Stories of Lives Saved by Cord Blood

<p>The advancements of medicine and technology are saving lives each year that would otherwise be lost to disease or medical disorder. Each year, more and more children are living through potentially terminal diseases and battling their way back to health with help of cord blood. Cord blood is found within the umbilical cord and preserved upon the birth of the child. Since the blood contains stem cells, numerous diseases and disorders are successfully treated and even cured through transplants. Parents today are choosing to either bank cord blood for future use or donate their newborn's cord blood so that ill children can take advantage of this life-saving blood.</p>

<p>An inspiring case is that of siblings Ashley and Kelvin J. of Maryland. These two children were both born with severe combined immunodeficiency syndrome that is usually terminal, since the body's immune system cannot fend off the germs that would otherwise be harmless to a healthy body. Projected life span for children diagnosed with severe combined immunodeficiency syndrome (SCIDS) is approximately six months; however, both Ashley and Kelvin received a transplant of cord blood from anonymous donors whose cord blood was donated to public blood banks.</p>

<p>Another story that shows the success of using cord blood to treat potentially deadly diseases and disorders is that of brothers Blayke and Garrett L. of Los Angeles. Born three years apart, both boys developed a rare disorder known as lymphoproliferative disease. Blayke and Garrett's immune systems were unable to successfully fight off germs commonly found in the world around them. Generally, at a very early age children diagnosed with lymphoproliferative disease develop mononucleosis, a potentially fatal disease that individuals with a working immune system commonly recover from. Again, thanks to the donation of cord blood from an anonymous donor, both boys are now living happy and healthy lives due to a blood transplant. If this option was not available, the young brothers' only hope would be a painful and complicated bone marrow transplant that would not have had the same success rate as the cord blood transplant.</p>

<p>In addition to children using donated cord blood to survive the odds, more and more children are using their own cord blood to treat or cure diseases or medical disorders. These diseases are disorders may be present before birth or be developed after birth, but regardless the case, cord blood is an excellent tool in the fight to preserve life. A recent study at Duke University involved children diagnosed with Krabbe's diseasea rare genetic disorder that affects the brain and attacks cognitive and motor functions. Twenty-five children diagnosed with Krabbe's disease were followed and studied regarding their treatments. For those children treated with a cord blood transplant immediately after birth, 100 percent showed positive development and survival, whereas 43 percent of children treated with cord blood transplant after development of symptoms saw success.</p>

<p>These children are testament to the vitality of umbilical cord blood and should inspire parents to not let this life-saving blood go to waste. According to the informative Web site <b>Should You Bank Cord Blood</b>,upon delivery of the child, technicians must work quickly to ensure they preserve the cord blood before it begins to clot and becomes useless. Whether you choose to store your child's cord blood in a private blood bank or donate your child's cord blood to a public blood bank so that it can potentially save the life of an Ashley, Kelvin, Blayke, or Garrett in the country, ensure that your child's cord blood is used in the best possible manner. More and more, hospitals around the country are developing a system to ensure that all cord blood is either stored or donatedbut not wasted. </p>
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Bluetick Coonhound Dog Breed

<p>Description: The Bluetick Coonhound breed has a broad head with a domed skull. Here we see the muzzle that is square long, deep, broad and has a predominant stop. This breed has round eyes, which are dark brown and widely set.</p><p>This breed has low ears, and these are thin. The tail is high, tapering to a beautiful point. The legs are straight, from the elbow; we see feet that are compact, with well arched toes. The hind legs are long and muscular. Their coats are glossy and smooth, dense and short, feeling slightly coarse to the touch.</p><p>The colours of this breed are dark blue, with thick mottled body, spotted with shapes of black spots on the back, we see this on the back, sides, and ears. The tricolour coat as a speckled blue to look at, its heavy ticking is in point of fact made up of black coloured hairs on a white background, which creates a blueing effect. Ears and head are principally black.</p><p>This breed can come with tan or without tan markings. If they
appear, they should be on the chest, cheeks, and eyes and below the tail. If your dog has tan markings then you should see red ticking on feet and lower legs. Some standards prefer a more blue and black on the dog's body, at all times there needs to be more blue ticking than white.</p>
<p>History: Here we have the state dog of Tennessee. It is said to have come from selective breeding, in Louisiana of the foxhounds, English Coonhound and curs. This breed has a very strong instinct to tree animals, this means scenting out the animal and chasing them literally at the tree. Raccoons live in all states of America, and have been pursued by hunters with the help of the Bluetick Coonhound.</p><p>The dog is expected to find, trail and tree the raccoons. Due to the fact that each dog has its own unique bark, which sounds more like a bay cry, night hunting with these dogs' is often used, as the hunter can follow the sound made by each individual dog.</p><p>Temperament: This breed is very intelligent and is exceptionally devoted to his family. It does well living outdoors, and is a good guardian to the family and home. This dog needs strong leadership, with firm handling, showing the owner as pack leader. Socialising this dog, whilst young, will avoid lots of problems
with strangers and other dogs.</p><p>This dog is a hunter and is fervent about it; there should be no trust in this dog with other non-canine pets. Here we see an extremely alert and active dog, able to work over difficult terrain, and in any weather. This is not a dog to take off the lead, as his natural instincts will take over, and he will be off on the hunt. These dogs are usually best with older children.</p><p>Health issues: This breed is prone to hit dyspepsia, Krabbe disease, and cataracts.</p><p>Grooming: This dog is low maintenance only needing an occasional brushing. Regular attention to the ears is a must, to prevent infection.</p><p>Living conditions: This is not an apartment dog. They will do best in a large garden that is secure and well fenced, this is due to the fact that they catch in the Wind scents and may wish to follow.<br /></p>
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Fatty acid metabolism and its pathways and disorders

<p><strong>What is Fatty acid metabolism</strong>: Fatty acids metabolism is a process of yielding energy from the fatty acids to the living organisms by carrying a set of biochemical reactions. Fatty acids are mostly used for the protein modification process in converting energy from one form to another form. In our body, if the glucose presence is in excess rate then it is stored as fat content in the cells. Each cell membrane consists two fatty acids which are useful for the occurrence of metabolism in the living organisms. Triglyceride is one of the chemical compounds of fatty acids which produce more energy than proteins and carbohydrates.</p> <p>Fatty acid metabolism is carried in two metabolic pathways they are:</p> <p><strong>Fatty acid catabolism</strong>: fatty acid metabolism involves the break down of large fat molecules into smaller units for energy production and for the formation of primary metabolites.<br /> <strong>Fatty acid anabolism</strong>: fatty acids m
etabolism involves in grouping the dietary products and biologically molecules into building blocks of cells and tissues.</p>
<p>Fatty acids are commonly referred to carboxylic acid .Fatty acids are comprised by the group of carbons which can be found in saturated or unsaturated mode. Derivation of fatty acids can be carried by hydrolysis process of ester products like animal fat, vegetable fat and wax.Fatty acids are very useful for the body cells and tissues as a source of energy. All the cells and tissues in the body require large quantities of energy packets (ATP) for performing specific functions and this energy packets are produced by the fatty acids by metabolic pathways.</p> <p>Fatty acids are directly utilized by the skeletal muscle and heart where as brain cannot use fatty acids for fuel, it depends on glucose or ketones. Fatty acid metabolism produces ketones in the liver during low calcium intake or prolonged starvation. Liver is the main site for occurrence of metabolic pathways as it supports many biochemical reactions which are necessary for metabolism.For the fatty acid metabolism pr
ocess liver play a major role in carrying many functions in the body, like decomposition of fatty acids in red blood cells, glycogen storage, ketones production, plasma protein synthesis and detoxification of drugs. Liver adds an alkaline compound for easy digestion process and also releases bile with the support of fatty acids, which we intake through food.Fatty acids easily undergoes acid-base reactions and esterification process for production of energy packets as a fuel source for cells and tissues. Fatty alcohols are produced by the reduction of fatty acid content .These two reactions are common in both types of fatty acids. An additional process is included for unsaturated fatty acids, called as hydrogenation, which is useful in producing margarine from vegetable oil.</p> <p><strong>Fatty acid metabolism disorders</strong>: If there is any defect in the enzymes of the fatty acids then fatty acid metabolism disorder occurs.Cardiovascular disease, genetic disorders, lipi
d storage disorders, inborn disorders, acid lipase disease, krabbe disease and fabry disease arises due to the disorder in fatty acids metabolism.</p>
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How to Get Tax Credits for Hypotonia Disability in Canada?

<p>Hypotonia disability is caused due to many types of diseases. It is a condition that causes low muscle tone making the movement difficult inside a muscle. It generally affects the muscle strength. It also affects the nerve control. Identifying the reasons responsible for hypotonia is quite difficult, but diagnosing hypotonia is quite straightforward. The people suffering from hypotonia are likely to have effect on development. At a later stage, such persons may suffer from muscle weakness. Physical therapy is the best solution for neurologic hypotonia. Hypotonia can be present either from birth or later due to damage to the nervous system in the brain.</p>
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<p>The main reasons for hypotonia include genetic disorders, achondroplasia, Down's syndrome, Krabbe disease, Menkes syndrome, Riley-Day syndrome, Canavan disease, Werdnig-Hoffman disease, Aicardi syndrome, Centronuclear myopathy, Tay-Sachs disease, developmental disability, Trisomy, Prader Willi syndrome, Methylmalonic academia, 22q 13 deletion syndrome, Nonketotic Hyperglycinemia, hypotonic cerebral palsy, dyspraxia, cerebellar ataxia, teratogenesis and dysfunction in sensory integration. Genetic reasons for hypotonia include infections, Encephalitis, Guillian Barre syndrome, sepsis, muscular dystrophy, poliomyelitis, meningitis, metachromatic leukodytrophy, infant barre syndrome, abnormal vaccine reaction, metabolic disorders, autoimmunity disorders, rickets, kernicterus, myasthenia gravis and cerebellar lesions.</p>

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<p>Symptoms of hypotonia include decreased muscle tone, speech difficulties, decreased strength, poor reflexes, rounded shoulder posture, poor attention, leaning on supports, hyperflexible joints and lack of motivation. The hypotonia severity may depend on age factor and the severity of affected muscles. Some people may feel constipated whereas others don't have such problems.</p>
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<p>The hypotonia identified during infant stage is called infantile hypotonia or floppy infant syndrome. Infants suffering hypotonia are generally called sack of jello or rag dolls. Such children are slipped through hands quite often. It will be difficult for them to maintain ligaments. They can't control movement of head. It is called chronic ataxia. It will be difficult to feed such infants. Low tone disability affects motor skills. Children suffering from hypotonia can have developmental delays. All of their movements are delayed. For example, infants may take more time to lift their head from the stomach. They may also face difficulty in crawling, walking, balancing and sitting. They may face difficulty in speaking. It is due to difficulty in adjusting the muscles in the mouth.</p>
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<p>Persons suffering from hypotonia disability can approach Canadian Disability Corporation (CDC) and file for <strong>disability tax credits</strong>. They can seek the help of CDC staff in completing the application form. The professionals at CDC examine your eligibility for tax credits and recommend for <strong>disability tax credits</strong> based on your disability condition.</p>
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<p>Summary</p>
<p>Disability tax credits offered through CDC helps the patients to pay for at least part of the treatment expenses.</p>
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Stem Cell Transplant - How It Can Save Your Life

<P>Stem cell transplant is the new buzzword in medical technology. More and more parents are investing in cord blood stem cell banking as means of securing their kid's future. But do you really need to bank your kid's stem cells? Read on, while we tell you whether it is a good idea or not!</P><P>The main reason why people go for stem cell transplants is because these cells are capable of growing into other types of cell or tissues. This opens up a whole new world of treatments for diseases like Alzheimer's, diabetes and Parkinson's, apart from debilitating blood diseases. So, should you invest in it?</P><P>- Yes, if your family has a history of genetic disease that can be cured. Though your child will benefit the most from it, should he need it, you as a parent can also benefit from it. Research shows that a patient has more chances of success by transplants of stem cells than he does with a bone marrow. You should consider this more seriously under the following conditions:<
/P><P>1. Susceptibility to leukemia- umbilical cord blood cells have been used to treat childhood leukemia for a time now. Fortunately, the treatment of leukemia, even in adults, has drastically improved with stem cell therapy. Stem cell have been revolutionary in the treatment of conditions like thalassemia and Parkinson's disease.</P><P>2. Spinal injuries-Stem cell have also had miraculous results in treating spinal cord injuries. Umbilical stem cell has also been promising in case of a rare genetic disorder called Krabbe disease.</P><P>3. Lymphoproliferative diseases - Cord blood stem cells have been widely acclaimed to be highly effective in treating such diseases.</P><P>- If you are part of a specific community, then yes. Research shows that it is difficult to find cell matches for African Americans, Native Americans or Hispanics. If you need a stem cell match for treatment, you stand more of a chance with your own cells or that of a close relative's. The best part of s
tem cell transplant? You don't even need an exact biological match.</P><P>- Stem cell transplant is also a good idea if you are adopting a baby at birth or do not know a lot about the genetic background of the baby. Since you will not be able to provide genetic support for such a kid, it is better to secure her future by banking the cells.</P><P>- Treatmentsare also no longer confined to your dream. Cell banking facilities across the world have made it possible for you to preserve these precious cells, with the minimum of discomfort and expense.</P><P>- Treatment may begin anytime. You do not have to look for matching donors. Also, you are less susceptible to viral infections.</P><P>With the onslaught of new disease every few days, stem cell banking can be the best gift you provide your child- the gift of life!<BR /></P>
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Stem Cells Extraction from deciduous(baby) teeth

This type of stem cell can be extracted and deposited in stem cell banks. They can be used for:

infarctionmyocardial tissue replacement
treatment of neurodegenerative diseases
treatment of various dental diseases
bone regeneration after fractures and osteoporosis
tooth pulp regeneration and vitalization
<p>Tooth pulp stem cells are frequently used in therapies, for transplantation only to the person who did the harvesting. In the future these stem cells will be used for other people in the same family too. Relatives until grade 4 will benefit.</p>
What are the dental pulp STEM CELLS?
<p>These are cell that can transform and replace other cell types in your body.</p>
<p>Baby teeth pulp contains:</p>
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<p><strong>mesenchymal cells</strong></p>
<p>- These stem cells can be directly implanted in any organ and/or bone to help improving immunity or strength.</p>
<p><strong>odontoblaste cells</strong></p>
<p>- These stem cells forms odonto substance(the component of tooth)<br /><strong><br /></strong><br />The stem cell from dental pulp are non-hematopoietic cells. Using these stem cells with hematopoietic cells the hematopoietic trasnpants are transformed in <strong>best results transplants.</strong></p>
<strong>Treatable diseases:</strong>
<p><br /><strong>Bone Marrow Failure Disorders</strong><br />Amegakaryocytosis<br /><br />Aplastic Anemia (Severe)<br /><br />Blackfan-Diamond Anemia<br /><br />Congenital Cytopenia*</p>
<p>Pure Red Cell Aplasia<br /><br /><br />Congenital Dyserythropoietic Anemia<br /><br />Dyskeratosis Congenita<br /><br />Fanconi Anemia<br /><br />Paroxysmal Nocturnal Hemoglobinuria (PNH)<br /><br /><br /><strong>Sickle Cell Disease</strong><br /><br /><br /><strong>Histiocytic Disorders</strong><br />Familial Erythrophagocytic Lymphohistiocytosis<br /><br />Langerhans' Cell Histiocytosis (Histiocytosis X)</p>

<p>Hemophagocytosis<br /><br /><br /><br /><strong>Inherited Immune System Disorders</strong><br />Chronic Granulomatous Disease<br /><br />Congenital Neutropenia<br /><br />Leukocyte Adhesion Deficiency<br /><br />Severe Combined Immunodeficiencies (SCID) including:<br /><br />Adenosine Deaminase Deficiency*</p>
<p>Reticular Dysgenesis<br /><br /><br />Kostmann Syndrome<br /><br />Omenn Syndrome<br /><br />Purine Nucleoside Phosphorylase Deficiency<br /><br /><br />Wiskott-Aldrich Syndrome<br /><br />X-Linked Lymphoproliferative Disorder<br /><br /><br /><strong>Inherited Metabolic Disorders</strong><br />Adrenoleukodystrophy<br /><br />Fucosidosis<br /><br />Gaucher Disease*<br /><br />Hunter Syndrome (MPS-II)<br /><br />Hurler Syndrome (MPS-IH)<br /><br />Krabbe Disease<br /><br />Lesch-Nyhan Syndrome<br /><br />Mannosidosis*<br /><br />Maroteaux-Lamy Syndrome (MPS-VI)<br /><br />Metachromatic Leukodystrophy<br /><br />Mucolipidosis II (I-cell Disease)*<br /><br />Neuronal Ceroid Lipofuscinosis (Batten Disease)*<br /><br />Niemann-Pick Disease*<br /><br />Sandhoff Disease*<br /><br />Sanfilippo Syndrome (MPS-III)<br /><br />Scheie Syndrome (MPS-IS)<br /><br />Sly Syndrome<br /><br />Tay Sachs*<br /><br />Wolman Disease<br /><br /><br /><strong>Leukemias and Lymphomas</strong><br />
Acute Biphenotypic Leukemia*<br /><br />Acute Lymphocytic Leukemia (ALL)<br /><br />Acute Myelogenous Leukemia (AML)<br /><br />Acute Undifferentiated Leukemia*<br /><br />Adult T Cell Leukemia/Lymphoma<br /><br />Chronic Lymphocytic Leukemia (CLL)<br /><br />Chronic Myelogenous Leukemia (CML)<br /><br />Hodgkin's Lymphoma<br /><br />Juvenile Chronic Myelogenous Leukemia (JCML)<br /><br />Juvenile Myelomonocytic Leukemia (JMML)<br /><br />Myeloid/Natural Killer (NK) Cell Precursor Acute Leukemia<br /><br />Non-Hodgkin's Lymphoma<br /><br />Polymphocytic Leukemia<br /><br /><br /><strong>Myelodysplastic/Myeloproliferative Disorders</strong><br />Acute Myelofibrosis*<br /><br />Agnogenic Myeloid Metaplasia (Myelofibrosis)*<br /><br />Amyloidosis<br /><br />Chronic Myelomonocytic Leukemia (CMML)<br /><br />Essential Thrombocythemia*<br /><br />Polycythemia Vera*<br /><br />Refractory Anemias (RA) including:<br /><br />Refractory Anemia with Excess Blasts (RAEB)<br /><br />Refra
ctory Anemia with Excess Blasts in Transformation (RAEB-T)<br /><br />Refractory Anemia with Ringed Sideroblasts (RARS)<br /><br /><br /><strong>Plasma Cell Disorders</strong><br />Multiple Myeloma<br /><br />Plasma Cell Leukemia<br /><br />Waldenstrom's Macroglobulinemia<br /><br />Other Inherited Disorders<br /><br />Cartilage-Hair Hypoplasia<br /><br />Congenital Erythropoietic Porphyria (Gunther Disease)<br /><br />DiGeorge Syndrome<br /><br />Osteopetrosis<br /><br /><br /><strong>Other Malignancies</strong><br />Brain Tumors**<br /><br />Ewing Sarcoma*<br /><br />Neuroblastoma<br /><br />Ovarian Cancer*<br /><br />Renal Cell Carcinoma*<br /><br />Rhabdomyosarcoma<br /><br />Small Cell Lung Cancer*<br /><br />Testicular Cancer*<br /><br />Thymoma (Thymic Carcinoma)<br /><br /><br /><strong>Other</strong><br />Chronic Active Epstein Barr<br /><br />Evans Syndrome<br /><br />Multiple Sclerosis*<br /><br />Rheumatoid Arthritis*<br /><br />Systemic Lupus Erythematosus*<br /
><br />Thymic Dysplasia<br /><br /><br />* in clinical trials, www.clinicaltrials.gov<br /><br /><br /><strong>Emerging Stem Cell Applications</strong><br /><br />Diabetes<br /><br />Heart Disease<br /><br />Liver Disease<br /><br />Muscular Dystrophy<br /><br />Parkinson's Disease<br /><br />Spinal cord injury<br /><br />Stroke</p>

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Viability of Cord Blood in Treating Malignant Diseases

Having the capability of creating life-forming cells, cord blood has emerged as one of the most extraordinary discoveries in the past 2 decades. The process of cord blood banking is a highly specialized procedure that is taken up after the delivery of the placenta. Numerous positive outcomes have emerged in multiple cord blood cell transplants over the years and this is why medical practitioners are prioritizing the collection of these stem cells. Patients who are suffering from leukemia, liver disorders, heart attacks, some types of blindness, immune system disorders, diabetes, spinal cord damages etc, get relief from their severe conditions after cord blood cells are transplanted to them.
Cord Blood Vs Bone Marrow
Practitioners have made use of the umbilical cord blood collected in several life threatening diseases that had earlier treatment options like drugs and radiation treatments, often a combination of both. Later, bone marrow transplants came as another alternative treatment to medicines, radiation and chemotherapy, though the later are still used in several cases. Painful extraction and application of bone marrow stem cells is one of the major disadvantages of bone marrow transplants. Moreover, the availability of the right donor is an issue most patients and their doctors struggle with. With cord blood in the picture, patients can be their own donors! The nature of the stem cells extracted from cord blood makes it even more valuable.



Stem cells drained from the umbilical cords of babies can develop any type of cells required to cure certain types of diseases and decrease the incidence of graft versus host disease in transplants. One disadvantage, however, is the cord blood quantity, which is undoubtedly less than what patients can get in bone marrow.
Success Stories
Following are some of the case histories of cord blood cell treatments, that reinforce the importance of cord blood collection
Adult Leukemia
Benefits of cord blood preservation in treating childhood leukemia have been evident in the primitive period of its uses. Now treatments of adult leukemia with these cells have shown success as well. A patient, Stephan Sprague was diagnosed with Chronic Myelogenous Leukemia in 1995 and had been treated with chemotherapy for about seventeen years. Later, in April 1997, when he reached the final stage, he considered a clinical trial of cord blood cell treatment. After starting a cord blood cell transplant in November 1997, he went to become cancer free within 9 years.

Spinal Cord Injuries
A team of cord blood cell researchers transplanted stem cells to a thirty seven year old woman who was undergoing a spinal cord injury. Even after being paralyzed for about 19 years, she showed fast recovery. She was injected cord blood cells right at the particular area of injury in her spine. Within three weeks of transplantation, progress was noteworthy. She started walking with a little support and today she claims to walk without any assistance.
Krabbe Disease
Researchers of Duke University and University of North Carolina from Chapel Hill claimed to show outstanding progress in treating this disease with cord blood cells. Researchers state that newborn cord blood cell recipients, with no symptoms of Krabbe disease, have greater possibility of recovery than older babies.
Instances abound of the success of cord blood stem cells in treating various disorders. Cord blood preservation may sound expensive initially, but one cannot deny the potential a single unit of cord blood possesses. There will soon be a day when diseases such as Lymphoproliferative disease, Thalassemia and Fanconi Anemia will no longer be difficult to cure.

Krabbe Disease Causes, Symptoms and Treatment

Krabbe disease is inherited in an autosomal recessive manner. If both parents are carriers, each child has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Each healthy sib of a proband has a 2/3 chance of being a carrier. For genetic counseling purposes, a carrier frequency of one in 150 may be used for the general population. Prenatal diagnosis is possible either by measurement of GALC enzyme activity or by molecular genetic testing if both disease-causing alleles in an affected family member are known. Causes Krabbe disease is caused by mutations in the GALC gene, which causes a deficiency of an enzyme called galactosylceramidase. The buildup of unmetabolized lipids affects the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) and causes severe degeneration of mental and motor skills. As part of a group of disorders known as leukodystrophies, Krabbe disease results from the imperfect growth and development of myelin. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase). The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly. The cause of Krabbe disease is a deficiency in an enzyme called galactocerebrosidase (GALC), which is essential for the maintenance of myelin a fatty substance that insulates your nerve fibers. A child needs to inherit an abnormal gene from each parent to trigger the disorder. Passing on the genes occurs in an inheritance pattern called autosomal recessive. A defect in the GALC gene causes Krabbe disease. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase). The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly. Symptoms The symptoms of Krabbe disease usually begin before the age of 1 year (the infantile form). Initial signs and symptoms typically include irritability, muscle weakness, feeding difficulties, episodes of fever without any sign of infection, stiff posture, and slowed mental and physical development. As the disease progresses, muscles continue to weaken, affecting the infant's ability to move, chew, swallow, and breathe. Affected infants also experience vision loss and seizures. The cause of Krabbe disease is a deficiency in an enzyme called galactocerebrosidase (GALC), which is essential for the maintenance of myelin a fatty substance that insulates your nerve fibers. A child needs to inherit an abnormal gene from each parent to trigger the disorder. Passing on the genes occurs in an inheritance pattern called autosomal recessive. Specifically, Krabbe disease has been linked to a defect in chromosome 14. Treatment There is no cure for Krabb disease. Results of a very small clinical trial of patients with infantile Krabb disease found that children who received umbilical cord blood stem cells from unrelated donors prior to symptom onset developed with little neurological impairment. Results also showed that disease progression stabilized faster in patients who receive cord blood compared to those who receive adult bone marrow. Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Generally, treatment for the disorder is symptomatic and supportive.

What is Krabbe Disease?

<p>Krabb disease is a rare, inherited degenerative disorder of the central and peripheral nervous systems. It is characterized by the presence of globoid cells (cells that have more than one nucleus), the breakdown of the nerves protective myelin coating, and destruction of brain cells. Krabb disease is one of a group of genetic disorders called the leukodystrophies. These disorders impair the growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers, and cause severe degeneration of mental and motor skills. Krabbe disease is part of a group of disorders known as leukodystrophies, which result from the loss of myelin (demyelination). This disorder is also characterized by the abnormal presence of globoid cells, which are globe-shaped cells that usually have more than one nucleus. Krabbe Disease patients show symptoms within the first year of life, there have been cases diagnosed at all ages, through late adulthood. In g
eneral, the earlier the diagnosis, the more rapid the progression of the disease. Those who first show symptoms at ages 2-14 will regress and become severely incapacitated, and generally die 2-7 years following diagnosis. Some patients who have been diagnosed in the adolescent and adult years have symptoms that remain confined to weakness without any intellectual deterioration, while others may become bedridden and deteriorate both mentally and physically. In all individuals with Krabbe disease, galactocerebrosidase (GALC) enzyme activity is deficient in leukocytes isolated from whole heparinized blood or in cultured skin fibroblasts. Carrier testing by measurement of GALC enzyme activity in leukocytes or in cultured skin fibroblasts is unreliable because of the wide range of enzymatic activities observed in carriers and non-carriers. Molecular genetic testing of GALC, the only gene known to be associated with Krabbe disease, may be used for carrier detection in at-risk rel
atives if the disease-causing alleles have been identified in an affected family member. In most cases, Krabbe disease develops in babies before six months of age, although it can occur in older children and in adults. Krabbe disease may be best known in the United States for the media attention it received when former professional football quarterback Jim Kelly raised awareness and research funds for the disorder, which had been diagnosed in his son, Hunter. Krabbe disease is one of a group of genetic conditions called leukodystrophies. Doctors sometimes refer to Krabbe disease as globoid cell leukodystrophy the globoid cells are storage cells that play a role in the disorder. The disease is named after the Danish neurologist who first reported infants with the condition in 1916. If the symptoms suggest Krabbe disease, a blood test can be done to see if the child or adult has GALC deficiency, which would confirm the diagnosis. A lumbar puncture can be done to sample th
e cerebrospinal fluid, which in Krabbe disease has abnormally high levels of protein. The test for GALC deficiency can also be done on an unborn child if the parents carry the defective gene (on chromosome 14). Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, and seizures, feeding difficulties, vomiting, and slowing of mental and motor development. In the first stages of the disease, doctors often mistake the symptoms for those of cerebral palsy. Other symptoms include muscle weakness, spasticity, deafness, optic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also occur. There are also juvenile- and adult-onset cases of Krabbe disease, which have similar symptoms but slower progression.</p>
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Information on Krabbe Disease

Krabbe Disease is also known as Globoid Cell Leukodystrophy. Krabbe disease is one of a group of inherited disorders called the leukodystrophies. Krabbe disease may be best known in the United States for the media attention. Approximately 2 million people in the United States are carriers of the genetic deficiency that causes Krabbe Disease. It is likely that Krabbe disease affects 1 in 100,000 people worldwide, with higher incidences reported in some areas. Krabbe disease is an inherited disorder characterized by a deficiency of the enzyme galactocerebroside beta-galactosidase (galactosylceramidase).The enzyme galactosylceramide beta-galactosidase (GALC) breaks down several important compounds in the body. In Krabbe disease, there isnt adequate GALC available, and substances which should be broken down begin to accrue. The build-up of these substances damages the nerve cells in the central nervous system, destroying many of them and preventing the repair of others
. Krabbe disease can influence muscle tone and movement, and cause vision and hearing loss, among other effects. In most cases, Krabbe disease develops in babies before six months of age, although it can occur in older children and in adults.Krabbe disease is affects both sexes similarly. It is also affects people of all ethnic backgrounds. A higher incidence has been reported in a few remote communities in Israel. Most patients with Krabbe disease have the infantile form. Couples with an affected child with each pregnancy have a 25% chance of an affected child, a 50% chance of a healthy child who is a carrier, and a 25% chance of a healthy child who is not a carrier. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, fevers, limb stiffness, and seizures, feeding difficulties, vomiting, and slowing of mental and motor development.Other symptoms embrace muscle weakness, spasticity, deafness, op
tic atrophy and blindness, paralysis, and difficulty when swallowing. Prolonged weight loss may also happen. There are also juvenile and adult-onset cases of Krabbe disease, which have like symptoms but slower progression. There is no definite treatment for Krabbe disease. Bone marrow transplantation has been shown to benefit mild cases early in the course of the disease. Patients may benefit from physical and occupational therapy. Genetic counseling is suggested for persons with a family history of Krabbe disease who are considering having children.