Krabbe Disease is a mutation of a gene called Galactocerebrosidase (GALC). A child can get this disease from receiving one copy of the defective gene from each parent. Without this gene, newborns can lose minimal to extreme mental function. The recommended treatment for loss of physiological function is umbilical cord blood stem cell transplant. To check if an infant has this disease, there are several standard screening tests that a newborn can take. It is important for parents to screen their children for Krabbe Disease as early as possible. A gene called GALC is at the root of the cause of Krabbe Disease, this gene is an enzyme that is necessary for the production of myelin. The Genetics Home Reference Your Guide to Understanding Genetic …show more content…
The New England Journal of Medicine (2005) states that a Cord Blood Transplant is when the blood from a newborns umbilical cord is taken and given to another infant. Healthy umbilical cord blood is new and has little to none bacteria or diseases that could harm someone. Usually the placenta and umbilical cord is thrown out, but in recent research it is found that the blood from the umbilical cord and placenta can help prevent or slow down Krabbe Disease. According to Escolar, Yelin, & Poe (2006) about 90% of the children that were used in their study for …show more content…
The Mayo Clinic (2014) states that there are many tests that can be run on a baby, such as laboratory, imaging, and genetic testing and nerve conduction studies. These are all tests that can determine if a baby is born with Krabbe Disease. Laboratory and genetic tests take blood and skin samples to see how low GALC enzymes are, the lower the enzymes the more likely the child has Krabbe Disease, but just this test alone will not tell how severe or how far along the disease is. Examples of imaging tests are MRI’s, a 3-D scan, and CT scans, a 2-D scan, these tests can tell how much myelin has been removed from the nerves. A nerve conduction study tells how fast or slow nerve signals are being sent to the brain and other parts of the body, in Krabbe Disease these nerve signals slow down. In conclusion, it is always best to test newborns as soon as possible, the sooner a baby is tested, the higher their chances are of getting help to slow down the process of Krabbe
An exchange transfusion is a procedure that removes your baby 's blood in small amounts and replaces it with donor blood or the yellow-colored liquid part of blood (plasma).
At birth, children with familial dysautonomia are diagnosed by a distinct set of symptoms. (FD Facts) Poor muscle tone and lack of tears are two symptoms that can be detected very early. As they get older they have a hard time maintaining body temperature, they hold their breath for long periods of time and have a delay in speech and walking. The cause of these symptoms is due to a defect IKBKAP gene. Someone with familial dysautonomia has two copies of IKBKAP in each cell, which means a mutation occurred. This mutation disrupts the information in the IKBKAP gene that helps the production of IKAP protein. The IKAP protein is used for brain functions but when the mutation occurs, not enough of the proteins are made for the brain to function properly...
When the children are diagnosed they have a number of symptoms that point towards progeria. When they are born there is no sign that they have progeria. They look like normal babies. They start having the appearance of someone with progeria as they get into their first or second birthday. They start to loose all of their hair, including the eyebrows, their veins start sticking out like an elderly person's would. They have ears that have no ear lobes and that stick out a lot."A broad, mildly concave nasal ridge nose, prominent eyes, thin lips and micrognathia (small jaw) with a vertical midline groove in the chin."(Baek, McKenna, Eriksson, 2013) Their teeth grow slowly...
Tay-sachs disease is perhaps a very dramatic disease because it strikes most keenly at small children and babies. The disease is very rare and fatal. Tay-sachs is a genetic disorder in which harmful amounts of fatty lipids, known as ganglioside GM2, is built up in the nerve cells in the brain. Infants who with Tay-sachs disease, who are not carriers, appear to develop normally for the first few months since their birth, but as the nerve cells become swollen with the fatty material, a severe decline of mental and physical abilities occurs. The child then becomes deaf, blind, and unable to swallow.
Nowadays, there are many alternatives or any other methods to improve the healthcare especially in a transplantation world. There are few choices available for the people today such as the embryonic stem cells, bone marrow stem cells, peripheral blood cell and the most new is the umbilical cord blood. The umbilical cord blood (UCB) defined by Chima and Mamdoo (2011, p. 79) as the blood which taken from the cut umbilical cord attached to the placenta of a newborn baby after a delivery. It been stated (Chima and Mamdoo 2011, p. 79) that the cord derived from the allantois have a rich source of multipotent stem cells, including the CD34+ , CD38- and haematopoietic progenitor cells. This shows that the cord blood could be more potential as the bone marrow cell in the patients with the haematological or non-haematological problems. The first successful umbilical cord transplantation done was in 1989 in a child with a Fanconi’s anemia and since then, the growth or demand for the cord blood increased. As we can see, this contributed to a major reason for the need of umbilical cord blood donation, storage, processing, freezing, and releasing of cord blood to the patient. Thus, establishment of the cord blood bank (CBB) because of the demand increased (Ballen 2010, p. 8). As mentioned by Ballen (2005, p. 3786), the first establishment of cord blood bank was in the early 1990s in New York, Milan, and Dusseldorf. The storage of the cord blood could last for about 15 years (Fadel 2006, p. 1). The point is that there are many ethical and legal issues raised by this CBB that need clarification and justification like the informed consent, ownership and property rights, collection of cord blood, and public CBB vs private CBB.
Gaucher disease is an inherited, chronic, progressive genetic disorder. People diagnosed with Gaucher disease lack an enzyme known as glucocerebrosidase (Bennett, 2013). It is the most common condition within the lysosomal storage order diseases (Chen, 2008). Glucocerebrosidase helps break down glucocerebreside, a fatty substance stored or accumulated inside the lysosome (Enderlin, 2003). This causes the cells to become bloated and is visible under a microscope. It is estimated that about 1 in 40,000 to 60,000 have Gaucher disease or about 10,000 people worldwide (Hughes, 2013). In addition, Gaucher disease has a higher frequency among Jews of Ashkenazi (Eastern European) decent: up to 1 in 450 people.
This genetic disorder is not specific to a certain age, ethnic group, or gender; theref...
This disease is caused by a defective gene and was discovered in the 1930's. Scientists are
Canavan disease (CD) is fatal neurological disorder. CD is progressive disease caused by an inherited genetic abnormality affecting the growth of the myelin sheath, classifying it as an autosomal recessive leukodystrophy. This disease is linked to mutations in the gene which directs the enzyme aspartoacylase (ASPA) allowing a buildup of N-acetylaspartic acid (NAA) in the brain. Deficiency in this activity leads to spongiform degeneration of the white matter (myelin) of the brain. Myelin is essential for the central nervous system (CNS). In patients with CD symptoms vary, but generally include rapidly increasing head circumference, lack of head control, reduced visual responsiveness and abnormal muscle tone such as stiffness or floppiness.
The umbilical cord has a vital role in keeping babies alive in the womb but could help cure a range of diseases and injuries (2010, Weaver). The umbilical cord contains a rich souse of stem cells, which are valuable because they can regenerate and fix human tissue. Some cells also have the ability to turn into different types of cells. Scientist believes with these ‘master’ cells they will be able to treat a wide range of disorders such as cancer, auto-immune diseases and arthritis. Storing the cord blood of new born babies could be a lifesaver to children’s that may become sick in their young age or it may just be a waste of money in the end, with currently only 1 in 41,000 (1% ) Australian mothers have chosen to bank their child’s cord blood.
There are multiple tests and doctors that may help diagnose a patient with Tay-Sachs disease. These test are organized into three groups based on when they are performed, such as preconception, antenatal, and after birth. Before pregnancy, both parents may have blood tests implemented in order to check for a hexosaminidase A deficiency. Such blood test are conducted by doing an enzyme analysis of blood or tissue. If both parents test positive for this deficiency there will be a 25% chance that the child will be affected by Tay-Sachs disease. Two types of antenatal testing may be performed in order to check the fetus for the disease, such as chorionic villus sampling and amniocentesis testing. An acceptable testing period for chorionic villus
Bellenir, Karen. Genetic Disorder Sourcebook: Basic Information about Heritable Diseases and Disorders Such As Down syndrome, PKU, Hemophilia, and Von Willebrand Disease. Detroit: Omnigraphics, 1996.
Klinefelter syndrome, although it can sometimes appear as an extremely uncomfortable and complicated condition, is nevertheless on that can be controlled, and to an extent, managed. This syndrome is relatively easy to diagnose, as the telltale sign that reveals the presence of Klinefelter is having two X chromosomes (ex. XXY), as opposed to a single X chromosome (ex. XY). Overall, this brings a person’s chromosome number to forty-seven, as opposed to the normal forty-six. Under a light microscope, a diagnosis can be made and delivered to the patient extremely quickly.
II. Imagine your little nephew or niece baby was born with a heart defect and required daily transfusions of blood in order to have a chance at survival.
There are three types of this disease. Type 1 is called Adult, this is the most common phenotype, and it typically affects adults and Ashkenazi Jews. Patients with this type usually experience fatigue due to anemia, decreased blood platelets, weakening and pain of the skeleton, lung and kidney impairment and enlargement of the spleen and liver. There are no signs of brain damage with this type. Next, there is type 2, which is called infantile. Infants who are affected by this disorder will experience liver and spleen enlargement by three months of age. Progressive brain damage is severe in this disease as well as seizures and an abnormal gait. Due to the extensiveness and severity of type 2, death typically occurs by age two. Type 3 Gaucher’s disease is characterized as juvenile...