Wheelie

Easter Monday.....used to be another holiday back in the old country, another day to go to church, visit the grandparents...probably something special on TV....left overs for dinner...
Here in the USA it's just another Monday...wash day...

But...I promised to explain Machado Joseph Disease.

When Wheelie and I decided to get married, he warned me that there was this weird phantom disease flowing through the family on his mother's side, at that time (1981) it was called Joseph's Disease.
Being in love and being young and full of energy I promised I could handle it, whatever came our way, we would be okay.

Here is a short explanation of the disease itself:
I borrowed it from the NORD website

Machado-Joseph disease (MJD)-also called spinocerebellar ataxia type 3-is a rare hereditary ataxia. (Ataxia is a general term meaning lack of muscle control.) The disease is characterized by clumsiness and weakness in the arms and legs, spasticity, a staggering lurching gait easily mistaken for drunkenness, difficulty with speech and swallowing, involuntary eye movements, double vision, and frequent urination. Some patients have dystonia (sustained muscle contractions that cause twisting of the body and limbs, repetitive movements, abnormal postures, and/or rigidity) or symptoms similar to those of Parkinson's disease. Others have twitching of the face or tongue, or peculiar bulging eyes.

The severity of the disease is related to the age of onset, with earlier onset associated with a more severe form of the disease. Symptoms can begin any time between early adolescence and about 70 years of age. MJD is also a progressive disease, meaning that symptoms get worse with time. Life expectancy ranges from the mid-thirties for those with severe forms of MJD to a normal life expectancy for those with mild forms. For those who die early from the disease, the cause of death is often aspiration pneumonia.

The name, Machado-Joseph, comes from two families of Portuguese/Azorean descent who were among the first families described with the unique symptoms of the disease in the 1970s. The prevalence of the disease is still highest among people of Portuguese/Azorean descent. For immigrants of Portuguese ancestry in New England, the prevalence is around one in 4,000. The highest prevalence in the world, about one in 140, occurs on the small Azorean island of Flores. Recently, researchers have identified MJD in several family groups not of obvious Portuguese descent, including an African-American family from North Carolina, an Italian-American family, and several Japanese families. On a worldwide basis, MJD is the most prevalent autosomal dominant inherited form of ataxia, based on DNA studies.

Back in the early 1970's, Wheelie was watching a program on a PBS station about a rare neurological disorder that was being 'discovered and studied' by a doctor Roger Rosenberg in Dallas.
This disorder was being traced back to People from Portugal in the Azores. At that time it was believed that only those people were affected, later on MJD was discovered in countries all over the world, but it's still to be thought of as a disease that originated from the Portuguese (they were world travelers/explorers after all)
Anyway, while Wheelie was watching, he thought that the sympthoms that were being described were very close to the ones his mother was experiencing, as well as his grandfather's.
Grandpa was a sailor from Portugal. He jumped ship in Oakland California, married a Swedish woman, had a family. The last 18 years of his life were spent in bed, no one knowing what ailed him, nasty rumours going around that it was syphillis. The stigma of this being a weird disease is still being felt today, as many families have been destroyed by either ignorance or fear.

Wheelie encouraged his mom to contact Dr. Rosenberg, and she was seen by him at once. A geneology chart was made up and it was discovered that her family traced straight back to one of the two families thought to have been the source of the disease (The Josephs and the Thomases, and the Machados from the island of Flores in the Azores)

The type of MJD Wheelies family has is SCA III, the late onset type. Which means that the sympthoms don't start until later in life, 40s and 50s. SCA III is a slower progressing type than the types I and II.

In 1994, a Japanse scientist finally discovered the DNA marker for this disease. Which meant that now we could be tested.

Of course genetic testing brings along a whole new set of problems. Damned if you do, damned if you don't. Think of obtaining health insurance, for instance, with this pre existing condition.

When I was pregnant with Bugs (before the gene was discovered) I had amniocentesis done. Not only because I was 35 years old at the time, but we also found a doctor in Vancouver who was studying the disease and was affiliated with the hospital where I was having the baby.
A great opportunity for him to get some 'stuff' he could study.

I asked him a few years ago if he still had the sample, and if he could test it. But at that time Bugs was 'of age' and would have to request the test herself.

Bugs has decided not to get tested. It was her decision. There is a 50% chance that Wheelie's children (and his grand children) have MJD. Once a parent is tested negative though, the disease can no longer be inherited.

Wheelies' children don't seem to have any sympthoms. But then we do not have much contact with them. His son was complaining about balance problems, which could be a sympthom, but this guy has been smoking a lot of dope in his life, so who's to say where that comes from. Wheelie suggested he get tested. He is 44 years old and has three kids.

Back in 1990, my mother in law lived in a tiny town in Oregon. When her husband passed away she was up the creek without a peddle. She was already in a wheelchair by then and needed constant care. She had wonderful people around her from the community, but it wasn't enough. She did not want to go to a nursing home, she wasn't about to give the government ALL her money :>)

So, we decided to move her in with us, here in Georgia. We bought a large house, settled her in.
I was full of energy, excited to be taking care of her, making her life easier, doing her hair every week, getting her some nice clothes, shaving her chin...
If there's one thing I've learned from that experience is that you cannot take a person out of his or her environment and change their lives, however well meaning the efforts.
After a year I was a mental case. Grandma had a mean streak, and was not easy to live with.
She broke her hip, which wasn't diagnosed until she fell again, and the doctors made X rays.

The poor thing could not sleep from the pain, was moaning all night long. It affected everyone in the family. She was a feisty lady, who wouldn't listen. She was "mean" to Bugs, thought we should paddle her when she was misbehaving. I could not stomach the diapers, the personal care, was just not ready for that.
Bugs, who was in 3rd grade at the time, an easy going, happy girl and a good student, her grades started to drop dramatically. She would not come home from school, afraid to face grandma. The teacher summoned us for a conference to ask what was going on at home.

I was under doctor's care, being treated for depression. I had to quit my job for a while, but could not stay in the house, so I started volunteering.

After she lived with us for about a year it was time to place Mom in a nursing home. We found a newly built one, pretty decent, and she seemed to be happy there. She was put on a feeding tube, and the staff was trying to teach her to walk and talk again (fat chance)
She lived there for another four years. The care was excellent, but it took me three years to set foot in the place. I was cooked, overdone, toasted!
Not until she got really sick with pneumonia, and reoccurring uti's, that I was able to go and visit her again.
After one visit, as I was leaving the home, I heard a voice back in the hall calling: "help meeeeee..." (wasn't grandma), it sounded so desperate, so pitiful, and it hit me like a ton of bricks. My emotional bubble burst and I fled to my car where I sat and cried for a long long time.
It was a cathartic experience. All of a sudden I found the strength again to function again.
Mom died in 1996, when she developed another bladder infection and her kidneys were shutting down, and she wasn't able to eat anything because her esophagus was atrophying, we decided on palliative care (she was OK with that.)
I spent the last evening of her life trying to feed her her favorite strawberry ice cream. The last thing she said to me was: This is the shits! It made us both laugh. I was finally able to tell her I loved her, and tell her goodbye...

So here we are, 12 years later. Wheelie started stumbling around about that same time. His speech was becoming slurred, he was having small 'incidents' with his car, people were looking at him funny (he acted drunk) He was arrested for DUI, even though he wasn't drunk. The last straw was when he ran into a ditch, totalling the car. No more driving for him.

We decided to move back to California. Since his kids were there I was hoping there would be some physical support, as well as having the entire family closer together, enjoying each other's company for holidays. (not! but that's another story)

I went west in March, in the Ford Explorer, towing a Uhaul. I wanted to be by myself for a few months. Got an apartment, was transferred from one Eddie Bauer to another, things went well. In August Wheelie and Bugs drove west with our dachsie: Cady. Bugs had just gotten her drivers license, and she drove all the way.

We lived in California for 7 years before we decided that we could not only not afford to live there, but also that the kids were not there for us. Perhaps I expected too much. (you think?)
Bugs did not like California and high tailed it back to Georgia after she graduated from high school.
Around that time Wheelie decided he did not want to "walk" anymore. Walking consisted of hanging on to me and a big stick, or hanging on to a shopping cart. He got into that wheelchair and never walked again.

So here we are, at this time, he is doing well. As long as he doesn't try to stand up (he shattered his fibula trying to stand to go pee, which episode set him back about 6 months) and break any bones he's fine. As long as he eats small bites, he won't choke. As long as he doesn't try and cut something with a knife, he wont' stab anyone. As long as he doesn't have bladder infection, we don't have to catheterize him, and so forth, and so forth........

A year ago he was diagnosed with prostate cancer. Initially he did not want to be treated for it. As he is 72, and since the MJD would kill him before the cancer could, he didn't want to go through radiation, or chemo. But we ended up compromising and he is now getting a hormone shot every 6 months. It seems to keep things at bay, for now. His latest PSI was extremely low, and that is great news.

This disease is not supposed to affect the brain, they say, but I am convinced that it has a severe effect on a person's mental and emotional state.
This man used to do and know everything. In a way he is like my father: if I can't fix it, it can't be fixed.
In a way he is a fatalist. He knows what's coming. He has been through it with his grandfather and his mother. He has never been much of a talker, doesn't share his feelings, keeps his thoughts for himself, is a pro at stone walling.
But this is his coping mechanism. This way he has some control over his life...by not freaking out; making my life a little simpler (he thinks) by not rocking the boat.

He has no social life, he is not interested in contacting his old friends or his kids, he is not interested in finding his half brother (even though I found him on the internet and have his address), he seems to be content with his daily little ritual. He also had a half sister out there, and through an internet search with her social security number I found out that she passed away. (I wonder if she had MJD, and if her family is aware of this disease.)

So he gets up, takes his shower, gets dressed, drinks his green tea, eats his toast, watches the Today show until 9 o'clock, reads the paper front to back, then watches a movie or putzes around on the computer. At six he eats his dinner, we then watch the news, Wheel of Fortune and Jeopardy.
When the baby is here he tries to play with her, watch over her.
He also listens to music. Loves his music. If there was no music, he would be dead. He also likes to read, but can only read a short time before his eyes start to cross.

I watch him sometimes, he dozes off a lot, refuses to be comfortable in a normal chair. Here is a guy who when stationed in Germany disabled nuclear missiles, he painted, he composed, he worked in the record business, knew famous artists, is a genius when it comes to knowledge about music. He developed a classical music appreciation class for his staff at Polygram, so that the sale people would know what they were selling.

It makes me incredibly sad. And proud too.
We have had a rocky marriage, but at this point I guess we're like two old worn out shoes, not much to look at, but comfortable.
Sometimes though I feel like a glorified housefrau. There is no intimacy of any kind anymore, not anyone's fault but the MJD. He pretty much lives in his own little world, I live in mine.
But maybe this is a good marriage, we both have our faults, we both have made some doozies of mistakes, but we're still together after 27 years. There is respect and mutual understanding, although I have a much shorter fuse and lower tolerance level than he has.

Only time will tell. For now things are going smoothly, but in the back of my head I am always on the lookout for that next trapdoor.

I hope this story isn't too long.
Have a great day y'all!

SGMKJ!