References

Fragile X Syndrome." NICHD - The Eunice Kennedy Shriver National Institute of Child Health and Human Development Official Home Page. 7 Sept. 2006. National Institute of Child Health and Human Development. 15 Feb. 2009 http://www.nichd.nih.gov/health/topics/fragile_x_syndrome.cfm.


Fragile X Syndrome. Mar. 2005. Medicinenet.com. 22 Feb. 2009 http://www.medicinenet.com/fragile_x_syndrome/article.htm.


Symptoms of Fragile X Syndrome. 25 Feb. 2009. WD. 28 Feb. 2009 http://www.wrongdiagnosis.com/f/fragile_x_syndrome/symptoms.htm.


"Summary of Fragile X Syndrome." 31 Oct. 2008. The National Fragile X Foundation. 19 Feb. 2009 http://www.fragilex.org/html/summary.htm.


"Fragile X Syndrome." 31 Oct. 2006. Penn State Childrens Hospital. 18 Feb. 2009 http://www.hmc.psu.edu/childrens/healthinfo/f/fragilex.htm.

How possible is it that a cure will be found?

Fragile X Syndrome is a genetic disorder that has not been thoroughly researched for a long time. In 1991, the discovery of why Fragile X occurred was found. (To learn more about this discovery read the post titled "How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?"). In light of this, one can see that the disorder is a relatively new discovery. So far, most doctors have prescribed medications to people with Fragile X that treat the symptoms of Fragile X Syndrome. These medications have mixed results. Even with the patients who react well to the medication, they still show significant signs of the disorder. There is a field of study that focuses just on the Fragile X Syndrome. For the most part, this research has been unsuccessful. Although it has not worked so far, there is potential in the research of a cure for Fragile X Syndrome.

What are some organizations that can help a family cope with a child's disorder?

http://www.fragilex.org/html/home.shtml

http://www.fragilex.org/cfxf/

http://www.fraxa.org/default.aspx

http://www.fragile-x.ca/default2.htm

http://www.fragilex.org.uk/default.aspx

http://www.fragilex.org.au/

http://www.livingwithfragilex.com/

What limitations does the person have?

• Most people with Fragile X Syndrome do not get the same job as someone who is healthy.
• Since one symptom of Fragile X Syndrome is mental retardation, they may have trouble functioning in a working environment.
• Another symptom of Fragile X Syndrome is an attention disorder such as ADD. An attention disorder may also affect the persons ability to get a job.
• It has also been reported that people with Fragile X Syndrome may exhibit behavioral problems and social issues which may affect their social life.

What is everyday life like? What is the quality of life?

• The severity of the syndrome varies with each patient.
• Many of the children with the disorder are home schooled so their needs can be better met.
• A person with Fragile X Syndrome has many attention problems and can be distracted easily.
• It is because of this that people with the disorder are cared for differently than other people.
• As adults, people with the disorder usually go to vocational training facilities and live in a supervised setting for the rest of their lives.
• Although a lot of people with the disorder go to vocational training facilities, many people may not have to because the severity of their symptoms may not be as severe as other patients.
• People with less severe symptoms may be able to get a job that is best suitable for their needs.
• Those people with less severe symptoms usually stay at home with their family.
• The quality of life for someone with Fragile X Syndrome may be good or bad depending on the severity of their symptoms.

How can the disease be treated?

• There is no cure for Fragile X Syndrome.
• There are many medications that can reduce the severity of the symptoms of the disorder.
• Most doctors prescribe many different medications to a single patient at different times to see which one works best with that specific patient.
• When the doctor finds a medication that works, they determine what dosage is right for the patient.

What is the life expectancy of someone with the dieease?

People with Fragile X Syndrome live just as long as someone who is not affected.

What are the physical symptoms of the disease?

• Mental retardation
• Enlarged Testes
• Facial abnormalities
• Behavioral problems
• Autism like behavior (flailing of the arms etc.)
• Prominent ears
• Hyperactivity
• Delayed motor development
• Poor sensory skills
• Many people with the syndrome show aggressive behavior later in their life.
• Narrow face
• Prominent jaw
• Frequent ear and sinus infections
• Flat feet
• A heart condition called Mitral valve prolapse is likely to develop.
• A lazy eye
• Nearsightedness

How is the disease diagnosed?

A simple blood analysis can determine if a person has the disorder. Once a scientist gets the blood sample, they can check to see if the FMR-1 gene is functioning properly. If the scientist sees that the FMR-1 gene is no longer producing proteins, they will know that the person has the disorder.

How prevalent is the disease in the population?

• Many researchers believe that 1 in 4,000 males are affected by Fragile X Syndrome and 1 in 8,000 females are affected by the syndrome.
• Although many researchers believe that these statistics are correct, may believe that it is hard to tell how much of the population is affected.
• Many researchers think that 80-90% of the people with the syndrome have not been diagnosed.
• It is because of this that some researchers believe that 1 in 1,000 males are affected and 1 in 2,500 females are affected.

What are the possible genotypes of the parents?

Since the disease is X-linked, it is recessive.

1. If the mother is a carrier (XB Xb) and the father is healthy (XB Y), then there is a 25% chance that they will have a boy who is healthy (XB Y). There is also a 25% chance that there will be a girl who is completely healthy (XB XB). There is also a 25% chance that there will be a girl who is a carrier (XB Xb) and a 25% chance that there will be a boy that completely has the disorder (Xb Y).
2. If the father has the disorder (Xb Y) and the mother is a carrier (XB Xb), then there is a 25% chance that there will be a girl who is a carrier (XB Xb) and a 25% chance that there will be a girl that completely has the disorder (Xb Xb). There is also a 25% chance that there will be a boy who is completely healthy (XB Y), and a 25% chance that the there will be a boy who completely has the disorder (Xb Y).
3. If the father completely has the disorder (Xb Y) and the mother is healthy (XB XB), then there is a 50% chance that there will be a girl who is a carrier (XB Xb), and a 50% chance that there will be a boy who is completely healthy (XB Y).
4. If the father is completely healthy (XB Y), and the mother completely has the the disorder (Xb Xb) then there is a 50% chance that they will have a girl that is a carrier (XB Xb), and a 50% chance that they will have a boy that completely has the disorder (Xb Y).
5. If the father completely has the disorder (Xb Y), and the mother completely has the disorder (Xb Xb) then there is a 50% chance that they will have a girl that completely has the disorder (Xb Xb), and there is a 50% chance that they will have a boy who completely has the disorder (Xb Y).

How does a person inherit this genetic disorder? Is it dominant or recessive? Is it genetic or chromosomal?

Fragile X Syndrome is a mutation located on the FMR-1 gene. This disorder is full blown when the CGG sequence is copied more than 230 times. The sequence CGG codes for Arginine. When a person has between 54 and 230 copies of the CGG sequence they are a carrier and have no symptoms of the disorder. Although carriers have no signs of the disorder, they may pass it on to their children. A female that is a carrier for the disorder there is a 50% chance that her child will have the full syndrome and show signs of the disorder. When a person has more than 230 copies of the CGG sequence, they show signs of the disorder and can pass the disorder on to their children. When there are more than 230 copies of the CGG sequence, the FMR-1 gene is disabled. The FMR-1 gene plays a large roll in the development of the brain, so this is why many people with Fragile X Syndrome suffer from mental retardation or other mental issues. This gene is located on the X Chromosome, so Fragile X Syndrome is a X-linked disorder. Since the disease is X-linked, there are roughly twice as many males with Fragile X Syndrome as females (this includes carriers). This disease is genetic so it is passed on from generation to generation.

What is a Genetic Counselor?

Job Details
Genetic Counselors advise people on the condition of their genetic disorders. If a person with a genetic disorder wants to have a baby, then they should consult a Genetic Counselor about the chances of their kids having the genetic disorder. A parent with a child who has a genetic disorder may go to a Genetic Counselor. The Counselor will tell the parent what the chances are that their child will pass on the disorder to another generation.
Education/Qualifications
Genetic Counselors have an undergraduate degree in a science related field of study. They also have a Masters Degree in Genetic Counseling or some form of counseling.