Huntington's disease from the patient's point of view.
EARLY STAGE - ONSET OF THE DISEASE
How I look like People tell me that I have a bad temper, that I suddenly become irritable, that I have jerky movements that I don't notice.
How I feel I experience moments of deep mood depression, sometimes I want to die.
What I need Probably I need pharmacological help to control my mood swings. I don't need my movements to be blocked if the price to pay is to slow down my thinking, I don't want to take drugs that would paralyze my mind.
INTERMEDIATE STAGE - SYMPTOMS ARE EVIDENT
How I look like People on the street are watching me. Someone thinks I am drunk because sometimes I stagger and show an obvious hindrance in moving.
How I feel I probably have symptoms at a full-blown phase, they all notice by now. I feel observed, even when it is not true. I often have a recurring thought, I cannot get away from that thought.
What I need In this phase I should exercise my motor coordination. I may need psychiatric help to take care of my thinking without altering my ability to move. Rehabilitation aimed at speeding up my movements, attention and balance may help me.
ADVANCED PHASE - AUTONOMY IS REDUCED
How I look like I have uncoordinated movements and control. I react badly. I swallow with difficulty and risk choking with water. I always go to the bathroom, once I got wet
How I feel I feel slowed down. I constantly think of killing myself, I can't tell if I'm sad, but I want to die. I don't go out anymore and I don't want to meet anyone. My thoughts are, however, still alive and I hope that one day I will be able to recover.
What I need I need to feel secure, that people talks calmly to me and pander me. If I were treated for mood swings and assisted when I go out, without constantly falling down and without being ashamed, I would feel better.
FINAL PHASE - AUTONOMY IS LOST
How I look like I have lost weight, I do not swallow, sleeping is hard and I wake up continuously. The wheelchair allows me to move but I need help to get someone to push it.
How I feel I hope to have someone close to me, who will accompany me towards the end, without depriving me of my dignity.
What I need I'm not conscious, I don't know, maybe I need that people keep talking to me. I understand much more than it seems.
I ran the test and I was positive .... and now what should I do?
Today I can't prevent the disease yet, but I can contribute to the research participating in ENROLL - HD
Some trials are beginning to target people who are almost in my same condition. I need clear, simple, comprehensible and, above all, concrete indications.. Genetic and psychological counseling is my best support. Scientific research is my hope. Only those who study the disease can know it and therefore cure it.
Huntington's disease from a medical and scientific point of view.
Huntington's disease manifests itself through a progressive decline in cognitive abilities (thought, judgment, memory), movement disorders and behavior disorders.
The SYMPTOMS of the disease vary greatly from person to person, even within the same family. For some, involuntary movements may be prominent even at the early stages. Others, with less evidence of involuntary movements show instead emotional and behavioral symptoms.
In general, the first symptoms appear on average at the age of 40-50 years. he disease has a progressively deteriorating course, therefore movement and cognitive disorders get worse with the progression of the disease. Dysarthria, which manifests itself as a slowing down and disorganization of language, is associated with the difficulty of swallowing which is also a common symptom. The disease lasts 15-25 years fter the onset of symptoms, but it cannot be excluded that, in many cases, its duration may be longer, even 35-40 years. The most frequent causes of death are cardiac complications, aspiration pneumonia, hematomas from head injuries due to hyperkinesias or balance instability and suicide. Suicide, in particular, can represent a serious risk of death and occurs with a significant frequency, even in the early stages of illness. Choreic hyperkinesias of the face, limbs and trunk, together with gait disorders are the most typical signs of the disease, although about 8% of patients, along with those who show a juvenile onset, do not develop chorea but a progressive slowdown of movements.
Emotional/behavioral symptoms Depression, irritability, anxiety and apathy are frequent. Some patients may experience depression for months or even years before the first symptoms of the disease are evident. Behavioral changes may include aggression, personality changes, social isolation. Existing personality traits can often be exacerbated by the disease. For example, a person who tends to be irritable may become aggressive. Schizophrenic disorders and other serious, although rare, psychiatric problems may also occur.
Cognitive/intellectual symptoms Slight intellectual changes are often the first sign of cognitive disorders. Such changes may involve a reduced ability to organize routine situations or even a decreased capacity to cope with new situations. Short-term memory may be reduced while long-term memory remains intact. In addition, work efforts become very difficult. Symptoms related to movement disorder
Motor symptoms As mentioned, they can be extremely variable in their manifestations and not always easily recognizable. There can be a generic motor clumsiness or rather a tic-like disorder. Writing may change and facial grimaces may appear. Over time, coordination and concentration may be impaired, such as driving, which becomes more difficult. These initial symptoms gradually develop into involuntary movements of the head, trunk and limbs, causing problems in walking and voluntary actions. Speech and swallowing may be impaired. Movements generally tend to increase during voluntary exertion, stress or excitement, while they decrease at rest and during sleep.
THE EVOLUTION OF THE DISEASE
The course of the disease can be divided into 5 stages.
The first stage (stage I and II) includes manifestations such as subtle changes in coordination, some involuntary movements, difficulty concentrating and, often, depression and irritability. At this stage, medicines are often effective in improving depression and other emotional symptoms.
In the intermediate phase (stage II and III), involuntary (choreic) movements can become very pronounced. The staggering gait can be exchanged for manifestations of alcohol or drug abuse (it is useful to bring documents that clearly show the diagnosis of Huntington's disease). Speech and swallowing start to be involved. Reasoning gradually diminishes. At this stage it may be more difficult to execute a job and manage domestic responsibilities. Even in these cases, simple strategies can help diminish frustration, increase functionality and prolong autonomy.
In the advanced phase (stage IV and V), involuntary movements can occur that are increased in amplitude and frequency (severe chorea), which evolves into dystonia (persistent muscle contractions), which then evolves into rigidity. Difficulties in the ability to feed occur and this contributes to weight loss. In these phases, affected individuals are totally dependent on others for everything, they cannot walk for long and they can lose the ability to verbally express themselves. Although cognitive skills are severely affected, it is important to remember that the patient is generally still aware of his/her condition, is able to understand language and maintains the ability to express feelings.