Canavan Disease: Treatment, Cost and Side Effects

It is a hereditary condition which prevents nerve cells from sending and receiving information. This nervous disorder commonly visible in among ethnic background. One in every 6400 of the Ashkenazi Jewish population is affected with Canavan disease. It rarely affects the general population. Large head circumference, poor neck, and head control, poor visual responsiveness, flexed arms, unusual posture, difficulty in eating and sleeping are the common symptoms. Some children tend a difficulty to crawl, walk and swallow.

Canavan is one among the genetic disorders also known as leukodystrophies. This can affect the thin coating, myelin sheath which helps the nerves to transfer a signal from one to another. Children having this lacks aspartoacylase (ASPA) which is an important enzyme which helps in breaking down the N-acetylaspartic acid into the materials which make up myelin. For a child to develop Canavan disease, both parents must carry the defective gene that causes the absence of ASPA.

It is a gene-based neurological disorder which leads to degeneration of the brain into spongy tissues which will later be filled with fluids. They fall into the category of group genetic disorder known as leukodystrophies. Researchers have found that brain cells are making oligodendrocytes, myelin sheaths which prevent the critical development tasks. These behave like insulators for nerve fibers and they provide nutritional support functioning for nerve cells. Recent research has indicated that the cells in the brain responsible for making myelin sheaths, known as oligodendrocytes, cannot properly complete this critical developmental task. Myelin sheaths are the fatty covering that act as insulators around nerve fibers in the brain, as well as providing nutritional support for nerve cells. It is diagnosed using a prenatal blood test which can determine whether the fetus has Canavan disease. The blood test checks for missing enzymes and whether the gene is having mutations which can control aspatoacylase. If your gene has Canavan mutation then it is better to check before getting pregnant. During pregnancy, you can undergo a blood test which can help in finding out whether your baby is affected by Canavan disease. Both parents must have defective genes for a child to be affected by Canavan disease. Important aspects related to the treatment are as follows: There is no as such treatment or cure. All that can be done is reducing symptoms and improving the quality of a child’s life. The treatment is decided based on individual symptoms one is having and the treatment plan is based on the analysis by a pediatrician with you and your child and then deciding what best can be done. Swallowing problems are treated using feeding tubes. This is to ensure that the child is getting all the essential nutrients they need. Also, fluids intake is checked to keep the child properly hydrated. Posture difficulties are treated with adequate types of equipment and physical therapy. Seizures are treated and controlled using lithium-based medications. Gene therapy treatment is one treatment which is helping people to get cured of Canavan disease. The genes inside your brain cells are altered which will positively treat or stop the disease. It is just faulty genes that are getting replaced in order to improve the body’s strength and ability to fight the disease. Gene vaccines are coming up and are injected into the patient’s brain. This has shown a significant result. They tend to improve control and vision. They tend to make children communicate better.

Early symptoms of Canavan disease starts appearing during the first 3 to 6 months of a child's life and progress rapidly. Those who lack motor development, have feeding difficulties, weak and abnormal muscle tone, has abnormal large and poorly controlled head can undergo diagnosis and treatment. Children having symptoms of paralysis, blindness or hearing loss can also consider treatment. This is common among ethnic groups like Ashkenazi Jews and among people from Poland, western Russia, Saudi Arabians, eastern Poland.

People at early symptoms are supported by general therapies and medications. People having a weak health condition and who has crossed teenage are usually not advised to take up the surgery or gene therapy.

Canavan owns a poor prognosis. Studies show that children die before reaching 10 years of age. Hardly some children survive into their teens and twenties. Though they survive paralysis, blindness, hearing loss tend to trouble them and affect the quality of life. Most of the children lead a quite pathetic life. The child shows a delayed development. They lack the typical language and other basic skills. There are some side effects of gene therapy treatment. Inflammation can occur by the new working gene copy due to the response from the immune system. The gene might be slotted in a wrong spot. Sometimes it starts producing the much higher enzyme or protein which is been missing. This can cause other health problems.

Brain atrophy is seen among patients as the symptoms advances. There is no as such any standard course of treatment. The treatment is constant support and helps them to lead a better quality of life.

There is no as such recovery for this disease. Usually, genetic disorders are difficult to cure. Most of the children tend to face difficulty in swallowing, walking and seizure-related issues continue and persist for a long time. It is unfortunate that it is rare to recover from this disease. As long as a child is alive, we can help by supporting and caring for them. Many research studies are ongoing about Canavan disease, treatment, and recovery. With constant medications and therapy, the condition can be prevented without getting worse. Instead of thinking about recovery, with proper guidance and support children can lead to a better quality of life. The pathetic situation of children affected by Canavan can be improved using vaccines and gene therapy.

Canavan Disease Patient Insight Network is a growing online group which helps families to research and learn about the Canavan Disease. They also help in providing adequate treatment. Many neurologists in India diagnose Canavan disease and treats for the same. Normal consultation charges start around Rs 500 and it lies normally in the range of Rs 500-1750. The price of treatment is very high and hardly there are any hospitals in India which provides complete surgery.

The results of the therapy can control the symptoms and ensure a better quality of life. Many of the children don’t reach the adolescence. People with mild symptoms if treated properly can live well till adulthood. There are no permanent results associated with Canavan treatment. A child’s control and quality of life can be improved with various therapies and vaccines.

The alternative and complementary treatment for Canavan disease include music therapy, aquatic therapy, and hippotherapy. The hippotherapy uses horses and their movement to improve the physical functioning. It can enhance a child’s balance, strength, control, and other abilities.