Family Genetics
Oct. 1st, 2017 06:03 pm![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png)
The doctor and two of his aides spent almost two hours questioning us and performing tests. Since I told them Gretchen's condition might be genetic, and that I had some of the same problems when I was a child, they observed both of us. They watched us walk and tested our reflexes. Both of us have no reflex response in our feet, although I responded to the tuning fork test and knee reflex test.
The problem we had, -and I had this same exact problem when I was a child- is that we had a symptom here and a symptom there for a number of different ailments. IE: The EMG/NCV is a test for the various forms of CMT, yet Gretchen and I are both strong, vigorous and have no signs of muscle weakness. Just the day before, I had thrown a 60lb parcel into the APC at chest level, just because I didn't want to make an extra trip to the truck. The nurse thought Gretchen might have swam for fun or competitively because she's strong in her legs. She also has backward bending elbows, which I take to mean double jointed.
The doc confirmed what I had read from other moms online, that Gretchen's incontinence might be due to intermittent constipation. That explains the diarrhea here and there. The lady aides examined her bottom and found no irregularities or muscle weakness. If nothing comes of the CMT testing, then the doctor plans on doing the tethered cord test and possibly an MRI.
When I told mom about what happened, she asked me if I told them about bowleggedness running in the family. I had told the nurses but not the doctor. I'll bring it up next time. It might be something simple as CMT, yet I have a feeling that if it were something simple, it might have been called out by now. We have a lot of weird genes on the dad's side of the family, -some people have even been diagnosed with various mental conditions- yet nobody has been able to come to a consensus.
I looked up bowlegs on a search engine. Articles about it said it was a condition mostly caused by malnutrition, rickets in particular, yet sometimes it could be caused by a rare genetic disorder. When I looked them up, none seemed to fit. One condition (Blount's Disease) afflicted African Americans, who have to wear leg braces. Another was x-linked which means fathers couldn't pass it on to sons. Others caused dwarfism and mental retardation. Not only do people tend to run tall on dad's side, but they are also of above normal intelligence.
Yesterday, I questioned mom about CMT and bowlegs. She told me she had encountered CMT patients in the nursing home. They were all bedridden by their 50's and 60's and were there to be treated for bed sores.
She asked dad how many of his brothers had bowlegs. He said of his five brothers, The Duke, Tony and himself had them. Randy, Nick and Danny didn't. Dad was the only one who was athletic, then had to have surgery in his 20's. I remember being in grade school when he had surgery. They had to do one leg at a time, cutting out a wedge of bone, then snapping the leg bones straight. Mom brought up how he had no sisters and has few nieces. It's difficult to tell how this problem affects females. Of my parents' children, three of the boys had bowlegs, Sofie was normal, and I have the subtly deformed feet. Benny's legs were so bad, he had to wear casts for the first three months of his life. The others were able to have their legs stretched when they were babies.
It would have been helpful if The Duke either had girls or if his three weirdo sons would have reproduced by now and had girls. Unfortunately, all three are childless. The wife of the only married one is sterile. The reason I bring this up is because The Duke is the only brother who is the spitting image of Demon Grandpa. Of the other brothers, Nick and Tony were dark and had the Asian looking eyes, Danny just had the eyes but otherwise looked like the mom, and Randy and my dad looked fully like the mother (thank God). The Duke had all the worst features...long jaw, Asian looking eyes and bowlegs.
I have to wonder if these genes all come together and tie into mental state as well. What I jokingly refer to as the 'mystic gene' is strong in Duke and Demon Grandpa. They both had oddly toned voices and were violently insane, so much so that they couldn't handle their own neurological idiosyncrasies and self-medicated with hard drugs. Grandpa was a raging alcoholic who used to regularly beat his wife and kids. The Duke wasn't quite so bad. He might have slapped Judy and kids around a time or two, but he didn't make it a habit. He drank heavily, and dad told me his veterinarian friend used to slip him horse tranquilizers. He was big on sedation.
Side notes: I should mention that dad never laid a finger on mom and us kids. He had a raging temper but showed a lot of restraint. Uncle Nick was diagnosed with paranoid schizophrenia in his teens. He never stayed on his medication and constantly acted nutty...in and out of mental hospitals. He died of 'complications due to diabetes' shortly after I went regular at the post office.
Demon Grandpa might have had ptsd from serving in WWII, but dad disagrees, saying he never saw real combat, just went around being a medic and recovering dead bodies. -Not that one would consider that any fun, but it's not the worst soldiers experienced in war time. Dad was so pissed at him for his misdeeds, he wouldn't go see him on his death bed to get an apology, and he has no regrets for not doing so, even though he's generally a kind-hearted person.
The Duke passed on his bad genes to all three of his boys. Two had the jaw, and all three had the oddly toned voice. I've always thought my voice was bad, but it's nothing compared to them. At least mine is mellifluous and I can sing alright. Theirs are all shockingly deep, shrill and horrible. All three were (mis?)diagnosed with OCD when they were children, although I tend to believe their mental states are more to do with a genetic quirk running in the family, the 'mystic gene'.
Just for fun, I went through old year books to find pictures. I had a recent picture on a Christmas card but accidentally deleted it when I rebooted my computer. Before I start showing pictures, I'll tell a little story. Once upon a time in high school, I had some cousins right around me, Bazza and Benny's age who were normal dudes, albeit a bit strange looking. One day, they all woke up and decided they wanted to become total fucking weirdos. Justin (my age) grew his hair longer than mine and started wearing all black. Josh (Bazza's age) had dirty blonde hair he eventually grew out super long and dyed black. One day, he wore a dress to school because he was extremely desperate for attention. Nobody would bat an eye today, with transgenderism and cross-dressing being all the rage, but back then he was a huge embarrassment to the family. Both my brothers wanted to kick his ass.
Justin and I were both rivals who looked upon each other with disdain, him because his family did nothing but tell him he was better than me. Me because he was a hideously unattractive freakish weirdo who loved to play up how strange he was, whereas I was desperate to be unassuming and not always successful. I had my moments though. I used to dress in bright colors and wear a lot of jewelry back then. Anyway, we were drawn together and spoke a lot, probably because on a genetic level, we understood each other and had that need to bounce crazy ideas off another with the 'mystic gene'. We'd stand around and talk about weird shit like ghosts and witchcraft, while people walked by looking at us and shuddering.
Now some pictures, so readers can see the 'curse of our family' that is the jaw:
Normal looking Justin:
Black Justin in group photo. I'm surprised he consented to having his picture taken. He has no senior pictures because he believed that photos took a portion of ones soul. I had an attitude like it wasn't a zero sum game. I felt I had deliberately put my soul into this and that and still felt solid. I circled Justin and my over-sized child looking self in red:
I have the shoulders of a line-backer in this piccy. How much you want to bet I'm wearing a red shirt?
Here's cross-dresser Josh. I had a laugh at how I put that smart-ass comment by his photo:
Just for fun, I included some pics of Bazza and myself. Those nerd glasses of mine were god-awful. Bazza took after dad and looked like a kid well into adulthood, until he joined the army and bulked up.
Here's a picture of The Duke I got stalking his FB page. None of the others have them, too bad. Even though he's standing with his left leg tilted, one can still tell his right leg is severely bowlegged:
This was a fun story to tell, but it's possible there's nothing at all wrong with my family. Maybe we just have some unfortunate features that might be symptoms of a greater disease if too many are put together but mean nothing alone. There's also the 'family demons' theory..that tragically and coincidentally, so many of us have experienced extreme emotional hell that we've become mentally strange from that. Tests on Gretchen might be a complete waste of time, but I don't feel too bad. We could get peace of mind either way, then let Gretchen enjoy the holidays, maybe getting the surgery during the shiddy, do-nothing months of Jan-March.