My brother and I both inherited a gene mutation for Adrenoleukodystrophy (ALD) from our mother. My brother has all the classic symptoms, including Adrenal Insufficiency (AI) and the slowly progressive Adrenomyeloneuropathy (AMN). He is 69 and has mostly lost his ability to walk, while I am 67 and have no symptoms whatsoever. Neither of us obviously got the fatal Cerebral ALD phenotype as children, which is extremely lucky.
Doctors have no explanation for how I remain asymptomatic. One doctor said I should really consider myself presymptomatic and not asymptomatic since 100% of males with the ABCD1 gene variant get at least one symptom, assuming they live long enough.
Does anybody else out there have a definitively diagnosed disease, any disease, but with zero symptoms? I’m curious how rare a person I really am.
Several years ago an ophthalmologist told me I have “Fuch’s Dystrophy”, a disease in which the cells lining the inside of my corneas eventually start falling off like loose tiles on a kitchen backsplash, causing vision problems and eye pain, possibly leading to the need for a corneal transplant.
So far my eyes are fine, but the eye doc said the nature of the disease is such that it doesn’t get bad until very old age, and I may eventually die before I need a cornea transplant.
My mom has this. Late 70s and she’s had cataract surgery. but otherwise fine.
She also has “pre” multiple myeloma. They first thought that she had rheumatoid arthritis, but after further testing they figured out the real situation. She’s being monitored, but her numbers don’t indicate that there’s any progression. Her father died from multiple myeloma.
How do you even get tested let alone diagnosed for a disease, if there aren’t symptoms to begin with? What are the doctors looking for?
Where I come from, the doctors don’t even begin to look for diseases (other than a few of the most routine things like high cholesterol) unless someone comes in complaining of some obvious symptoms.
In my case, my brother was diagnosed with ALD at 31. My mother was found to also have the ALD variant, and her kids had a 50/50 chance of inheriting it from her. My mother only had my brother and me, and since I didn’t have symptoms around the age I should have, they assumed I didn’t get the variant. I think they were swayed by the fact that asymptomatic males were extremely rare, I had a 50/50 chance of getting it and not getting it, and because my brother got it made statistical sense that I didn’t get it.
Why was I finally tested at age 65? My brother’s geneticist wanted to close the book on our family and confirm that I didn’t have the variant. She was shocked to find out that I had the variant. It turned out I also had elevated Very Long Chain Fatty Acids (VLCFAs), a biochemical marker for ALD in the blood. I’ve spoken to 3 different ADL experts and none of them can explain how I can have the variant, have elevated VLCFAs, and have none of the symptoms. I’m a walking medical mystery.
Turns out there’s a bad gene on dad’s side, one that can lead to sudden heart arrhythmia. It’s dominant, meaning one copy of the gene is all it takes to have the condition. The initial symptoms, by the way, is often “sudden death at a young age”. My two surviving sisters have it, which means dad had the gene but dad lived to 87 and died of cancer rather than sudden heart stoppage - unlike a half dozen other members of the family who carried the gene. For some reason dad didn’t have the gene express itself. Once my sister with surviving children knew she had it she had her kids tested.
My surviving niece and nephew were both found to have the gene. That foreknowledge almost certainly saved my nephew’s life a couple years ago, as his heart attempted to stop - yay, implantable cardiodefibrilators, which device was only given to a man in in 30’s with no signs of heart disease other than having come up positive on a test for a bad gene.
It’s still a mystery why dad never seemed to be affected, although this is a gene where it’s known some people aren’t as strongly affected as others (“incomplete penetrance” I think is the technical term).
I seem to have escaped the bad heart genes from both sides of the family. Lucky me, I guess.
I have wondered whether or not many of those who are asymptomatic actually did have symptoms but just didn’t recognize them as being symptoms.
I had covid in May, 2020 – the thirteenth case in the county. The only reason I got tested was because my sense of smell went haywire for a few hours. Instead of losing my sense of smell, I was smelling all kinds of smells, many of them smells that I had never smelled before.
So I got tested and was found to have had it. Most of the time I had no symptoms at all. Other than that, it felt like allergies, and not a bad case of allergies at that. I had no fever and no pains or aches in my lungs.
My eyes were also dry a couple of days before my sense of smell went crazy. I would not have recognized that as a symptom of covid, though.
Then in October, 2020, I had every symptom again except for the sense of smell. It wasn’t until I was almost over it that I started to realize that it might be covid.
I did go to the doctor that time for the allergies about a week after the allergies began and argued with the PA.
So you can have such mild symptoms that you might not realize that you have covid and the covid would not be asymptomatic.
My second round with covid was near symptomless. Mild congestion. Mild fatigue but hey, I work retail in the holidays and it was early January, and cold, so fatigue was hardly a surprise. Thought it might be my allergies. Then two people called me within a half an hour to say they tested positive and since I had spent time with them recently I should get tested. Yep, positive.