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 …show more content…
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…
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
Tay-Sachs disease is a form of these lysosomal storage diseases. It is scientifically known as GM2 gangliosidosis: Hexosaminidase alpha-subunit deficiency. Three polypeptides encoded by three separate locations on the chromosome are needed for the catabolism of GM2 gangliosides. When these genes are mutated, the result is a buildup of the glycosphingolipid GM2 gangliosides. Over 50 mutations have been identified. Tay-Sachs disease is the most common form of gangliosidosis and results from a mutation of the alpha-subunit location on chromosome 15. This causes a severe dysfunction in the enzyme hexosaminidase A.
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.
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:
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...
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).
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.
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.
( ). 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.
Gaucher’s Disease is an autosomal metabolic disorder. This means that it is inherited from both parents. For a child to develop the disease both the mother and the father must to carry the necessary gene. If in fact the child inherits the disease he or she will experience problems with the liver, spleen, lungs, bone marrow, and in some cases the brain. The disease is caused by excessive amounts of a fatty substance called glucocerebroside. Glucocerebroside accumulates in the organs when there is a deficiency of the enzyme, glucocerebrosidase. This particular enzyme helps break down glucocerebroside. Therefore, if there is a lack of the enzyme, the lipid begins to accumulate, and results can be fatal.