In 2013 I started to develop numbness and pain in my hands and in my legs from the knees down. At the time I put this down to overusing my hands whilst making bouquets etc for our wedding business as well as tending to the needs of our large garden.
Along with the pain and numbness I started to lose my sense of smell and developed a metallic taste for most foods when eating. Swallowing was also becoming a problem as well as loss of appetite and weight loss.
Pain in my arms, hands and legs prevented me from having a decent sleep at night. Consequently, by day I was fatigued and generally lacked energy.
By early 2017 I had to stop working and started to rely more and more on my husband for all things for general living.
During this time, I saw many different GPs who performed and arranged for many tests and treatments for the pain and numbness.
In 2017 I was referred to a Neurologist. After numerous tests the condition was diagnosed as being a form of Neuropathy and was referred to an Orthopaedic Surgeon for possible Carpel Tunnel Surgery.
The surgeon gave me a Steroid injection on one arm late in August 2017 to see if it would reduce the level of pain. The pain was not reduced and surgery was recommended one arm at the time even though I felt I did not have Carpel Tunnel Syndrome.
I then asked for a second opinion from another Orthopaedic Surgeon Specialist. He recommended immediate Carpel Tunnel Surgery on both hands. Surgery was performed on both hands in late in Jan 2018 to no avail as there was no pain reduction as promised.
The pain in my hands and arms continued and gradually started to extend up to my elbows.
In June 2018 the Neurologist carried out a second neuromuscular Electric Conduction test as well as arranging for an MRI of the spinal muscular skeletal system. Results from these tests indicated I had Small Fibre Neuropathy for which there was no cure at this time. The Neurologist indicated the only option was to manage the pain.
At the time I was also suffering from ongoing excessive coughing and throat irritation in conjunction with the difficulty in swallowing. The Neurologist referred me to an ENT specialist for a Pulmonary Function test. There were no findings of any benefit to my problems. Meanwhile digestive problems started to become more evident causing stomach bloating, loss of appetite and weight loss.
Early in 2019 I sought a referral to another Neurologist Specialist for a second opinion. He carried out further conductivity tests and after a time concluded that I had a rare form of Fibre Neuropathy and arranged for me to have monthly infusions of IVIG. This was terminated 6 months later as there were no signs of improvement and it was causing fluctuations in blood pressure. In late 2019, the Neurologist arranged for a Sural Nerve Biopsy. The Results indicated advanced chronic axonal injury but was unable find any indication of amyloids as the nerve was too damaged. As a last resort he arranged for a Genetic blood test.
In March 2020 gene testing results became available which showed I had hTTRv Phe84Leu Variant, familia Amyloid Polyneuropathy FAP.
The Neurologist said he was unable treat me for this rare disease which he indicated could be fatal and I would become paralysed in time. He referred me to a research Neurologist at the Perron Research Institute to review my situation. In July 2020 they advised that there was no treatment available to treat this rare disease. However I was offered the opportunity to be part of a 2-year worldwide Phase 3 trial by IONIS which was designed to slow the progression of the amyloids malforming.
I subsequently met all of the criteria to be part of the trial. However, COVID delayed the start in Australia. I finally started on the trial in July 2021. I am currently being monitored by a team of specialists consisting of a Neurologist, Haematologist and a Cardiologist.
After completing the 2-year trial I was offered a 3.5 year extension by IONIS which is due to be completed early next year.
Because of the delay in the commencement of the trial in Australia, my symptoms had become much worse and I became reliant on support from my husband to assist with daily activities. I am now unable to look after myself requiring ongoing assistance 24/7, to manage my personal care, carryout usual household duties like cooking, cleaning, washing, gardening, driving or shopping.
Although further deterioration seems to have slowed due to the trial medication, I am not able to use my hands or control my fingers or legs to any degree. Some days I have enough energy to I walk short distances with support from my walker.
I believe thanks to the use of Domperidone tablets before meals over the last few years has greatly assisted in improving my digestive system. My loss of smell, taste and my appetite seems to have recovered somewhat and hence I have regained my loss of weight. Stomach bloating also seems to have become less frequent.
Socialising is becoming harder and harder and now almost a chore, it is very tiring and stressful even when kept to a minimum. Eating out with family and friends is also very uncomfortable as managing tableware and crockery is very difficult and messy. I have delayed feeling in my hands and legs to distinguish hot from cold and often have burns on my fingers without knowing.
Playing the piano, writing or using the computer is out of the question. I am able to use the mobile phone to some degree with the use of a pointing device to push the keys and a limited use of voice commands due to my voice deterioration. I am able to read but have difficulty turning the pages and holding the book.
Deterioration in my condition seems to have slowed though the pain and numbness in my limbs seem to have got somewhat worse.
Outside of the trial medication I am mainly being treated for pain and numbness management by my GP. I have pain flare ups on and off usually in the afternoons into the evenings requiring more medication at times depending on the level of pain.
Over the last few years, I seem to lack energy and need to sleep more than 12 hours each day. Some days my only activity is to watch a bit of TV to take my mind off the pain and numbness.
At present I feel very lucky that the trial has slowed or even halted the progression of the disease and am thankful that it has not affected more of my other organs. My whole existence revolves around my carer husband who tends to my every need.
I also value very much the ongoing support I received from various people in the AAN over the years.
Being a hereditary disease the rest of my family was genetically tested and have identified 3 of my 5 siblings and 1 of my 2 children and a 1 niece as carrying the gene. The 3 effected siblings are in various stages of the disease. My son and the niece are asymptomatic at the moment.
I am hoping that my involvement in the trial will be a step closer to finding a cure from this terrible disease.
