TAY SACH DISEASE: Ramzan Rana

Ramzan Rana                                                                                                              April 1/2014

TAY SACH DISEASE

Report

The process of how the disease damages the nerve cells

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Tay Sach disease is a very rare disease in today’s society and it is a disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Tay Sach is a disorder that typically appear normal until the age of 3 to 6 months, but after when the kid starts to development the child starts to slow down its growths and the Child's muscles used for movement weaken, and all the working parts of a child slowly stops functioning well anymore and the kids know won’t be able to do a lot of the things that a child does. After the kid starts to get older you can notice more and more that the child has Tay Sach because a lot of things that child won’t be able to do like crawling, sitting, turning over, or stand with holding a chair. These things will be difficult for the child due to the lost of nerve cells and muscle strength and as the kid grows he would face a lot of new challenges and problems that could affect the child enormously like the child won’t have good vision, loss of hearing, and seizures, as the child gets older the problems will get developed to.  Tay Sach is a harmful diseases that could affect a child in a way that could make their life horrible and miserable and Tay Sach is basically, that the kid won’t have the skills that a normal child will at the of 6 months and child with Tay Sach won’t be able to live as long and could die at early stages.

 Tay Sach disease we could talk about this disease all day long, since they are a lot of causes involved why the child would have Tay Sach, can occur when neither of a person’s Hexa genes is working properly because of a mutation. The child could get this if one of the parent has one working copy of the Hexa gene and the other copy has a mutation in it, and the parents that has the one of the gene not functioning the way it’s supposed to that parents is the “carrier”, that means that the child has received his disease from the parents that lacks the hexa. The child could or couldn't have the disease because if both the parents have the disease there’s only 25% chance of the child having the Tay Sach diseases, and the Tay Sach disease has causes on the child and he could receive it from either side of the family.  The kid usually ends up with the Tay Sach disease is because during the process a protein helps break down a chemical found in nerve tissue called gangliosides, without  this the nerve  cells in the brain cannot built up.

This Tay Sach disease is causes by a defective gene in the chromosome 15 and this happens when both parents carry the defective Tay-Sachs gene and defective gene is carried to the chromosome 15 making the child enhance the disease. During this process if only one of the genes has passed through to the child then the child is referred to as a carrier.  Tay Sach is really a issue in some cases because it effects a lot of little innocent life’s because if one kid doesn't receive both of the defective gene, and only ends up getting  one then they become the carrier and there generation in the future can have the disease and this Tay Sach is particularly only found in the chromosome 15.

 Tay Sach is a big issue but not a lot of people understand how big of a disease it is, all the matters is that not allot of kids end up having Tay Sach so it doesn't  really get the same attention as cancer or any other big disease, but this diseases always effect the kids that are young and there’s a lot of symptoms that go along with Tay Sach, there will  be a lot  of symptoms the kid has to face like, Deafness, Decreased eye contact, blindness, weak  muscle  loss of muscle strength. This factors will become a big part because as the kid develops and gets older like 1 year old the other effects will start to come to and there would be more problems know that the child have to face, he/she could be mental and lack social skills, the child could start to have seizures, or stop growing at the age of like 1 year.  So the child starts to lose all the motor skills that it may have and won’t have the same nature a 1 year old will and all the kids with Tay Sach won’t be able to do much. 

Since there so many symptoms to look upon, a lot of small organizations are trying to find a cure, but it’s not happening they can’t seem to figure what’s going on with the body and how can they prevent is there’s are couple small things the doctor talk about to stay fit and healthy for the kids. There’s nothing the doctors can do to except just provide the information and knowledge they have and a lot of the doctors just tell the parents to give their child medication regularly because the medications can reduce the symptoms for a while, prevent a lot of seizures, and they say family support matters the most don’t give up on anything you don’t know what can work. Some of the doctors say that a lot of physiotherapy because that could help with the muscles and make them strengthen up a little. So as we can see there’s a lot for symptoms for Tay Sach but, not too many ways to prevent it.

The video shows what happens to a child with Tay Sach…!!

https://www.youtube.com/watch?v=SeoPF74QSms

The only way we can get the Tay Sach disease diagnosed, is a blood test can be taken to measure the body’s level of hexoaminidase.  A patients with Tay-Sachs lack most or all of this protein whereas levels are reduced and a doctor will also take an eye examination to see if the patient has the classic red spot in the center of the eye’s  to determine if he/she has a Tay Sach disease.

Know if a person has the disease or if they are the carrier. Even though we can easily figure out if a person has Tay Sach, the disease itself is really rare and only 100 kids in America are born in a year with Tay Sach, and most of those kids don’t really end up surviving for a long period of time because all they can do is take medications and treat themselves but, those kids don’t really have the capability to do anything like a normal child their age. A lot of these kids don’t survive for long, since this disease is really rare a lot of people don’t really look into it a lot.

The kids born with Tay Sachs disease have a lot of problems to face and until know no scientists or doctors are able to figure out a cure for the disease, are it because the disease is not that important or just that there’s not interest taken by the scientist . The research has shown that it’s not yet possible for scientist to find a 100% cure for the Tay Sachs and treatment for symptoms is medicine to control seizures and proper nutrition. That’s pretty much it and scientist and small organizations are still looking and trying to come up with a cure, but it’s hard to get a lot of people working on this project since Tay Sachs is a rare disease in the general population and since the genetic mutations that cause this disease are more common in people of eastern and central European. A lot of these cultures would have kids with Tay Sachs.

        

 

                       The kids start to lose control and don’t have a power to stand up or crawl anymore

There are two possible way of doing screening, first one is doing, Carrier testing determine and   whether a person is unaffected and is only carrying one copy of a mutation. The second way is called the parental testing if you want to go back in to your history to find more details about if someone is a carrier.  In parental testing there is usually greater information on of the family history and about the family, and who was the carrier in the beginning.

Tay Sach, since this disease has been discovered the lifespan of the kids having the Tay Sach diseases if not too much someone these kids die at a really young age like some of their kids start to feel the symptoms when they are 6 months old and after that it’s just hard for them to do the normal things that other people are able to do. The ethical issues concerning Tay Sach treatment is good because a lot of small organizations are trying to figure out a way we could really treat the disease and figure out a way to support these really young kids that are facing such huge problems at a small age. These kids don’t even know what happening with them, so Tay Sach has a lot of small organization looking at it and trying to find a way to cure this disease. There are ethical issues like people sometimes thought the disease can only get transmitted by the mother and she’s the carrier every time but, after like right know people know that from both parents anyone of them can be the carrier.

In my opinion, there’s always solution to a disease if not today tomorrow we can be able to find a cure but to finds the cure their lot of more information’s and experiment we have to do to test any possibilities of curing the Tay Sach disease. The disease is a big cause and there’s lack of knowledge on the disease because all scientist and doctors have figured out is medication and therapy. Since, there’s no cure I think that the doctors and scientists have to gain more information and study more on the disease and after that they could determine why the disease plays such a big part. The disease can only be cure if we can study more and try experimenting more on kids rather than just giving medication all the time. There’s a lot to learn more about the disease and one day someone will have the actual 100% cure on the disease.

                          

My character: 

 

What do you think about Tay Sach?
Any suggestions on how we can find way to cure the disease since many kids are dying?
While looking at all the information given above why do you think the scientist and doctors are still unable to find a cure?

List of references:

http://www.genome.gov/10001220

http://ghr.nlm.nih.gov/gene/HEXA

http://ghr.nlm.nih.gov/condition/tay-sachs-disease

http://en.wikipedia.org/wiki/Tay%E2%80%93Sachs_disease

http://www.healthline.com/health/tay-sachs-disease

http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/

Newyork times article: http://www.nytimes.com/health/guides/disease/tay-sachs-disease/overview.html

http://my.clevelandclinic.org/childrens-hospital/health-info/diseases-conditions/neurological-conditions/hic-tay-sachs.aspx

http://www.ntsad.org/index.php/tay-sachs/causes

http://kidshealth.org/parent/medical/genetic/tay_sachs.html

http://www.nhs.uk/conditions/Tay-Sachs-disease/Pages/Introduction.aspx