Chapter Two: The Diagnosis

It was the middle of a cold New England winter and, somehow, life still went on for us. Allison would graduate from the University of Rhode Island in May providing that she completed the 24 credit hours that she was enrolled in for the semester. With her newfound motivation, completing these courses was not in doubt. The biggest question seemed to be whether she would graduate summa cum laude or magna cum laude. It was that close! 

Since she was no longer driving, getting to and from school fell on me more than before. Usually, Allison would take a public bus to school and I would drive her home. The sights in Providence after her night classes were often quite interesting.

  We went to Allison’s primary care physician and asked to have the Huntington’s test scheduled. This man didn’t seem to know what Huntington’s Disease was, never mind that there was a test for it. He scheduled an appointment with a neurologist who was regularly named the top neurologist in Rhode Island by a local magazine. It seemed that he might have earned this distinction by writing the most scripts in the state. I asked him several very basic HD questions. He had no answers. It turned out that he knew next to nothing about HD, but he did schedule the test. Quest Diagnostics was scheduled to come to our house the following week to draw blood from Allison.

We all have two HD genes, one inherited from each parent. The HD test measures the sequence of repeated CAG nucleotides in each gene. The result is commonly referred to as our CAG count. Everyone has two CAG counts, usually good, but it only takes one bad one to cause Huntington’s Disease.  A normal CAG count averages about 17. (range 10-26). A CAG of 27-35 is considered expanded but does not put one at risk for HD. However, it could morph to a higher count in future generations and eventually lead to HD. A CAG of 36-39 is in the gray area and the person may or may not develop HD. A CAG higher than 40 means that the person will develop HD providing that they don’t die from something else first. Generally speaking, the higher the count is over 40 the younger the person will develop Huntington’s Disease. Also, the younger the onset of the disease the faster it progresses.

Protocol for HD testing requires several months of counseling prior to the actual test being performed. Doctors want to be assured that the person is ready to accept the results and is not in danger of harming himself. This protocol was not followed in Allison’s case. There was no  counseling, just the test.

The technician came out and drew the blood and we were told that we would have the result in about three weeks. There was really no suspense as we knew the result would be positive. The only real suspense was how bad would the CAG count be. Instead of getting the result, we got a call saying that not enough blood had been drawn and that Allison needed a new draw.

A tech came out again and the clock was restarted. In early April, I got a call from the neurologist who told me on the phone that the result was positive. This was another mistake by this doctor. Results should never be given on the phone and certainly not to anyone other than the patient. Allison was a competent adult at the time and I had no legal authority over her back then. We made an appointment for the following week to officially get the result. I decided not to tell Allison and let her hear the bad news at the appointment. I guess I chickened out.

Appointment day arrived and Allison and I set out on the drive to the doctor’s office. I tried to soften the coming blow with some sweet talk but Allison said to me “Dad, I know I have it. You don’t have to try to make it better. I’m not afraid.” The doctor gave us the bad news:  CAG of 60. I remember him saying at the time “this is a rather low count. I’m surprised she is already showing symptoms.” It turns out that a CAG of 60 is well above the threshold for Juvenile HD. Wrong again, Doc!  We were given an appointment with a Dr. Cha at Mass General Hospital and sent on our way.

That night, Allison and I made phone calls to spread the bad news. She first called her lifelong best friend Meghan. Meghan’s response was a bit shocking. Meghan said, “I will never see you again as I want to remember you as you used to be.” Meghan has held true to her word. As of this writing, Allison has never seen nor heard from Meghan again. I called my mother with equally disturbing results. Her response was, “I told you not to marry her. You got what you asked for.” She was always a very cold person. Allison decided to wait to tell her grandparents in person when they came for her graduation in a few weeks. People do not react well to Huntington’s Disease. Recently, a 10-year-old HD victim and her family from Michigan were taunted so badly by neighbors that they were forced to move. People we meet tend to say thoughtless things that upset Allison and me. People usually stop caring about HD when I explain that it is a genetic illness. When they learn that they and their family could never be afflicted, they lose interest very quickly.  That’s probably why there is so little funding for research.

Graduation was only a few weeks away and we were too busy to really absorb the diagnosis. Allison was finishing up her work and preparing for final exams. Her speech was getting harder to understand, a typical symptom of HD. Allison was very tired but was plugging on. I spoke with a dean at URI to inform her of Allison’s illness and she said that she would pass the information on to her professors. Allison reported that several of them mentioned it and kindly offered any accommodations that she needed.

Allison knew that she was doing well in all her courses and her main focus was on trying to graduate summa cum laude instead of magna cum laude. To do so, Allison needed to keep her grade point average above 3.7. To do this, she would need a grade of B or higher in her public speaking class.

Bruce Sundlun was a former two-term governor of Rhode Island in the early 1990’s. He was now a crotchety octogenarian who was spending his retirement teaching part time at URI. He was given an office with his name on the door which seemed to fulfill his need for recognition. Governor Sundlun was also Allison’s public speaking teacher. Needing a grade of B or higher in his class to fulfill her goal of graduating summa cum laude, Allison practiced very intensely for her final classroom presentation. When it was over, Mr. Sundlun gave her a grade of B- with the notation that she did not speak very clearly. Due to Mr. Sundlun’s lack of compassion Allison would graduate with a final GPA of 3.69 and with the second tier magna cum laude distinction.

Allison was working at breakneck speed to finish her classroom requirements. She had taken some time off from the store as she was completely exhausted. After Allison had turned in her final papers and taken her final exams she came home and collapsed. We spent that  night  at the emergency room at Kent County Hospital.

Graduation was just a few days away. Allison was allotted five tickets to the ceremony. Her grandparents would be coming from Georgia. Rob would be coming from Providence being fully recovered from his battle with Hodgkin’s Disease. I called and invited my mother who said that she would see if she could make it. I offered to have Rob pick her up and told her that I would send her a ticket. She lived just 15 minutes away, but we never heard from her. I made reservations for six at the Harbourside Restaurant for graduation evening.

Bob and Midge arrived from Georgia a couple of days before the ceremony. On their first night in Rhode Island, Allison slept over at their hotel and told them about her diagnosis. They took it quite matter of factly.

Graduation day arrived  and Allison was prepared to receive her diploma. Her cap had a cow attached to it and she was ready to walk in the procession. I worried as it was a very hot and sun splashed day and I hoped that Allison would have the strength to hold up. As the procession moved along Rob, Bob, Midge, and I sat intently waiting for a glimpse of Allison. My mother’s chair was empty. When Allison reached the podium and received her diploma, a gust of wind blew her cow cap into the crowd never to be seen again. The times they would be a changin’!

We had a nice dinner at the Harbourside again, with my mother’s chair empty. Bob and Midge stayed a few more days before returning to Georgia. The graduation hoopla was over and suddenly things were very quiet.

It was late May 2004 and suddenly life was very slow at our house. The appointment at Massachusetts General Hospital was still a few weeks away and Allison was in kind of a holding pattern. She was too tired and depressed to work and didn’t have much to do to pass the time. Her friends were all scattered, she couldn’t drive, and she even had trouble using the keyboard on her computer.

Allison asked me if she could get a dog. We already had Flash, who was half Basset Hound and half German Shepherd. Flash was pretty old, and he and Allison had not bonded since he bit her a few years back. We also had a cat named Fenway who spent a lot of time hiding in the basement rafters. I told her that if she found a dog she wanted at the rescue league, I’d consider it. She wanted a small dog and saw an ad for a chihuahua at the Cranston dog pound. We drove to the pound, but the dog had already been adopted.

Allison was heartbroken. I told her that we would drive up to the Providence Animal Rescue League to see what they had. At the PARL, Allison fell in love with Bocce, an 8-year-old orange dachshund. We took him for a walk, filled out the adoption application, and then drove home. The next day we received a call that he was ours and we drove to Providence to pick him up. The newly renamed “Pawchy” sat on Allison’s lap as he rode to his new home. Pawchy adjusted well to home life and helped keep Allison occupied.

It looked like Allison would probably never work again. She was too confused, tired, and depressed to apply herself to working. When she had last worked at the store it was quite obvious that something was amiss and customers kept asking her “what is wrong with you?” When she told them that she had Huntington’s Disease they usually chuckled and went on their way.

In June I took Allison to the Social Security office to apply for disability. To my surprise, the process was not unpleasant and the folks in the office were quite helpful. They steered us to other resources that she was also eligible for. Her disability was approved just a few months later.

In mid-June, we set out for her appointment with Dr. Cha at Mass General. Dr. Cha was a nice man who had grown up in Rhode Island. Allison connected with him right away. An added bonus was that he knew a lot about Huntington’s Disease. We told him that Allison would be interested in participating in HD clinical trials and Dr. Cha took note of it. Unfortunately, Allison fell short of the 25-year age minimum for the trials. Dr. Cha wrote some scripts, talked about a supplement regimen, and tried to offer some hope. We drove home feeling good about the visit.

Allison was talking about making a trip down to Georgia. I was a bit reluctant to let her go alone and Meghan, who often went with her, had recently abandoned Allison. I thought that perhaps she, Pawchy, and I could drive down. I had never been to Georgia and could use a few days of vacation.  We left at 5 o’clock in the morning on the 4th of July and arrived in Warner Robins, Georgia at 11 o’clock that evening.

Allison was now an old pro at Georgia life, but I was a novice. I have to admit that I was kind of smitten with the likes of Sonic, Sonny’s BBQ, and Zaxby’s. Someone, probably Midge suggested that Allison and I move to Georgia. I dismissed it as just a silly idea. We stayed about five days and then drove back to Rhode Island to continue our now kind of directionless life.

Fred pretty much ran the store from dawn to dusk and I mostly stayed home with Allison to keep her content and safe. I became active on internet Huntington support sites, and I dove head first into learning all that I could about HD. In the back of my head I kept the thought of moving to Georgia.  The real estate market in Rhode Island was nearing the top of a bubble. I had owned my house for twenty years and the store for fifteen. Maybe there would be no better time to sell.

I started doing jobs around the house that had been neglected for years. I powerwashed and painted, cleaned and discarded, patched and polished. Pretty soon things were looking pretty spiffy. I wondered what my house was worth. I started researching real estate on the internet, both in Georgia and Rhode Island. I was surprised that I could buy a nice house in Georgia for a third of what I could sell my house for in Rhode Island.

When my wife first got sick, I was just a few years out of college, working at the state’s largest newspaper, and attending law school in Boston part time at night. My son was just starting school and Allison was a newborn. I slowed things down but couldn’t really stop my life to fight her illness. I vowed that my approach would be different with Allison. I thought that moving to Georgia might make Allison happier and afford me some help with caring for her. I discovered that the first Huntington’s Center of Excellence which provided care and support for HD families was located at Emory University in Atlanta. I started to really think about the move.

By September of 2004 Allison’s condition was about the same and I was giving serious thoughts to moving. I called a business broker to get an idea what my store could fetch. I ended up giving him the listing and my midlife change was started! Since the store would be much harder to sell than the house, I could not list the house until we had a buyer for the store. I could live without a store but I could not live without a house.

October 2004 was a great time in New England due to the Red Sox march to their first World Championship in 86 years. Allison went to several games with me and seemed content enough staying at home with Pawchy most of the time. We went to see Dr. Cha again who really didn’t have anything new to offer us. Allison understood that we might move south and seemed happy about it.

By November we had a serious buyer for the store and I decided that it was time to put the house on the market. I contacted the same broker who  had sold it to me in 1985. He suggested a few upgrades to facilitate the sale and then suggested that we wait a bit as the market was overheated and the house would move quickly.

Allison was itchy to visit Georgia again and I decided to let her fly down for Thanksgiving. She took a non stop flight so that nothing could really go wrong providing that she was met by somebody in Georgia.  Allison, assisted by Bob and Midge, scoped out houses in the Warner Robins area. I got reports and pictures from her of houses that she thought might suit us. I sent her addresses of houses that I thought might be good. Allison stayed in Georgia for almost a month and this allowed me to get things completed in Rhode Island.

On Thanksgiving Day Flash quietly passed away at about the age of 17. I buried him in the backyard and no longer had to worry about him moving to Georgia with us. Pawchy and I were bonding and he would be ready to move south when we were. If I could get Fenway out of the basement ceiling he would be joining us too.

By the first of December the business broker had irritated the buyer and the deal for the store fell through. Since I was really angry and his contract with me was up, I terminated the broker and decided to sell the store myself. Within a week I had a rock solid buyer at my asking price. It was time to get serious about the houses.

Allison found a house in Georgia that was perfect for us. It was a brick ranch built in 1965 with three bedrooms and two baths, a gunite inground pool, underground sprinklers, hardwood floors, and in a decent neighborhood. It was about a mile from Bob and Midge’s house. I made the deal on the phone and pending inspections and title work a tentative closing was scheduled for early  February 2005. Allison flew home for Christmas, a job well done!

After a quiet Christmas in Rhode Island we started to prepare for the move. Many trips were made to the dump to throw out twenty years of unwanted junk.  As he had promised, the real estate agent found a buyer for the house in short time. A closing on the house was scheduled for mid February. A closing on the store was scheduled for late January. For the first time in a while Huntington’s Disease was taking a back seat which was nice. As it would turn out, this was the last time in my life that HD would be on the back burner.

The closing on the store took place on February 2’nd and for the first time in fifteen years, Parkway Deli had a new proprietor behind the counter. It sure was bittersweet.  The next day Allison and I flew to Georgia to close on our new home down there. I saw what I thought was going to be my last home on earth for the first time that day. We bought two new bedroom sets, picked out a new futon, and arranged for the hardwood floors to be refinished. The next day we had the closing and then flew back to Rhode Island.

Back in Rhode Island I contracted a mover to haul our things to Georgia, gave away things that I didn’t want to take south, and waited for the closing. We closed as scheduled and went to celebrate at Bugaboo Creek with Rob, Fred, and Fred’s parents. Allison, Pawchy, Fenway, and I spent the night at the Motel 8 in Warwick. Fred came by in the wee hours of the morning to say good bye and off to Georgia we went. We took two days to drive down and arrived in Warner Robins the day before the moving van did.