Overcoming adversity / dealing with limitations

[skullsplitter]

Both of sons have issues to deal with. My oldest was a slight case of cerebral palsy. It's given him tight hamstrings and heal chords so no matter how much he trains and stretches some stances are never quite "perfect". My youngest has ADHD and auditory processing disorder. He struggles with focus and quickly interpreting instructions. Some days its painful to watch him as I can see on his face his frustration with trying to keep up and keep on task in class.

My advice to both has been to worry about the things they have actual control over and give their personal best effort.

Our dojo has seen junior arthritis, hypoplastic left heart disorder, folks with cancer, amongst other things. Out instructor does a great job of treating each as individuals with their own limits and goals.

[JR 137]

Polycystic kidney disease runs in my family. My maternal grandmother had it, and 8 out of 9 of her children (including my mother) have it. 2 have passed away relatively young from complications due to it. I’m one of 4 children; 1 has it, 2 don’t have it but aren’t old enough yet to be 100% sure they won’t get it.* I don’t have it. A lot of my cousins on my mother’s side have it. I guess you can say I know too much about it without actually having it. I guess you could say I got lucky.

* I was told by a few specialists that if you don’t develop autosomal PKD (the genetic type) by age 28, you won’t develop the disease, as it hasn’t been seen to start after that age. Reading the PKD Foundation website, they say symptoms can start as late as 40. Kinda has me scratching my head here. Maybe they don’t see cysts start initially developing after 28, but there might not be symptoms until 40 at the latest? All I know is I was ultrasounded every year, with my last one being at 30. My doctor had to argue with my insurance company to cover it at 29 and 30; they reluctantly did due to my family history. I’ve never had any kidney problems though.

I’ve never heard of the joint laxity associated with the disease before. None of my family members with it have ever mentioned joint laxity. They’ve only relatively recently found the gene (I think around 10 years ago?), and there’s still a ton of stuff they don’t know and are finding out. It’s quite an odd disease.

Wow! Small world! Yeah, I'm 4th generation Autosomal Dominant PKD myself. The only living members of my family with it are my dad and my two sisters. Dad got a transplant back in 2007 though, and is doing awesomely! Neither of my sisters nor I have faced the worst of it yet. My kidneys are probably in the best shape of the bunch, not sure why, perhaps because I have always had abnormally low blood pressure (at the doc last week it was 103/62, which is really good for someone with PKD, since it causes hypertension).

I think you are right on the money about seemingly conflicting age of diagnosis for AD PKD. Because a healthy person has more than 2x the necessary kidney tissue to function, you wouldn't expect that you'd detect a decrease in kidney function for a PKD patient until more than half of your kidneys had already been destroyed by the cysts. Those are some big cysts at that point. An ultrasound can pick them up long before that point, but most people don't get kidney ultrasounds for fun. It seems like a good idea that you got a diagnostic ultrasound. I'm 32, and when I was your age mine were already 2.5cm in diameter each and too numerous to count. Even so, I've been told that I'm on a slow track course of the disease, and if I play my cards right, I may not even require a transplant until my mid-70s. Given this, even if you have PKD, it sounds like you are unlikely to be on a time course fast enough to require a transplant, unless you expect to live to over 100. Still, I'm not a medical doctor. If you really want to put that nail in that coffin, you could always get genetic testing.

As for the hypermobility, not everyone gets it, in fact not even most people with PKD get it, but PKD patients have a higher probability than normal folks. The way my doctor described it, cystic disorders in general (not just PKD) tend to have high co-morbidity with connective tissue disorders because they often arise from an abnormality in the production of extracellular matrix. I consider myself lucky though. I'd rather have trick joints than IBS or brain aneurysms. My heart is...well, backwards (?) but so far as I know, that is unrelated.

Backwards heart is pretty interesting. My cousin has a really weird, and really cool abnormality...

He has PKD. He was born wyan extra kidney somehow. 2 kidneys have cysts. The extra one doesn’t. He’ll be his own live kidney donor when the time comes.

As far as my family and goes with dialysis and transplants, the ages are all over the map. My oldest uncle started dialysis in his mid 20s. A few of my mother’s siblings haven’t started dialysis yet, with the oldest that hasn’t started being almost 60. And physical condition and lifestyle seem to have nothing to do with it. Just a really odd disease.

[JR 137]

I’ve got a torn labrum in my shoulder (kind of like the knee meniscus in the shoulder). I can do everything in class except push-ups. I hate being the guy who doesn’t do them while everyone else is. I do other stuff, but in my head I’m thinking everyone else thinks it’s a cop out. They all know and don’t care; it’s all in my head.

I know, it’s nothing compared to everyone else here. I just wanted to say it for full disclosure

[MatsuShinshii]

Forgot to mention cubital tunnel syndrome.

[Shizentai]

Backwards heart is pretty interesting. My cousin has a really weird, and really cool abnormality...

He has PKD. He was born wyan extra kidney somehow. 2 kidneys have cysts. The extra one doesn’t. He’ll be his own live kidney donor when the time comes.

As far as my family and goes with dialysis and transplants, the ages are all over the map. My oldest uncle started dialysis in his mid 20s. A few of my mother’s siblings haven’t started dialysis yet, with the oldest that hasn’t started being almost 60. And physical condition and lifestyle seem to have nothing to do with it. Just a really odd disease.

Being one's own donor, how cool! I wonder how one of his kidneys was spared, since he should have the same genetic backdrop in all 3 of them. I'm going to guess that the answer lies somewhere in the land of epigenetics. How fascinating!

Physical condition and lifestyle do have documented effects on the progression of the disease for some people, particularly in terms of blood pressure control and hydration. But you are right, the difference between PKD patients is substantial in terms of how much effect these changes can make. It's really only the lucky slow-course folks like myself who even get the option to make long term diet and fitness choices. Once function is down below a certain point, the progression is an unfortunately accelerating positive feedback loop. I've never gotten to speak to another person from a PKD family about their experiences though, so it's super interesting to hear about how things are for other people like me.

As for my backwards heart... Most people's hearts have a large, muscular left side that pumps blood to the body, and a smaller right side that pumps blood to the lungs. However, my small body combined with the resistivity in my lungs due to breathing problems means that my right side is actually bigger, because it takes more force to oxygenate my blood than to pump it around me. I've been told this is not a problem, just something unique.