Tay Sachs disease is an autosomal recessive genetic disorder that features with progressive worsening of both physical and mental abilities. The problem lies in a single gene which is transmitted from parents onto the child. The child suffering from this condition lives only a few years. During this time the child loses eyesight, hearing and there is complete deterioration of the organs and mental abilities. This makes it obvious enough that the disease is incurable and there is no definitive therapy which can efficiently fight the disease. Hopefully one day the gene therapy will be able to help all those suffering from this dreadful disease. The diagnosis is set after the thorough physical examination and gene examination.
Treatment Options for Tay Sachs disease
The goal of the therapy is to support both the sick child and his/ her parents. The only option is prevention especially in those people who are at higher risk of transmitting the disease onto their unborn child.Problems with BreathingChildren with Tay Sachs disease are prone to mucus accumulation in their lungs. One method that is efficient in removal of the excessive mucus is chest physiotherapy. The parents are taught how to help their child to eliminate the extra mucus from the lungs at home. These children are more prone to respiratory infections than general population. This requires frequent therapy with antibiotics.
Aspiration of the food and fluids is also common in these patients. Aspiration leads to consequent pneumonia. Still there are some devices that can help in prevention of aspiration. Nasogastric tube is placed through the nose and leads straight to the stomach. The special nutritive formula is then given via the tube. This way the possible aspiration is avoided. Percutaneous esophago-gastrotomy tube is feeding device which consists of a tube that is inserted into the stomach and the opening of the tube in attached to the abdomen. This solution is permanent unlike the nasogastric tube which requires frequent change.MedicationsAccording to the additional symptoms patients are prescribed the medication that can reduce the intensity of symptoms.Physical TherapyAs the disease progresses the child becomes less and less movable. Even the joints become stiffer in time. The muscles are prone to contractions and this can be effectively prevented by the physical therapy. The muscle contractions are rather painful and the physical therapy is good in prevention of this possible pain. Support for the FamilyNot only does the child suffer from this horrible disease but the parents are affected as well. They need continuous support to maintain the strength in the battle against this disease. They need to educated, informed, and even trained to help their child.