Can you help my son?

(TRANSLATOR)
ABOUT DISEASE:
Ceroidolipofuscynoza (also known as Batten disease) is a metabolic disease that attacks nerve cells in the body. Normally be classified as storage diseases. Ceroidolipofuscynozy constitute a heterogeneous group of inherited neurodegenerative diseases, whose common feature is the presence of characteristic intracellular deposits. Although they accumulate in the cells of most tissues of the body, symptoms relate almost exclusively to the central nervous system. This disease is very diverse when it comes to the problems that causes. It is very important that parents of newly diagnosed children to remember about this diversity. There are many possible symptoms, but that does not mean that your child will have all of them or they will be very severe.

What causes disease?

Ceroidolipofuscynoza is due to the lack of a certain enzyme, which allows harmful product (ceroidolipofuscyzynie) accumulate in the cells of the body. Ceroidolipofuscyzyna is deposited in the parent level in the nervous system, specifically in neurons. Brain cells are inherently more compact in structure and have very little space for the growth of any by-products. Since waste are deposited in a specific area of ​​the brain is growing tends to lead to compression and possible damage to, destruction of healthy brain cells. Infants and young children have few symptoms, but they grow with age in the progression of cell damage. One of the first symptoms usually appear to be overactive and restless behavior of the child. Children are interested in literally everything. Many kids love to bite my hands, clothes, everything what you can put into the mouth. This disease is manifested as rapidly progressive visual impairment, degeneration of the retina pigmentosa, intellectual regression, a history of seizures. Neuronal degeneration caused by the accumulation of lipofuscin and an abnormal gait (the uncertainty in the standing position, during walking, difficulty in jumping).

Are there other varieties of the disease?

Ceroidolipofuscynoza may be due to the inactivity of one of the two enzymes and, depending on which enzyme is missing There are two subtypes of the disease: variant Ceroidolipofuscynoza babies and children - missing enzyme tioesteraza palmitic - Protein.
Ceroidolipofuscynoza p?źnoniemowlęca - tr?jpeptydopeptydaza missing enzyme, depending on age of clinical onset of disease can be identified as one of the above ceroidolipofuscynoz. Characters p?źnoniemowlęcą and youthful, which occur most frequently, are also among the most important causes of progressive degeneration of the nervous system in children.

How Ceroidolipofuscynozę inherited?

The genes inherited from our parents, have an influence on how tall we are, we have the color of the eyes and skin. Some of the genes that we inherit are recessive, which means that the gene, but it has no impact on our development. Ceroidolipofuscynoza is caused by a recessive gene. Whereas Wwhere adult who has the abnormal gene has a partner who also carries the same gene, then their children in case there is a risk of 1 to 4, that a child receives two recessive genes, and then it will suffer from the disease. The probability that a sibling of a sick child may be a carrier of the disease is 2 to 3 It is possible to verify this, but the disease is so rare that there is little likelihood of meeting a partner who will also be a carrier, provided that the partner will not be a member of the immediate family. All families with children suffering from this disease should seek help and advice from their doctors or specialists in genetics prior to scheduling the next pregnancy.

Treatment

At present, in addition to treating symptoms is no other treatment Ceroidolipofuscynozy. The good news is that a large group of doctors conducting research that may lead to treatment options.

About our son:
http://chorobajanskyego-bielschowskyego.blogspot.com/

Thank you for help and good heart,
Parents with Jacob