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View Full Version : Terrified i have a genetic disease.. literally at my wits end...(slight NSFW/TMI)



Shadowhawk
28-02-19, 13:51
Like so many here, my anxiety is quite insidious.. it likes to hide and spring up at the most random of times, triggered by things we don't expect, or even things that haven't scared us before. Sadly last night was one of those times, and i am doing quite poorly at getting my head squared away..

So, I have a big interview today (not a new job, but for an upgrade at my current position), so i was busy getting ready last night, including the usual showering and shaving. In the process of washing, i noted some blood blisters on my... ahem.. male area. At first, i wasn't really concerned about it, but i did note them. After a bit, i was curious about treatment and removal (i have actually noted one or two of these there (and only there, as it is important), which inadvertently got me into my current mess.

The long and short - i found that the blisters (angiokeratoma) are typically innocent, BUT, can be a sign of an uncommon/rare genetic disease - Fabry disease. Of course, finding a linked disease led me down the rabbit hole; i have learned there is early and late onset, and that it is passed down genetically (i have a daughter....). Even worse, while there is some level of treatment, its not great, and people don't have amazing prognosis typically.

Truthfully, i would have never had a reason to even think of this disease were it not for the spots. But now that i know, i cannot help but look at other issues my body has and wonder if they are connected. Recently, i have been having some GI issues where i have to go after a meal (this is cited as a symptom). This has only been happening a few weeks, but i have been dealing with abdominal pains and issues for longer (also cited).

More critically, the disease can damage the heart, in the way mine is (minor LVH). Up until now, i have thought it was due to my apnea (treated) and associated blood pressure, but i further worry it might be this. The disease can also damage the kidney (renal failure is common), but so far my blood work with regards to them have been great.

When i google and search, i see people my age (35) and younger reporting these spots, but of course google also likes leading me to info saying that this is only an "old person" issue, and that these should be investigated in young people (but nothing saying how young is young).

Finally, my heart is breaking in advance for my daughter, thinking that she already has a crappy dad (i dont hold myself in high esteem after the wife had an affair), and now has to deal with being genetically broken too. What kind of life will i have given my poor little girl? She already deserved better than me, and now i am afraid i have really doomed her. She is so sweet, and such a good, fun kid, i can't imagine anything happening to her.

Sorry for the wall of text....

I have a regular appointment with my cardiologist in two weeks, and i will ask him about it. Sadly, i fear he will blow me off since he is well versed in my anxiety, and i won't get help that could prolong my life. (Speaking of help, i have an appointment next week with a psych to get on a useful dose of Zoloft.. 25mg just isn't cutting it). I am scared, and feeling alone again, and already feeling regret knowing i won't be there for my little girl. I am terrified of death, and just when i think i am getting things in order (i lost 88lb and am working out), something new comes along to make me think its all for naught.

nomorepanic
28-02-19, 14:27
Ok so what would you do if you didn't have access to Google and the internet of any kind?

Fishmanpa
28-02-19, 14:45
Sadly, i fear he will blow me off since he is well versed in my anxiety...

What's sad about your doctor calling your anxiety out?

Positive thoughts

Shadowhawk
28-02-19, 14:45
Now or ever? I mean, if internet went away now, i would try to get on with life, but i would still be a mess, just with no way to find out.

The problem is, i can't put this genie back in the bottle. The (giant) seed of worry is there, and i have no idea how to deal with it. I feel depressed for a whole variety of reasons, and it is so hard to focus on my work right now.So much of me wants to give up and throw in the towel for good... but i don't want that for me or my daughter. I just don't know how to get over this. I don't know how not to be afraid of death (and how to not have regret for possibly passing on bad genes to my daughter).


What's sad about your doctor calling your anxiety out?

Positive thoughts
Nothing in particular, but if it leaves an actual issue untreated.. well, lots of things. I can deal with calling out the anxiety, but i don't want genuine things brushed aside because of it.

KK77
28-02-19, 14:47
You are catastrophising and painting a bleak future in which you have little or no control. But all this is in your mind. None of it is fact, and as Nic points out, had it not been for the internet and Dr G, you'd give the spots no further thought and move on with life.

Perhaps this is a temporary "blip" but you and your daughter deserve better, SH.

Shadowhawk
28-02-19, 15:12
I know its bleak.. i can't help but feel that. I truly hope a useful dose of SSRI might help, because frankly... aside from good moments with my daughter (which i sadly have tainted even those by anxiety), i haven't been truly happy in years. I cannot express how much i wish i could just LIVE, and be happy, and enjoy the moments; because right now, i cannot. I am frozen in fear, be it this disease worry or another.

Like i said.. i even know i have seen this before and written it off (i don't remember if i had a doc look at them before or not). But now, after reading what i have (where its an "old person" issue, or even one report saying that EVERYONE who has these spots should be checked for the disease, age regardless), it is SO hard not to worry, and not to assume the worst. Its made worse by how bleak the articles describe the disease, how people with it are guaranteed a miserable death... Its depressing..

Fishmanpa
28-02-19, 15:26
Here's the thing and you know it. You don't have this illness. (period) :lac: There are no 'what ifs' or 'yeah buts'. It's an incredibly rare 'genetic' disorder that would have been passed down in your family and does anyone in your family have it?( and yes, with something so rare, you would have known).

You played with a gun (Google) and shot yourself in the foot. The only one that can stop the bleeding is you:shrug:

Positive thoughts

KK77
28-02-19, 15:32
I know its bleak.. i can't help but feel that. I truly hope a useful dose of SSRI might help, because frankly... aside from good moments with my daughter (which i sadly have tainted even those by anxiety), i haven't been truly happy in years. I cannot express how much i wish i could just LIVE, and be happy, and enjoy the moments; because right now, i cannot. I am frozen in fear, be it this disease worry or another.

Like i said.. i even know i have seen this before and written it off (i don't remember if i had a doc look at them before or not). But now, after reading what i have (where its an "old person" issue, or even one report saying that EVERYONE who has these spots should be checked for the disease, age regardless), it is SO hard not to worry, and not to assume the worst. Its made worse by how bleak the articles describe the disease, how people with it are guaranteed a miserable death... Its depressing..

Of course this is very hard but you have mentioned a few positives here, like meds improving mood and anxiety levels.

Also, at age 35 you are FAR from "old". Life is a game of probability when it comes to genetic conditions and you have to bear in mind what "rare" really means. You can show your doc the spots but ACCEPT their judgement when they show absolutely NO concern. Chances are that they will disappear anyway.

Unfortunately, your anxiety will take a lot of hard work to shift but it CAN be done with the help of meds!

Shadowhawk
28-02-19, 15:39
Here's the thing and you know it. You don't have this illness. (period) :lac: There are no 'what ifs' or 'yeah buts'. It's an incredibly rare 'genetic' disorder that would have been passed down in your family and does anyone in your family have it?( and yes, with something so rare, you would have known).

You played with a gun (Google) and shot yourself in the foot. The only one that can stop the bleeding is you:shrug:

Positive thoughts

You are right, it is familial, and no one that I know of in the family has it (I have an aunt with lupis, but yeah...). But since it can be recessive, it leaves room for doubt in my mind, which is what my anxiety holds on to... If there is any chance it's true..... It's true.


Of course this is very hard but you have mentioned a few positives here, like meds improving mood and anxiety levels.

Also, at age 35 you are FAR from "old". Life is a game of probability when it comes to genetic conditions and you have to bear in mind what "rare" really means. You can show your doc the spots but ACCEPT their judgement when they show absolutely NO concern. Chances are that they will disappear anyway. , Unfortunately, your anxiety will take a lot of hard work to shift but it CAN be done with the help of meds!

See, the old thing is the problem- I'm not old. These spots generally are said to happen after 40, so it is troubling to have them now. The one dermatologist page I found says that any "young" person should be screened.. but is 35 young? Dunno.

I want to be happy.. I really do. I want to not worry. I have made positive change in my life, but I am still failing so much with the anxiety. And it feels like all of this health worry guarantees that may changes will be wasted, and I will die young anyway...

Elen
28-02-19, 15:44
Shadow if you did have a genetic disease, by defination you should already know about it due to other family members being affected, no?

Is this perhaps more to do with you previous thread regarding your ex?

Shadowhawk
28-02-19, 16:53
Shadow if you did have a genetic disease, by defination you should already know about it due to other family members being affected, no?

Is this perhaps more to do with you previous thread regarding your ex?
I agree its generally logical, yes. But, i didn't know my dad had thyroid issues until a solid 10 years after i was diagnosed.. (doh) That said, this is different, so i would imagine that somebody would have said something. And i will conceed that of my relatives who have died, none seem to match anything i am reading about (nor are any of the immediate alive relatives dealing with anything i know of).

I don't know if it is about my ex as much as just life in general. She, she damaged me pretty good, and i am still trying (and failing) to get back on my feet. But i have had health anxiety about things for as long as i can remember.. if anything, the divorce just made it worse and brought up new worries (now being the sole provider for my amazing daughter).

Shadowhawk
28-02-19, 19:50
BTW, the other thing that gets me is that some sites noted that the diagnosis is often missed, sometimes for years, implying that family members aren't always a sure sign of disease. It's again that chance, the shot in the dark, that worries me...

Fishmanpa
28-02-19, 19:59
BTW, the other thing that gets me is that some sites noted that the diagnosis is often missed, sometimes for years, implying that family members aren't always a sure sign of disease. It's again that chance, the shot in the dark, that worries me...

Your dragon sounds desperate to stay alive :(

Positive thoughts

Shadowhawk
28-02-19, 20:32
Your dragon sounds desperate to stay alive :(

Positive thoughts

It is, and in the process, is killing me something fierce. Escaping it seems like the most unreachable of goals, but I keep dreaming. Assuming I don't die of something else first...

KK77
28-02-19, 20:37
It is, and in the process, is killing me something fierce. Escaping it seems like the most unreachable of goals, but I keep dreaming. Assuming I don't die of something else first...

Don't "dream" - keep up the fight. Concentrate on finding a med that helps anxiety and look into mindfulness.

Then the Dragon will starve :shades:

Shadowhawk
28-02-19, 21:51
Don't "dream" - keep up the fight. Concentrate on finding a med that helps anxiety and look into mindfulness.

Then the Dragon will starve :shades:

I'm really trying, but obviously not doing well. Even just today I swing between thinking I am ok, to remembering everything I read about how I might not be. Then I get even more depressed thinking I set my daughter up for a diseased life too... Even the thought of not being there for her crushes me.

I just.. I don't know how to stop thinking the worst.. being catastrophic. It is debilitating, but I don't know how to handle it