able to find a suitable place and while waiting, I moved several times into temporary aged care accommodation. I could do little to help with clearing up and selling my home and felt very helpless, sad and out of control.
But I am pleased to say that I now living permanently in a very pleasant place with excellent care and I am beginning to join in some of the activities and I am stating to enjoy life again.
Margaret Anne Van Kleef
Born 13/11/45.
Before my ATTRv diagnosis, my symptoms of restless legs, irritable feet, leg cramps, and years of carpal tunnel syndrome were attributed to arthritis and spondylosis.”
I also suffered carpel tunnel syndrome for years and was affected by a dry mouth.
In 2020 I suffered a right MCA M2 aneurysm which was stented and this is now followed up by a cardiologist at the SCGH.
I also underwent nerve conduction tests under a rheumatologist. Without any answers .
It was only when my sister Joyce was diagnosed with ATTRv that I underwent a predictive DNA and on the 21/04/2021 learnt I also had ATTRv, variant c.250T>Cp(Phe84Leu). This variant was thought to have originated in Sicily and is similar to the Irish variant Val30Met. I was 75 years old.
I have also had carpel tunnel surgery on my right and left hand. Amyloid was confirmed in both.
I am presently being looked after by a neurologist at the Perron Institute Perth and a cardiologist at the Midland Specialist Centre. Testing has shown no amyloidosis in my heart.
Rosina Grazia Crisafulli
Daughter of Basilio Vitale
Was thought to have inherited the genetic condition from her father Basilio Vitale. Again, there is no conclusive evidence to support this other than the fact that 3 of her daughters and one son have the Genetic condition confirmed. Rosina later in life was confined to a wheelchair and suffer from pain and loss of weight.
Basilio Vitale
Father of Rosina Grazia Crisafulli.
Basilo had 4 children and was thought to be the carrier of the Genetic condition. Two of his children are suspected to have the inherited the condition. Unfortunately, there is no real evidence to support this.
Rosina Grazia Crisafulli is the only sibling of Basilio Vitale that may have had the genetic condition and passed it on to 4 of her 6 children.
Basilio had type 2 diabetes and appears to have displayed symptoms of neuropathy in his later years. He was an avid player of his Ukulele but because of his hands was not able to play in later years.
Rinaldo Basilio Vitale
Son of Basilio Vitale.
Was also thought to have inherited the genetic condition from his father Basilio Vitale.
He displayed similar symptoms to his father but again unconfirmed. His one daughter was confirmed by genetic blood test not to have the genetic condition.
Gerrard Crisafulli
Age 69 (in 2025).
Before I was diagnosed with ATTRv I was experiencing problems with my hands and feet for many years which turned out to ne neuropathy. Eight years ago, I underwent carpel tunnel, but it did not cure y pain.
Over those years I saw many doctors and it was only when my sister Joyce underwent a DNA and was found to have hereditary ATTRv five years ago that I also underwent a DNA test which showed I had ATTRv and explained some of my symptoms.
I have not been on any trials and am slowly deteriorating with the neuropathy affecting my hands and feet slowly getting worse. I used to be able to walk a long way but am unable to do so now because of constant pain.
I also have problems with my gut. I experience constipation and then sudden diarrhoea. I try to deal with this by taking a lot of medication but it difficult when I am also having to take many medications for nerve pain, including opioids. It is extremely hard to break the pain cycle.
I become exhausted very easily on walking or any effort but fortunately I can still drive.
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