Approximately fifty percent of the people affected by a rare disease are children. Thirty percent of children with rare diseases will not live to see their fifth birthday. Krabbe disease is one of the most life threatening diseases in the world. This disease is a rare and deadly disorder that has to do with the nervous system. The disease usually affects younger children, between the ages six months and two years old. There are many different things that Krabbe disease does to the body.
Krabbe disease is a rare, inherited genetic disease. People with Krabbe disease are not able to create enough of a substance called galactosylceramidase. Krabbe disease is caused by a genetic mutation, the genetic mutation is caused by a shortage of an enzyme
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called galactosylceramidase. This enzyme insufficiency damages the growth and maintenance of myelin. Galactosylceramidase is a hydrolase that removes galactose from galactosylceramide. Galactosylceramidase in humans is encoded by the gene GALC, and mutations in this gene are associated with Krabbe disease. Krabbe disease affects the nervous system, and the cells in the brain lacking myelin protection. Without this protection, cells in the brain will die, and the nerves in the brain and other parts of the body will not work properly. There are three main types or stages of Krabbe disease. The first and most common is Early Infantile Krabbe Disease, which is the most severe form and is often initially misdiagnosed as colic, reflux, food allergy, and sometimes cerebral palsy. This stage of the disease usually progresses very quickly and kills those who have it. Early-onset Krabbe disease occurs in the first months after birth, typically before an infant reaches six months of age. The second type of the disease is Late onset Krabbe disease. This stage of the disease is not as sever as early onset. Late-onset Krabbe disease occurs later in childhood usually between the ages of five to seven years old. The third and final type of this disease is Juvenile onset Krabbe disease, out of the three types of the disease, juvenile onset is the least severe with the symptoms. Those with Juvenile Onset Krabbe disease typically show an initial regression of motor skills at three years of age or later. After the initial decline, the disease progresses slowly, often lasting years. Each of the three types of Krabbe disease have similar and different symptoms. The symptoms of early onset is the changing of muscle tone from floppy to rigid, hearing loss that leads to deafness, failure to thrive, and feeding difficulties. The rest of the symptoms are irritability and sensitivity to loud sounds, severe seizures, unexplained fevers, vision loss that leads to blindness, and vomiting. The symptoms for late onset disease are general irritability, stiffness, decline in motor skills, and loss of previously attained milestones. Additional symptoms are difficulty in feeding, seizures, arching of the back, and jerking of the arms and legs. The only symptoms for juvenile onset are progressive loss of vision, difficulty walking, loss of manual dexterity, and muscle weakness. The main similarity between the three types is that it ends in death. There is currently no way to prevent the disease from taking over the nervous system.
The only thing that the doctors can so as of now, are screening tests before the symptoms appear. If both parents carry the genetic defect that causes Krabbe disease, there is a seventy five percent chance of passing the disease to their child. The seventy five percent risk of passing on the disease cannot be lowered if both parents carry the genetic mutation. There is only one way to prevent the disease entirely and that is by not having children. However, parents can find out if they carry the gene for Krabbe disease through a blood test. If there is a family history of Krabbe disease, prenatal tests can be done to screen the fetus for the condition. Another option is genetic counseling which is recommended for people with a family history of Krabbe disease if they are considering having children. One of the main complications with this disease is that it is life threatening. Since it damages a person’s central nervous system there are many complications. The complications include; blindness, deafness, severe loss of muscle tone, severe mental deterioration, respiratory failure, and death. In the later stages of the disease, children become incapacitated, are confined to their beds and eventually lapse into a vegetative state. Since there is currently no cure for the disease, the treatment options usually are to help with the symptoms. There are medications that the child can take to …show more content…
help make the symptoms more bearable. The most common drug they take is anticonvulsant medication, which helps to stop seizures or control the seizures. There are two things any child with the disease can take to help with muscle problems, muscle relaxer drugs and physical therapy to help slow deterioration of muscles. The last option is for therapy to help older children with common tasks. One of the surgeries that you can have done is a bone marrow transplantation. The best results have been in patients with late onset Krabbe disease but, only before the severe symptoms develop. It has not yet been helpful in infants with early onset disease who already have developed symptoms. A bone marrow transplant is a procedure to replace damaged or destroyed bone marrow with healthy bone marrow stem cells. Another treatment option is a cord blood transfusion. The cord blood transfusion can be done at any stage of this disease but it only works on those who have not developed any symptoms yet. A doctor will transfuse cord blood stem cells into the patient. Umbilical cord blood is blood that remains in the placenta and in the attached umbilical cord after childbirth. Cord blood is collected because it contains stem cells, which can be used to treat genetic disorders. Krabbe disease is very rare disease.
According to the Mayo Clinic, the disease affects about 1 in every 100,000 people in the United States. It occurs most frequently in people of Scandinavian descent. A child has a one in four chance of developing the disorder if both parents have the defective gene. Currently 7,420 people have Krabbe disease around the world. Only 1,236 adults and the remaining 6,184 children have the disease. Children are more common to get Krabbe disease because they are in a larger age group. In the United States the current population is 323,995,528 people. Only 1 out of 100,000 adults and kids get Krabbe disease. In the US there are presently only 3,239 people who have this disease. Only 539 of them are adults, while the 2,700 remaining are children. In Michigan the population is 9,922,576. Out of the population only 99 people have Krabbe disease. Out of the 99 people, only 16 are adults and the remaining 83 are children. Although Krabbe disease is categorized as a rare disorder that only children get, kids are not the only living beings that can get it. Children are more likely to get the disease because it is a disease that kids are born with. The disease is developed inside the child's brain when they are in the womb, three months before birth. There is a shortage of GALC causing the disease to flourish. Adults are also able to get the disease but it is not as likely to happen because it develops as they grow up. Statistics show that adults who
do get Krabbe disease have a life span of two to five years, but they also show that adults only have thirty percent of having it compared to kids. People are not the only living beings to get this disease. Dogs are one of the only reported animals to get Krabbe Disease. The breeds that can get this disease are the Cairn Terrier, West Highland White Terrier, Miniature Poodle, Irish Setter, Bluetick Coonhound, and Australian Kelpie. Clinically affected dogs are often young, 3 - 18 months of age, and present with poor weight gain, progressive behavior changes, blindness, dementia, anorexia, cachexia, urinary incontinence and quadriparesis. These signs are usually present in terminal stages of the disease with death occurring two to six months after onset of clinical signs. Cats can also get a similar disease but it does not have the same symptoms, the only similarity is the genetic makeup. The disease in cats with the same genetic makeup does not end in death. Krabbe disease is a deadly nervous system disorder that affects the body in different ways depending on the age that it occurs. There are many different things that Krabbe disease does to the body. There are three types of this disease, each having its own symptoms, which all lead to death. There are currently no ways to prevent or cure this disease entirely, but there are medications to help keep them comfortable. Statistics show that children are more likely to get Krabbe disease compared to adults. Although they currently have no cure there is hope for finding a cure for the thousands of people who die every day.
Tay-Sachs disease is a rare hereditary disease found mainly in infants but is also found in juveniles and adults. It is caused by the abnormal metabolism of fats and is characterized by mental deterioration, blindness, and paralysis. There is no available treatment for this disease.
Tay-Sachs disease is a rare and fatal genetic disorder that destroys neurons in the brain and spinal cord. The disease appears in three forms, Juvenile Onset, Late Onset (known as LOTS), and the most common form, Infantile (also known as Classic). The differences between the three forms of the disease are related to the age at which the symptoms of the disease begin to form. Tay-Sachs results from a deficiency of the enzyme hexosaminidase A, which plays a vital role in removing a fatty substance, called GM2 gangliosides, from neurons.
Tay-Sachs disease is a neurodegenerative disorder that is known to be genetically inherited. Both children and adults may suffer from this neurological disease, but it is most common in children (Percy, 1999). This disease causes abnormal brain development in individuals who are affected by this disease. This disease is known to get progressively worse, and unfortunately leads to death. Due to the rapid progression of this disease, the life expectancy is no more than five-six years of age due to complications related to the disorder (Percy, 1999).
In the book it says "They can spend a whole lifetime worrying whether they 're carriers, and then we come along and offer them a test. Recessives and X-linked. Look what they 're doing with fragile-X nowadays. And cystic fibrosis. Just imagine the commercial possibilities if you can design and patent a probe for something like Gaucher 's disease...(69)" Recessive traits is the phenotype is seen only a homozygous recessive genotype for the traits of the interest is present. The booked talked about two of three diseases that are most common in the Ashkenazi Jewish population. The first one is Cystic fibrosis which is an inherited life-threatening disorder that effects the lungs and the digestive system. The other one mention in the book that wasn’t mention in class was Gaucher 's disease. Gaucher 's disease is a build up of fatty substances in your organs, usually in you spleen and liver. Which causes them to become bigger affecting their function. The last one that we learned in class was Tay-Sachs disease, which is a rare inherited disorder that destroys nerve cells in the brain and spinal
...rrier. There are available tests you can take to determine the possibility of your children receiving the disease.
Diabetic Ketoacidosis (DKA) is a serious disease with complications that may have fatal results in some cases. DKA is defined as an insulin deficiency that occurs when glucose fails to enter insulin into muscles such as: liver and adipose tissue. When there is an accumulation of ketones, it leads to metabolic acidosis which causes nausea and vomiting, as a result fluid and electrolytes are lost (Gibbs). There are many complications of diabetic ketoacidosis, some of the most prevalent are: Cerebral Edema, Hypoglycemia, and Acute Pancreatitis.
Asperger´s disorder is not a disease, but a developmental brain disorder. It is four times more prevalent in boys than in girls and it shows no racial, ethnic or social boundaries. Family income, lifestyle and educational levels do not affect the chance of Asperger´s disorder's occurrence. According to Hans Asperger:
Cystic fibrosis is one of the most common lethal mutations in humans. The autosomal recessive allele is carried by 1/20 Caucasians, 1/400 couples will have children with the disease, and ¼ children will be afflicted. If untreated, 95% of affected ch ildren will die before age five (Bell, 1996).
There are less than three hundred cases of Hutchinson Gilford Progeria Syndrome in the world.(Asselin, 2014) The possibility of being born with it is obviously extremely small. Even though the possibility is small, the need to know about it and understand it is great. The people impacted by HGPS are merely children. They are innocent children with their lives cut short. All of this happens because of a small change in their genes.
Over some period of time, affected children (patients) experience mental impairment, worsening seizures, and progressive loss of sight and motor skills. Affected patients become totally disabled and eventually die.
Young children are usually concerned about getting the latest toy, plenty of play-time, and making friends. However, 1 in every 8 million children experience rapid aging and are typically concerned with issues such as hair loss, thin skin, stiff joints, and heart disease (Gordon). This rare fatal genetic disease is known as Progeria. In the last couple of decades, professionals have brought increased awareness and knowledge to Progeria and its symptoms, genetic cause, history, research, treatment, and support resources available to affected children and their families.
There is a very limited number in how this disease can be treated. I can be examined under anesthesia, specialized blood tests, CAT scans, and ultrasound (Finger, Pg. 1). Normally, a child would be examined if there were a past history of retinoblastoma from the parents. There would be a slim chance if a child shows up with the disease if the parents had ever had it. Normally, parents are the ones to notice the "white pupil" first (Ambramson, Ch6). The optometrist would recommend an ophthalmologist, who uses anesthesia to analyze the eye. He/she will then dilate the eyes to view the retina in search of tumors or abnormalities and where they are located. Sketches are then drawn or photographs using specialized equipment would be taken. Ultrasound would be used afterwards to determine the thickness and height if a tumor was found. Finally, a CAT scan is used to determine if the tumor is inside the eye or outside of their brain (Ambramson, Ch6). Once this is completed, the process of treatment would begin.
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...
( ). Around three thousand new cases of childhood ALL are reported yearly in the United States (Kanwar, 2013). Out of those diagnosed, white children seemed more often affected than children of other races and males were slightly more affected than females (Kanwar, 2013). The frequency of childhood ALL cases crest at ages 2 to 5 and then decreases as they grow older (Kanwar, 2013). Unfortunately, there are no identifiable causes associated with this cancer.