Currently I have altered sensation in both feet, the left worse that the right but it has always been that way. My left ankle has been weak for years and I keep rolling my ankle. An ultra sound a few years ago showed thickening in the ligament and also a tear which the doctor said they could surgically repair. I told him ‘that when it snaps, they can repair it’.
I have tingling in my hands. Some days worse than others and I have on and off again carpel tunnel symptoms in my right wrist. I continue to have altered sensation in the left side of my face and a slight facial droop that nobody else seems to notice. I alternate between constipation and diarrhoea but looking back on that now I have done that all my life and was again miss diagnosed with IBS.
I also have loss of temperature control and 15 to 20 hot sweats a day, most of them overnight. When I walk I sweat profusely, even if the temp is below 5 deg. But I have always perspired a lot all my life. I also have episodes where I just can’t get warm despite being under a feather doona with the electric blanket on.
Along with the pins and needles, I get sharp stabbing pains that only last a second but keep coming and going for hours sometimes. I have nerve pain, particularly in my lower back and buttock area. It feels lick someone has injected battery acid.
But as much as it’s not the diagnosis I wanted to have, it is good to finally know that I am not going crazy and the symptoms I have been having for years do actually have a cause. I was starting to think that all the specialists I had seen were thinking that I had Munchausen’s Syndrome. Very depressing when no one can tell you what is wrong and not being able to get treatment.
The genetic testing showed that not only do I have a rare hereditary condition but there is only two other documented cases in the world of my mutation Asp58Val. In a creepy kind of way, it’s kind of cool to be a ‘super freak’. Dr. Gibbs has actually asked if he can write my case up and why not? I may as well go down in history!
I currently take Diflunisal, Doxycycline, Amitriptyline and Lyrica for the nerve pain and to help me sleep and Vit D and magnesium and Nexium to prevent gastric issues from the Diflusinal. The fluid is bad some days so I take Frusemide as needed and limit my fluid intake. I have to be careful not to get dehydrated as that lowers my already low blood pressure and causes my ‘woozy’ episodes to increase.
I was taking Green tea capsules but this increased the number and intensity of my hot flushes so my doctors have stopped that .
I have slowed down considerably. I can’t walk like I used to. In 2020 as we couldn’t do anything other than walk, I was walking 10-12km a day. I managed to clock up 50km shy of 5000km for the year. I wish I had tallied up the kms earlier and walked that last 50!!! But in spite of all the issues above, my quality of life is still pretty good.
I have 2 sister’s and a ½ brother who are all waiting to have or receive genetic testing results to see if they carry the gene. from their genetic testing to find out if they also carry the gene. Fingers crossed that they have dodged that bullet.
I think one of the most difficult thing about having this diagnosis, is knowing that I could have possibly passed it on to my kids. They are only 14 and 16 and we think they are too young to take on the burden of possibly knowing they carry a rare genetic condition that could possibly be fatal. All we have told them so far is that I have a ‘dicky’ heart and having treatment for it, not what is causing it. I will talk to them about it when they are older or if, unfortunately they start to develop symptoms.