Dementia

Feb 132014
 

The paperback version of Rolling Back: Through a Life Disabled

The paperback version of Rolling Back: Through a Life Disabled

Rolling Back has been published in paperback and is available on Amazon for $6.99 ($6.64 for Amazon Prime members). There is also the Kindle version that costs $2.99. I have provided links to each of them below.

Writing and publishing Rolling Back as been a personally rewarding experience that I wouldn’t trade for anything. Several people have urged me to write another, and I will probably try. However I think I’m ready for a change of pace and may attempt a fiction novel next. I’d be interested to hear your thoughts.

Paperback:

Kindle:

Feb 042014
 

This is the cover for my new book. The art is a slightly modified version of one of my late wife's paintings.

This is the cover for my new book. The art is a slightly modified version of one of my late wife’s paintings.

My book, Rolling Back: Through a Life Disabled, has been published and is available as a Kindle version on Amazon. You don’t need a Kindle to read it, you can read it on any computer or any tablet for smart phone using the free Kindle app. Kindle owners who are Amazon Prime members can borrow it for free.

Rolling Back will be available as a paperback in a few weeks. Right now it is only in the Kindle format, but will be expanded to include other e-readers in three months. The price for the Kindle version is just $2.99. If cost is an issue I hope to be able to offer it free for five days on Amazon. When that happens, I will let everyone know.

Feb 192013
 

My wife had myotonic dystrophy. It was the underlying cause of her early death. Although we knew of her condition for the past 7 years, we were unaware just how life-threatening it could be. Unfortunately, her doctors were also ill informed since myotonic dystrophy is not a common illness. I am presenting some information here in the hopes that it could be useful, and even life extending, for others who may have myotonic dystrophy.

Myotonic dystrophy is caused by a defect in a specific area of chromosome 19 called DMPK (dystrophia myotonica-protein kinase).  It is normal for protein sequences to repeat a few times, however when a particular sequence in this region repeats more than 35 times, a person is said to be affected by myotonic dystrophy. This was discovered in the early 1990s and since then, suspected cases can be confirmed by a genetic test. Myotonic dystrophy is an inherited disease. It is passed from parent to child in an autosomal dominant fashion. This means that if one parent has the disease, their offspring each have a 50% chance of also being affected. Moreover, the disease tends to become worse with each successive generation. Thus, if a parent had a mild form of the disease, their child could have a classic or even a congenital form.

Myotonic dystrophy is classified based on the number of times the protein sequence is repeated. Fewer than 35 repeats–normal, no disease indicated. 35 -100 repeats–mildly affected by myotonic dystrophy. (However, their offspring have a 50% chance of developing the illness, possibly in a stronger form.) 100 – 1000 repeats–the person has the classic form of myotonic dystrophy. Beth had 212 repeats and was seriously affected..

Until 1992, myotonic dystrophy was one of many neuromuscular diseases that was difficult to diagnose with certainty. Since that time, the availability of genetic testing means that a person can be determined to either have the disease or not. Unfortunately, having this diagnostic capability for such a short time means that there have been many undiagnosed cases and therefore there are large numbers of people today who may be at risk for the illness and not know it. In my wife’s case, we will never know for certain which of her parents had the disease, although we are fairly certain it must have been her mother. For those with the mild form, they may have a normal life span with little physical symptoms. The most typical symptom would be early-onset cataracts, the possibility of diabetes, and the typical myotonia (the inability to relax one’s grip easily).

Beth wobbling along at the edge of the Grand Canyon in 2004. A year later she would be diagnosed with myotonic dystrophy.

For those with the classic form, there are many symptoms affecting various muscles and organs. These include weakening of muscles in the forearms and hands, calves and feet, shoulders back and face, and diaphragm. Those weaknesses can affect a person’s ability to walk, keep their balance, perform fine motor skills with their hands, and breathe. Men may experience infertility. Women with this form of myotonic dystrophy frequently have difficulty with childbirth. (My wife suffered through many hours of unproductive labor before eventually giving birth via cesarean section to our first child.)

Weakness in the facial muscles can cause a person’s appearance to change rapidly. There can be loss of hair on the front of the scalp, drooping eyelids and an open mouth. These weaknesses can also cause frequent jaw dislocation, and difficulty swallowing.

Cataracts are very common, and an alert ophthalmologist can be the first to raise the possibility of myotonic dystrophy with the patient because the types of cataracts have a distinctive appearance when they are caused by myotonic dystrophy.

There is an increased likelihood of diabetes and cancer among those who have the classic form of myotonic dystrophy. They will also be more likely to have digestive and intestinal issues.

There are numerous hormonal consequences, including reduced sex drive, early infertility, insulin resistance, and thyroid problems. There can be increased chance of gallbladder inflammation, problems with the pancreas, and chronic constipation.

The most common causes of death for those with myotonic dystrophy are respiratory failure and cardiac arrest.  Most articles you will read about myotonic dystrophy recommend yearly EKGs because there is the likelihood that cardiac arrhythmia may develop. What they don’t say, is that there should also be a 24 hour Holter study done from time to time, as this is more likely to catch an arrhythmia that comes and goes. Thanks to having an autopsy performed following my wife’s death, we now know that she had been having episodes of insufficient blood flow to her brain for some time that had not been detected by either the annual EKG or MRIs. The MRIs would have shown more if we could have used contrast medium with her but unfortunately her kidneys had been damaged to the point where contrast medium was not possible. She died when a combination of factors overwhelmed her.

It is especially important that an anesthesiologist know about a patient’s status with myotonic dystrophy as the patient will be at much higher risk of respiratory issues.

Here are some things to look for:

An unusual walking gait where the foot seems to slap down on the ground, preventing the normal flowing motion of a healthy walking motion.  There may also be an increased likelihood of falling.

Early-onset cataracts, especially “Christmas Tree” cataracts on the back of the lens.

Difficulty relaxing ones grasp on an object.

Excessive sleepiness.

Download large format poster.

Important disclaimer: I am not a medical professional and what is on this page should not be considered medical advice. I have read a great deal about my wife’s illness and have attempted to present the information in a more readable fashion here. I am providing you with the links to my sources. You should also know that I’m only covering the mild and classic forms of type I myotonic dystrophy. There is also the congenital form which can affect infants at birth and type II myotonic dystrophy where a different gene is affected and the disease is generally not as severe.

http://mda.org/sites/default/files/In_Focus_MMD.pdf
http://en.wikipedia.org/wiki/Myotonic_dystrophy
http://medicine.yale.edu/neurology/divisions/neuromuscular/md.aspx
http://ghr.nlm.nih.gov/condition/myotonic-dystrophy

Oct 142012
 

Beth at Art Reception

Beth at an art reception last year.

Three nights ago I got those terrible phone calls. The first was from my wife’s new assisted-living facility. She was being rushed to the hospital. The second call was from my daughter who was on her way to meet the ambulance and said she would send her husband to get me. When I got inside the emergency room my daughter met me and said “brace yourself, it’s very bad”. Beth, my wife of 38 years was lying on the bed, a ventilation mask over her face, her chest heaving in response to the high amount of pressure they were using to force air and oxygen into her lungs. My daughter explained that without that she could not survive. Although my wife had a Do Not Resuscitate order, my daughter made the decision to allow them to take this extra step to keep her alive until I could be at her bedside and to give us time to bring our two daughters down from Orange County.

So we talked with her as her body struggled. She managed one-syllable answers and at one point opened her eyes and squeezed my hand. Then our daughters arrived and we gathered around and told Beth how much we loved her (although there really were no words that could possibly say how very much that was).

Beth on the beach with our daughters.

Each summer Beth and our daughters would stay at the beach in La Jolla for a couple of glorious weeks.


The doctor gave her pain killer and a sedative, then removed the mask. We held Beth and continued to talk with her as she struggled to breathe on her own. All too soon, she took her last breath and I felt her fingers relax their hold on mine. My wife, my soulmate, the mother of our children, was gone.

As I write this, there is no way to describe the agony. If I could, I would change places with her in an instant, but I can’t. Somehow I have to make sense of a life that doesn’t include Beth and try to use the time I have left to continue to write and help the world know more about the wonderful woman it has lost.

Spring Ahead Watermedia Painting by Beth Shirk

One of Beth's last works of art, Spring Ahead won many awards and now hangs in my room.

Oct 092012
 

Beth at Sunshine Week One

Beth in the patio of the memory care facility shortly after moving in.

I really appreciate the words of sympathy and encouragement that I have received regarding the latest setback in our lives. I wish I could say that Beth is adjusting to life in the memory care facility, but so far she is not. Just 5 days after moving in, she tried to get up in the middle of the night because she thought I was in the room and wasn’t answering her. She fell and was transported to the hospital. Fortunately no broken bones, just bruises.
I am now trying to learn more about her disease. Not easy since the doctors couldn’t give us a diagnosis beyond some kind of dementia with psychosis but not Alzheimer’s. I’m trying to find a caregiver support group. Not being able to drive and having the terrible public transit system that we do in San Diego just makes matters more complicated. The one good thing about all of this is that I go days at a time without even remembering that I have iInclusion Body Myositis (or that Beth has Myotonic Muscular Dystrophy).

Sep 282012
 

Beth on cousin's deck in Englewood, FLA

Beth on the deck of my cousin's apartment on the Gulf coast of Florida, about 39 years ago.

Forty years ago, when Beth and I met, we fell so hopelessly in love we were willing to uproot both of our lives so that we could spend the rest of our years together. We were inseparable, holding hands wherever we went, even on our way to the laundromat where we would sit together and watch our clothes dry. We had two beautiful daughters, now with families of their own. I learned to share her love for art, and we began our retirement intending to spend the rest of our lives painting together. When I became disabled 15 years ago, she helped me cope. Then she became disabled a few years later, as though we needed to share that too.

For the past year or so, Beth has been leaving me. Not out the door or to the arms of another, much farther than that. Her brain is taking her slowly but certainly to a place that I can not visit nor even comprehend. And now this terrible illness, yet to be named despite two weeks of trying by a team of UCSD doctors and psychiatrists, has progressed to the point that the unthinkable is happening. In order for her to receive the kind of care she needs and deserves, she must move to a special facility, and there is no place for me. I can visit as often as I wish, and I will. But when I return to my room, with its ceiling lifts and hospital bed and accessible fixtures, there will be no soft greeting to make this austere environment feel like home. Even worse is knowing that she will also be alone without the hope that I might rescue her from the tigers and lions, snakes and assassins and all the other evil images that come stalking as the light fades. I hope this new place, and new medicine, will make them go away. But even so, I know that the illness has also taken her ability to understand the reasons we are apart. Beth will only know that I am not there, and wonder why the person who once happily spent hours helping her pick curtain fabric has vanished into the murky night.