Tay-Sachs disease is a rare genetic disorder in which an enzyme called hexosaminidase-A is missing. This enzyme is vital in breaking down harmful substances known as lypids. When these lypids build up in the brain they cause brain dammage, and cause death usually by the age of 3 to 5 years of age. Its autozomal recessive so both the wife, and the husband have to be carriers of the Tay-Sachs ghene to have a possibility of having a child affected with Tay-Sachs disease. If both partners are carriers they have a 1-4% chance of having a child affected with Tay-Sachs disease. Tay-Sachs disease is ALWAYS fatal.
When Fred was born genetic tests showed that he had Tay-Sachs disease disease. He died at the age of 3 years.
ECMO stands for Exter-corporeal-membrane-oxygenation. Ecmo is a heart lung bypass used for people who's lungs and/or heart are too sick to work. Its used as a last resourt, and it allows the heart and/or lungs to rest while it circulated and oxygenated the lungs. It is very common in the NICU or Neonatal Intensive Care Unit for preemature and/or severly ill babies. Two catheters called cannulas are placed into arteries, and the blood is taken out of the body, filtered, oxygenated, and returned back to the blood
Smosh was placed on ECMO after his lungs and heart began to shut down.
Gastric Lavage is a procedure done for poisoning. If a person has ingested something toxic, and It could be potentially lethal, than the patient may be given gastric lavage. For this procedure a tube is inserted down into the stomach either via nose or the mouth. After the tube is inserted air is pumped into the stomach ia syringe to make sure the tube is in the correct place. a stethoscope is placed over the stomach, and the Dr. or nurse observes weather the air is heard in the stomach or not. If it is, GREAT, if its not you are going to start questioning weather the tube is in the esophagus, or in the airways even. If its in the airways than the patient will not be able to speak. So, after propper tube placement has been varified than the tube is connected to an even longer tube that goes from the tube in the nose/mouth, to a bag containing water. This bag goes on an IV pole, and is allowed to drain through the tube and into the patient's stomach. At the end of the tube that comes out of the patient's nose/mouth there are two holes. One for the longer tube to go to the bag on the IV pole, and another hole on the same end to go to a bag that is sat on the floor.
The bag on the floor is where that stuff drains back out. Because if it doesn't drain out, than you are just putting water down the tube, and its just going into the patient's stomach. The poison is still in there. So then the tube is drained, and the contents of the drainage bag are then emptied into a hopper which is a giant toilet where the bag or basins can be dumped and washed out.
Another drainage bag is connected to the tube, and the procedure is repeated with bags of water connected, and drained in and out of the patinet's stomach until the contents of the patient's stomach appear clear. It depends on what the patient took, but sometims after this is finished activated charcoal is put down the NG tube. Its put into the tube via a syringe, and mixed with water because it needs some help getting it to go down or it may clump and clog up in the tube. This is where you hope the patient doesn't vomit. If they do, prepare to be covered in a black and VERY gooey mess. EEEK.
fred: I am sick Dr. I took so many pills.
2. Dr: What did you take?
3. Patient: I took a whole bottle of clonidine.
4. Dr: HOLY COW!!!!!!!!!!!!!!!! Someone get a set up in here for gastric Lavage.
5. Patient: What on earth is that?
6. Dr.: Its where I stick a tube in your mouth, and I put water down that tube, and after that, I drain out, and do it again and again. After that i put charcoal down the tube, and let it stay there.
7. Patient: NOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOOO
8. Other nurse: I have the tube ready. Open wide.
High Frequency Oscillatory Ventilator A device used commonly in larger hospitals for people who's lungs cannot take the stress of a conventional ventilator. The High frequency oscillatory Ventilator delivers 600 to 1200 breaths a minute usually to ventilate the person's lungs, at a very fast rate, so instead of huge lung fulls of air 20 to 100 times a minute causing the lungs to open and close the ventilator only delivers tiny breaths, but at a very fast rate so the lungs are ventilated, and nice and oxygenated, BUT they don't have to be put under all that strain. Its commonly used in the Neonatal Intensive Care Unit for preemature or severly sick infants.
Fred was on the HFOV for two days because the other ventilator he was on caused his lungs to collapse from all the pressure they were put under.