I had a call from Aya's mother one Wednesday afternoon in late September. It was around the time of day when the outpatients waiting to be examined and those who were undergoing an examination were all beginning to get a little tired of having to spend such a long time in the hospital. She told me she was preparing to publish Aya's diary,which had been written over a long period. She wanted to ask me, as her doctor, about the disease Aya had suffered from and also about my association with her.
While advising Aya to keep her notes in a diary and organize them into a book, I was concerned about the fact that there wasn't much I could do to help her. So I was relieved and very pleased to hear that publication was getting under way. Aya is no longer able to get up by herself and is now bedridden. She has to rely on someone to help her eat and do everything for her.
Her mother said she wanted to complete the book as quickly as possible for the sake of such a daughter. I felt a lump in my throat when I heard her mother's way of talking. I granted her request. At the same time, I thought that looking back would be a good chance for me to put everything together; my encounter with Aya was also deeply connected with my own growth as a doctor.
You may find what I have to say about Aya's incurable disease - spinocerebellar degeneration - a little difficult
to follow. But I hope you will read it carefully because it is important to understand her way of live.
What is spinocerebellar degeneration?
A human brain has about 14 billion nerve cells, supported by more then ten times that number of cells. The nerve cells are classified into many groups. Some function when you are exercising and others work when you are observing, hearing, or feeling something. As long as a person is alive, many groups of nerve cells are working.
The nerve cells inside the cerebellum in the brain, the brain stem, and the spinal cord are required for the body
to maintain balance reflexively, and to achieve quich and smooth movements. Spinocerebellar degeneration is a disease in wich those nerve cells gradually change and then finally disappear. We haven't yet discovered why they behave like that. According to nationwide statistics there are just over 1000 patients suffering from the disease in Japan. However, it is said that the real number of patients is two or three times that figure.
The most frequent symptom of the disease at the early stage is when you feel your body is swaying. At first you may think it's because you are tired or have anemia. But it gradually develops to the stage where you can't walk straight. People may start asking if you're drunk. Other early symptoms can include: dimmed vision, double vision, or things appearing to shake; difficulty in speaking because you can't get your tongue around certain sounds; difficulty urinating and the sensation of residual urine even after you've been to the toilet; feeling faint when you stand up because your blood pressure suddenly drops; etc.
How the disease progresses
The swaying increases, and you need some kind of support when you are walking. If it gets much worse, you
cannot stand by yourself with your legs together. Pronunciation gradually becomes unclear and your speaking rhythm deteriorates, so people cannot understand what you are saying. The movements of your hands and fingers can't be controlled as you wish. That means you have difficulty writing and nobody can read what you write. You can't use chopsticks when eating, and you can't carry food properly to your mouth, even with a spoon. And even if someone helps you to eat, it takes time to swallow, and you may sometimes choke and spray grains of boiled rice everywhere.
This symptoms progress little by little until you finally become bedridden. Then there are various dangers:
bedsores can get infected; you may develop pneumonia because food gets into the trachea due to the failure of swallowing; urine is left in the bladder, and an increase of bacilli leads to cystitis or pyelitis.
As a result of all or some of these symptoms a patient usually dies in five to ten years.
Is there no remedy?
Today there is no remedy available. The cause of the disease is still unknown, so we are groping in the dark
regarding proper treatment. There is a medicine that can temporarily prevent the disease from advancing or slightly slow down the speed of its advance. It has been drawing a lot of attention, but it hasn't been used for very long and we need to take a long-term view of its efficacy.
But thanks to the remarkable advances in genetic engineering in recent years, it is surely only a question of
time before it will be possible to determine the chromosome in which there is a gene that causes the disease -
if the disease is hereditary. Then it may be possible to replace that gene with a healthy gene. I sincerely hope
that the sad voices of the spinocerebellar degeneration patients and thair families will be fully added to the
debate over the rights and wrongs of gene manipulation.
But that is for the future. The most effective guidance for the time being is for patients to continue exercising
and training. They must try to maintain the strength of the muscles in their whole body, and look after themselves as well as they can.
How do you explain about the disease to patients?
It is not difficult for medical specialists to diagnose the disease. However, they tend to agonize over how they
should explain it to the patients and their families. Some doctors prefer not to tell the patients that there is
no chance of them getting better. Instead, they encourage their patients with words like, "Don't worry, you will
be cured." However, they know that the patient's condition will gradually get worse, and it's impossible for them to recover. They may explain this to the patient's family to a certain degree. Other doctors give up in despair and all they do is tell the patients and thair families that it's a very serious disease for which there is no cure.
What I say to patients is this: "It is very difficult to cure this disease. There is also the possibility it will
slowly get worse. However, today various types of remedy are being developed." Then I explain in detail how many more years the patient will probably be able to walk, and how long they will be able to sit and move their hands and legs.
Patients and their families tend to be temporarily shocked by the news. But they soon recover their normal spirit and start planning their new life and how to spend their social life while coping with the disease. Some patients, however, visit various hospitals hoping to get more reassuring words about a cure. They never come back to me as outpatients. That discourages me, because I start worrying I couldn't make myself understood properly. I have to conclude that to begin with we didn't have a good rapport.
I guess those patients and their families who stay with me have thoughts similar to mine as their doctor. Little
Aya Kito (referring to a grown woman like this may sound strange, but to me she is still 'Little Aya') and her
mother were among them.
First meeting with Little Aya
I had just returned from a three-year stay in the United States. I was working in the 4th Study Room of the 1st Department of Internal Medicine at Nagoya University Hospital (now the Department of Neurology) with Professor Itsuro Sofue. I was helping to analyze nationwide data on sinocerebellar degeneration. I also wrote the professor's findings about the outpatients in their case records.
One Monday, a junior high school girl with a short bob was brought to the examination room by her mother. In recent years, the number of specialists who examine nervous diseases in pediatric departments has increased.
So it was unusual for a child to come for a consultation at the Department of Neurology. I learned later that
Aya's mother was a nurse working for a health center in Toyohashi. She had discovered that the professor was the leader of 'the research team on sinocerebellar degeneration, a disease specified by the Ministry of Health and Welfare.' That explained why Aya had bothered to come all the way to our Department of Internal Medicine as an outpatient. It had been her mother's decision.
On the medical chart of the girl who sat in the middle of that bright consulting room in the early afternoon
was written 'Aya Kito, 14 years old.' Her small round face with eyes wide open gave the impression that she
was a bright girl. Her eyes looked worried as she glanced in turns at the professor and her mother as they talked.
After the first examination, the professor diagnosed spinocerebellar degeneration. He explained to Aya's mother about the disease. He gave instructions on how to get a CT scan for Aya to check the inside of her brain, a center of gravity oscillation test, and an eyball motion test. Those tests would provide a better analysis of the symptoms. He asked Aya to come back as an outpatient about once a month to check her condition.
I was impressed with the positive attitude of both Aya and her mother despite the great anxiety pressing down
on them. I felt a strong affinity with them. Soon I came to have my own outpatients in a different consulting
room, so I no longer had the chance of seeing Aya being examined. But we often went to the hospital on the same day and met each other in the corridor.
Aya's mother grasped the progress of the disease very well. She sometimes told me in a sad voice that Aya's
swaying was increasing and she had stumbled, or that her writing had become more disordered. Sometimes she also reported happily that Aya was doing well at school, was getting good grades, and had had an internal school report praising her good attitude, so she could enter a public high school. She also told me Aya had passed the 3rd level of the Practical English Proficiency Test. I kind of championed Aya who was doing her best to fight against her disease. "The third level of the Practical English Proficiency Test is quite difficult, you know," I said proudly to my colleagues, as if she was my own daughter."
One day, around the time when the cherry blossoms in Tsurumai Park were budding and the light pink petals were started to emerge, Aya's smiling face appeared round the corner of the curtain of my consulting room.
"Dr. Yamamoto," she said, "I passed the entrance exam!"
As I replied "Congratulations and good luck!", I couldn't help wishing that her disease would at least not
develop too far before her high school graduation. That also encouraged me to press on with my research on a possible remedy that was being developed.
The high school that Aya entered was located in Toyohashi in Aichi Prefecture. It was oriented toward
preparation for university entrance examinations. Her lively high school life began. But soon Aya's balance
worsened. She could no longer commute to school an a crowded bus every morning. Even though her mother was busy as a nurse, she took Aya to school by car every day. Aya sometimes fell over in her school days and came to the Outpatients' Department with cuts on her knees or a lump on her forehead. Her mother's face darkened momentarily as she told me that Aya's scores at school seemed to be getting worse little by little.
But immediately after that she smiled cheerfully and said, "But because her writing is so slow during tests,
she runs out of time. So it can't be helped, can it?"
In fact, Aya couldn't take notes properly. She also had to change classrooms for different lessons, and was
always late for classes because her movements were so slow. Her high school apparently regarded that as
a big problem. However, her classmates helped her a lot, carrying her textbooks or holding her hand when
they saw her desperately trying to walk. I can imagine how grateful she was, but also how frustrated she
must have felt about her disabled body. However, she was always smiling and her big eyes were active in her
face as it gradually went thinner and smaller.
It was decided she should enter the hospital during her summer holiday in order to try out the new medicine.