Tay Sachs Disease – online facts and information

Filed under: Tay Sachs Disease  -    Pinned  | Spread the word !

[Facebook] [Twitter]

Known as the frightening and extremely rare genetic disease that literally destroys your whole nervous system, Tay Sachs Disease typically shows up due to the enzyme beta-hexosaminidase A is absent in the body. Any person afflicted by Tay Sachs Disease experience a malfunction of their brain cells because the body accumulates fatty compounds in the brain cells and in the tissues. The mental capacity and overall growth of the patient is the area that is mostly affected.

Something else you need to know is that Individuals suffering from this debilitating disease eventually become deaf and blind. What’s more, patients experience face muscle atrophy that will in time cause paralysis. Because Tay Sachs Disease is a genetic disorder, it can only be inherited from either their our mother or father. This genetic disorder impacts a child from the moment they are born. Symptoms can lie dormant for up to seven months. You may notice muscle twitches during that period. From birth until around a year old, babies tend to suffer a break down in motor skills.

As time passes, Tay Sachs Disease becomes more and more intense resulting in vision and hearing loss. There is no known cure or effective treatments for Tay Sachs Disease. The only course of action to try and make the patient as comfortable as possible by minimizing the symptoms with prescription medicine. Certain meds are able to greatly reduce pain and cut down on muscle twitching. Family support is critical for individuals entering into the late stages of the disease. Getting genetic counseling is highly recommended for Tay-Sachs patients who are planning to get married or considering becoming parent.

1 Star2 Stars3 Stars4 Stars5 Stars (7 votes)

Tay-Sachs Disease Prevention

Filed under: Tay Sachs Disease - 18 Jun 2013  | Spread the word !

[Facebook] [Twitter]

Tay-Sachs is a serious condition that can be diagnosed in people of all ages. This disease is a fatal genetic disorder, being most commonly found in children. Specialists claim that a simple blood test would be enough to detect Tay-Sachs disease carriers.

Actually, there are three approaches known to be able to prevent or reduce the risk of developing this disease. They are listed as follows:


Source

Prenatal diagnosis

One of the most efficient ways of identifying carriers is considered to be prenatal genetic testing. Through such testing specialists will be able to find out if a fetus has inherited a defective copy of the gene from both parents. In this point, couples will have to decide if they want to terminate the pregnancy or not. Abortion can raise a lot of debates, but it remains for the future parents to decide if they want the baby to be born.

Most common test recommended for prenatal diagnosis is the Chorionic villus sampling. This test can be taken after the 10th week of pregnancy.

Mate selection

Couples who plan on marring and conceiving a child can get tested before making such decisions. Carries can be found through various screening programs, so individuals likely to conceive a child with Tay-Sachs disease can find out even before choosing a life partner. This may reduce the risk of conceiving an ill baby. Naturally, there are many debates on this aspect, as well.

Preimplantation genetic diagnosis

Testing the embryo before implantation for in vitro fertilization is an option, too. This may be helpful for future moms who want to find out if the baby will be healthy. However, this method can cost a lot.


Source

Screening for Tay-Sachs disease is recommended for anyone who is at risk of being carrier of this condition. Before planning a family, you should have all tests that can show you if your baby will be healthy or not. Prevention is more important than what you may imagine at first. Tay-Sachs disease is a condition that has no treatment, leading to the death of the child before turning 4.

1 Star2 Stars3 Stars4 Stars5 Stars (4 votes)

Frequently Asked Questions About Tay-Sachs Disease

Filed under: Tay Sachs Disease - 22 May 2013  | Spread the word !

[Facebook] [Twitter]

Tay-Sachs disease is a rare neurodegenerative condition. This disease is found in a child after several months of life. One of the most curious facts about Tay-Sachs disease is that initially the baby seems perfectly healthy. However, once the disease shows its first signs, muscle control begins deteriorating and the baby starts experiencing seizures. Paralysis is the next step in the evolution of this disease. Tay-Sachs disease has no treatment, so once a baby develops it there is nothing that can be done to overcome it. The disease has no cure and in most cases children die because of it before turning 4.


Source

1. How common is Tay-Sachs disease?

As already mentioned, this is a rare inherited disorder which progresses to destroy nerve cells. There are various forms of Tay-Sachs disease. The most common one occurs in infancy, at 3 to 6 months. Until that moment, the child seems to be perfectly healthy. The other forms of the condition are even more rarely developed. In such cases, signs and symptoms of the disease appear in childhood or adulthood. They are milder and can vary a lot from one patient to another. Specialists claim that Tay-Sachs disease is most common among eastern and central Europeans.

2. Why is the disease developed?

Specialists claim that Tay-Sachs disease is developed by children who lack a protein that is necessary to dissolve a fatty deposit formed in healthy neurons. The baby, inherits two copies of genes, one from each parent. When both of these are defective genes, they lead to the mutation which causes Tay-Sachs disease. So, mutations in the HEXA gene cause Tay-Sachs disease. The mutated gens carried by both parents show no signs or symptoms of the disease. This is why commonly parents have no idea that their baby may inherit them and consequently develop this deadly disease.

3. Can Tay-Sachs disease be prevented?

The only secure way of preventing Tay-Sachs disease is having both parents tested. In case both parents are diagnosed as carriers, specialists can determine if the baby will inherit a defective gene copy. Testing can be done in the first months of life of the fetus, too. In case the baby has inherited the mutation, parents can choose to have an abortion.

4. What is the treatment for Tay-Sachs disease?

Unfortunately, Tay-Sachs disease has no cure. This means that once a child is diagnosed with it, there is no treatment that can help him overcome Tay-Sachs disease. With the best care, children with infantile Tay-Sachs disease die at the age of 4. However, patients commonly receive therapy which helps them relieve symptoms, but which can also extend life. Still, when it comes to this disease no therapy is able to reverse or delay its evolution process.

5. Is Tay-Sachs disease always fatal?

Infantile Tay-Sachs disease has no cure, leading to the death of the child, before turning 4. Juvenile Tay-Sachs disease is developed in children between 2 and 10 years old. Death usually occurs when the child is 15. Adult Tay-Sachs disease is the only form of this condition which is not fatal. This means that its effects and progression can be stopped. This is the rarest form of the condition.


Source

Tay Sachs disease can also be diagnosed under the name of B variant GM2 gangliosidosis, GM2 gangliosidosis type 1, HexA deficiency, Hexosaminidase A deficiency, Hexosaminidase alpha-subnit deficiency, TSD or Sphingolipidoses. All these names describe the same condition. Even though this disease is commonly developed in childhood, there are situations in which patients are diagnosed with Tay-Sachs disease as adults. The autosomal recessive genetic disorder is formed when both parents are carriers of mutated genes, which are inherited by the child.

1 Star2 Stars3 Stars4 Stars5 Stars (6 votes)

Emily Rapp Writes about Losing Her Son to Tay Sachs Disease

Filed under: Tay Sachs Disease,Tay Sachs Disease Stories - 20 Mar 2013  | Spread the word !

[Facebook] [Twitter]

In January 2011, Emily Rapp was a happy woman. She was a creative writing professor in Santa Fe, published author, happy wife and, most importantly, happy new mother. Her happiness suddenly vanished when she and her husband found themselves in a pediatric ophthalmologist’s office to learn that their son, Ronan, was suffering from an incurable and fatal disease that gradually robs a child of his nervous system – Tay Sachs Disease.


Source

She recalls going to the ophthalmologist with her 9-month-old son because she was worried about his development and was hoping that the eye doctor would rule out vision problems as the culprit. Checking the little boy’s retinas, the doctor saw “cherry-red spots on the backs of his retinas”, as Rapp writes in her new memoir. Ronan’s diagnosis was given that same day – Tay Sachs disease. It is always fatal. There is absolutely no cure. The worst fear of every mother smashed her: Ronan would likely die by the age of 3.

Children with Tay Sachs lack an enzyme in charge of breaking down specific chemicals in the nerve cells of the brain. When these chemicals aren’t removed, they build up, and the children lose their ability to function. Seizures and loss of sight and movement are all common symptoms of the child’s body shutting down.

Emily and her husband did not even need a second opinion. “I knew it was like the worst thing that could possibly happen”, she said.

Three days after Ronan was diagnosed with this terminal illness, Emily started blogging about the experience. Initially, she posted to tell friends and family: “I felt really raw. The writing gave me a shield. It was a way to feel connected to my people without being on the phone all the time”, she said.


Source

However, she gathered a broader audience, which grew beyond her immediate circles. Numerous visitors came to her site after reading “Notes from a Dragon Mom”, the op-ed she wrote about parenting a sick child for The New York Times. All those people stayed by her side, even if just virtually, until the end.

On February 15, just shy of his third birthday, Ronan passed away.

Less than a month after the tragic event, his grieving mother published The Still Point of the Turning World. The book is both a memoir and a meditation on how to grieve for a living child who does not have a future. Her new book is filled with prayers, poems, mythologies and novel excerpts she revisits in search for answers, in the attempt to untangle the wild morass of grief that confronts her.


Source

Emily becomes a “dragon parent”, a term she uses to describe parents of terminal children who “have an underappreciated ability to force people to face their worst fears”. Another term she uses widely in the book is the “blackness” of the tragedy.

Even though the book, just like her short pieces, is bind-bogglingly sad, it is also forceful, inspiring, and filled with lessons for parents. She did not write the book to receive sympathy, though. She even writes: “I’d so much rather have an e-mail that says something brutal and terrible and true than a sympathy card that’s made of soft-to-the-touch parchment, the edges gently serrated, decorated with loathsome, uniform birds…”.

This may also be the reason why the book ends while Ronan is still very much alive. “When I finished the book I felt that the story was done and what I has wanted to say about him was done”, Emily explains. “The rest of the time was just something I had sort of anticipated but didn’t necessarily need to be in the narrative”, she adds.


Source

Rapp, who was born with a congenital birth defect that led to the amputation of one of her legs, says Ronan’s diagnosis really shifted her understanding of luck and what it means to be lucky — or blessed — in life. Emily had previously published a memoir about her life as an amputee and poster child for the March of Dimes, called Poster Child.

As a final note, here is another quote from The Still Point of the Turning World:

Learning how to live with death – that final wilderness from which none of the parents of children with Tay Sachs returns – was also about learning how to live.

1 Star2 Stars3 Stars4 Stars5 Stars (3 votes)

Genetics and Classification of Tay Sachs Disease

Filed under: Tay Sachs Disease - 14 Aug 2012  | Spread the word !

[Facebook] [Twitter]

Tay Sachs is a form of fatal genetic lipid storage disorder where harmful amounts of a fatty substance known as ganglioside GM2 build up in a person’s nerve cells and tissues in their brain. The condition is caused by a lack of sufficient activity on the part of an enzyme known as beta-hexosaminidase A which catalyses the biodegradation of acidic fatty materials such as gangliosides.


Infantile Tay Sachs Brain Damage

Infants with Tay Sachs disease seem to develop as usual during the first few months of their lives. Nevertheless, as their nerve cells become clogged with fatty material, a process of deterioration involving their mental and physical ability happens.

Genetics of Tay Sachs

Tay Sachs is an autosomal recessive genetic disorder. This means that when both parents are carriers there is a 25% risk of giving birth to an affected child with each pregnancy. Thus, the affected child would have received a mutated copy of the gene from each parent. If only one parent passes the defective gene to the child, the child is called a carrier. He or she won’t be sick, but will have potential to pass the disease to his or her own children, as shown in the diagram below.


Source

These genetic mutations have included single base insertions and deletions, splice phase mutations, missense mutations, and other more complex patters. Each of these mutations alters the gene’s protein product, sometimes severely inhibiting its function.

Classification of Tay Sachs Disease

Tay Sachs has been classified into infantile, juvenile and adult forms, depending on the symptoms and when they first appear. Most people with Tay Sachs have the infantile form. Here are the main features of each type of Tay Sachs.

1. Infantile Tay Sachs Disease. Babies with Tay Sachs appear to develop normally for the first six months after birth. As neurons become distended with gangliosides, a relentless deterioration of mental and physical abilities begins. The child becomes blind, deaf, unable to swallow, atrophied, and paralytic.

2. Juvenile Tay Sachs Disease. This form is rarer than other forms of Tay Sachs, and usually is seen in children between two and ten years old. People with Tay Sachs develop cognitive and motor skill deterioration, dysarthria, dysphagia, ataxia and spasticity. They typically die between five and fifteen years old.

3. Adult/Late-Onset Tay Sachs Disease. This is one of the rarest forms of the disease, because its symptoms begin to show at the age of 30 or 40. In contrast to the other forms, late-onset Tay Sachs disease is not fatal as the effects can stop progressing.

Treatment of Tay Sachs


Source

Unfortunately, medical science has not yet come up with a cure for Tay Sachs. Researchers are pursuing a number of approaches of trying to find a cure for the disease. A possible treatment would consists in enzyme replacement therapy to provide the Hex-A that babies with Tay Sachs disease lack. Bone marrow transplantation has been attempted, although it has not been successful to date in either reversing or slowing down the damage done to the nerves.

 

There is no known way of preventing this terrible disorder. Genetic testing can detect if you are a carrier of the gene for this disorder. If you or your partner are from an at-risk population group, it is recommended that you undergo testing before starting a family. Testing the amniotic fluid can diagnose Tay Sachs disease in the womb.

1 Star2 Stars3 Stars4 Stars5 Stars (4 votes)

Most Common Symptoms of Tay Sachs Disease

Filed under: Tay Sachs Disease - 10 Jul 2012  | Spread the word !

[Facebook] [Twitter]

Source Tay Sachs disease is a genetic disorder diagnosed at children. The condition is most commonly developed in infancy and the unfortunate reality is that it will determine the death of the child until the age of four. This means that it can take between three to four years for the disease to evolve so much that it will actually lead to a health damage of such an increased level that death will occur. In other words, the disease determines a progressive degradation of the mental and physical abilities of the child, leading to the premature death of nerve cells. The unfortunate reality about this disease is that it produces the death of the patient, as there are no type of treatments that can turn out being efficient.

The only thing that parents can do is to try and prevent this condition. The disease is caused by a genetic mutation in the HEXA gene, which is actually very rare. The child can inherit the mutation from his parents, this is why couples should be tested when making the important decision of becoming parents. During infancy a series of neurological symptoms can be experienced by patients. However, it is very important to know that during the first six months of life, the child will look perfectly healthy. Around six months after his birth, symptoms will start being felt. A constant deterioration of mental and physical abilities will soon lead to serious health damage. The child will become blind, deaf and also paralytic.

The infantile Tay Sachs disease is the most common type of condition diagnosed nowadays. The juvenile form is a rare one, usually diagnosed in children who are between 2 and 4 years old. This means that children will only experience the first signs of the disease starting with the age of 2. The rarest type of cases are the ones traced when the patient is already 30 or even 40 years old. This is the time when the patient will have the first symptoms of the disease. One of the most important things you should know about the cases in which the disease is diagnosed in these late stages is that its evolution can be stopped. This means that it will not necessarily lead to the death of the patient, as the disease can be overcome.

1 Star2 Stars3 Stars4 Stars5 Stars (3 votes)

First Signs Of Tay Sachs Disease In Infancy

Filed under: Tay Sachs Disease Signs And Symptoms - 16 May 2012  | Spread the word !

[Facebook] [Twitter]

Tay Sachs disease is a genetic disorder that can cause both the mental and the physical deterioration of the patient’s body. The condition is commonly formed during the first six months of life of the child. Most of the times, unfortunately the condition also leads to the death of the baby. One of the most important reasons why this disease is one that will lead to death is linked to the fact that it produces serious damage to the brain and nerve cells. This way premature cell death occurs, resulting in increased body damage.

This condition has first been discovered in 1881, but research in this domain has continued for years. This is how specialists found that the condition can be caused by a genetic mutation. Tests performed on parents ahead of trying to conceive a child are the best way to make sure that the risk of their baby being diagnosed with such a disease will be extremely low. However, there are numerous symptoms associated with this condition in its first stages, including neurological symptoms. Parents should be very careful, as there usually are no visible first signs of the condition forming. In this context it is really important to mention the fact that during the first six months of life of a baby who has the disease, no abnormal developmental signs will be present. This means that infants will appear as evolving normally. As soon as six months, symptoms will most likely be felt. The relentless deterioration of both mental and physical abilities will be felt by the baby. The disease will continue evolving until the age of 4, when death will mostly likely occur. Until that moment the child will already be deaf and paralytic.

The unfortunately reality is that there are no types of treatments known today to be able to cure Tay Sachs disease. This is the main reason why infants are going to die around the age of 4. It takes about four years for the disease to evolve and reach the stage in which physical deterioration achieves such a level that the patient is not able to survive and death occurs. Even though the condition cannot be cured, symptoms can be relieved and this means that the patient can receive the needed support to deal with the disease better. A treatment administrated as soon the first signs of the condition are experienced will also be able to prolong the period of life of a child.

1 Star2 Stars3 Stars4 Stars5 Stars (3 votes)

Prevention Of Tay Sachs Disease

Filed under: Tay Sachs Disease - 12 Apr 2012  | Spread the word !

[Facebook] [Twitter]

Tay Sachs disease is also known as Hexosaminidase A deficiency or GM2 gangliosidosis. Tay Sachs disease is a genetic disorder and causes the deterioration of the mental and physical abilities of the baby when he is about 6 months old. Unfortunately, the Tay Sachs disease leads to death, usually before the child is four years old. The Tay Sachs disease is caused by a defect that the child inherits from its parents. It appears when gangliosides accumulate in the nerve cells of the brain. In present, this disease has no cure. The Tay Sachs disease is a HEXA mutation that is frequently encountered in the Ashkenazi Jewish population, in the French Canadian population of Quebec and in the Cajun population residing in Louisiana.

In order to prevent the Tay Sachs disease there are three important methods used all over the world: prenatal diagnosis, mate selection and preimplantation genetic diagnosis. The prenatal diagnosis of the Tay Sachs disease is the most simple. A test can be done to the pregnant women after the 10th week of pregnancy. Through this, the parents can find out if the baby will suffer of the Tay Sachs disease. They may agree to terminate the pregnancy and in cases like this, the abortion is approved even after the 10 weeks mark. The mate selection is a procedure used in the Orthodox Jewish communities. There is an organization, called Dor Yeshorim that offers couples an anonymous screening program through which the husbands can see if one or another carries a genetic disorder. If the answer is positive, they can avoid pregnancies.

The preimplantation genetic diagnosis is possible if a future mother uses the in vitro fertilization method. Before the IVF procedure, the embryo that is going to be implanted in her womb may be tested. Thanks to this method, only healthy embryos are transferred into a women’s body. The Tay Sachs disease is not the only one avoided through this method, this also prevents cystic fibrosis and sickle cell anemia. Unfortunately, until now, the Tay Sachs disease has no cure, but researchers work in hope to find one.

1 Star2 Stars3 Stars4 Stars5 Stars (5 votes)

Tay Sachs Disease Treatment

Filed under: Tay Sachs Disease - 22 Mar 2012  | Spread the word !

[Facebook] [Twitter]

Tay Sachs disease is a condition commonly formed by babies. The disease is a genetic disorder that affects the mental and physical abilities of a child starting with the age of six months. Tay Sachs disease can lead to the death of a child by the age of four. In most cases, when the Tay Sachs disease is developed by a child, the baby will become blind, deaf and also unable to swallow. The cruel reality is that Tay Sachs is a disease developed due to the inheritance of some defect genes from both parents, so prevention can hardly be done. However, all parents should be tested the moment when they decide to have a child, for specialists to establish is they are genetic carriers.

The unfortunate reality is that there is no type of treatment that can cure Tay Sachs disease. Even if they receive the best medical care and support, children who have been diagnosed with the Tay Sachs disease will die before turning four. Although support and treatment management can be applied to confer support to a patient, the evolution of Tay Sachs disease cannot be decreased or stopped. Unfortunately, no matter the type of treatment administered, the process cannot be reversed. Researchers are still trying to find a cure for Tay Sachs disease and experimental work in this domain will surely continue, although no revolutionary findings have been discovered yet. Patients can however be submitted to some treatments that are aimed to offer them support and reduce the symptoms experienced.

Medication can be prescribed with this purpose, but respiratory care and feeding tubes can also be recommended for children with severe respiratory issues. Physical therapy can help children maintain their ability to move. Family support is also needed to help parents cope with the fact that their child is suffering from Tay Sachs disease. All types of treatments known today can only ease symptoms of Tay Sachs disease, but they cannot delay or reverse the process. This is the main reason why parents should try to prevent the occurrence of the Tay Sachs disease, by being tested before conceiving a child.

1 Star2 Stars3 Stars4 Stars5 Stars (4 votes)

Tay Sachs Disease Symptoms

Filed under: Tay Sachs Disease - 15 Feb 2012  | Spread the word !

[Facebook] [Twitter]

Tay Sachs disease is a genetic disorder that is inherited from one of the parents. The first signs of Tay Sachs disease can emerge right after birth or can be observed after about seven months. Tay Sachs disease manifests through muscular atrophy and twitches, vision and hearing problems. Muscular twitches can also be very painful and the baby can have crisis that affect his life. These crisis that are caused by Tay Sachs disease may emerge anytime. The sad part is that Tay Sachs disease has no cure, but only a treatment that helps patients have less muscular pain and less crisis. Throughout time, as the baby grows up, Tay Sachs disease leads to blindness and deafness. The most severe symptoms of Tay Sachs disease are swallowing inability, paralysis and if the crisis is more severe, the child can even die. This can be caused by the respiratory muscles that paralyse and stop breathing.

It is very difficult to be the parents of a child with Tay Sachs disease, so the best thing is to have the necessary tests to make sure that none of the parents have the gene that causes this disease. Or, in case the mother is already pregnant and the tests show that the baby will suffer from Tay Sachs disease, the pregnancy can be interrupted through an abortion. As there is no cure for Tay Sachs disease yet and there are not known too many things about its causes, a baby that suffers from Tay Sachs disease usually survives until the age of four, so death is imminent. It is a gradually death, very painful both for child and parents.

Under these circumstances, parents should go to a psychologist to help them get over this difficult time in their life and come to accept the idea that their child will be gone some day. It is very difficult to do that and so all parents end up suffering a lot and recovering very hard after the death of their child.

1 Star2 Stars3 Stars4 Stars5 Stars (2 votes)

Dealing With Tay Sachs Disease

Filed under: Tay Sachs Disease - 19 Jan 2012  | Spread the word !

[Facebook] [Twitter]

Tay Sachs disease is a terrible genetic disorder that consists in a relentless deterioration of the mental and physical abilities that shows up around the age of six months and usually results in death by the age of four. Tay Sachs disease can manifest itself under different forms, according to the age of the patient. The infantile Tay Sachs disease appears to develop in the six months after birth. The nerve cells are characterized by a high degree of deterioration, that affects the mental and physical abilities. The child suffering from Tay Sachs disease may become blind, deaf, unable to swallow, experience muscle atrophy and most of the times paralysis, or can develop other complications, that would eventually lead to immediate death.

The Tay Sachs disease is a recessive genetic disorder. This means that in the case when both parents are carriers, thus there is a high risk of giving birth to an affected child. There are cases when the Tay Sachs disease can be passed genetically from the parents to the children, without manifesting a genetic disorder. The development of improved testing methods has allowed neurologists to diagnose Tay Sachs disease with greater precision, by means of prenatal diagnosis.

Parents can undergo genetic examination, in order to determine whether they are the carriers of the Tay Sachs disease genes or not. Moreover, genetic testing can also determine whether the Tay Sachs disease is inherited by the child. Parents may opt for terminating the pregnancy, despite the fact that abortion raises many ethical, social and religious issues. Another way of determining whether the parents and the child are carriers of Tay Sachs disease is the preimplantation genetic diagnosis. The process consists in retrieving the eggs of the mother for in vitro fertilization. The mother can ask for the testing of the eggs to see if the embryo carries the Tay Sachs disease. The healthy eggs are implanted back into the womb. Although there is no cure for the Tay Sachs disease, the doctor can provide you with all the necessary information and advice.

1 Star2 Stars3 Stars4 Stars5 Stars (4 votes)
« Older Entries