Saturday, March 12, 2011

Sources

Possibility of Finding Cure

Right now there is no cure for Trisomy 13.  The possibility of finding a cure is not a sure thing, but it is not something that is impossible.  Since there is no way of preventing the disorder scientists don't have much information about it except how it is caused.  Also, because of the rareness of the disorder there are not many studies that can e done.  Only time will tell whether or not a cure is ever found. 

What are some organizations that can provide support?

  • trisomy.org (SOFT)
  • livingwithtrisomy13.org
  • NORD (National Organization for Rare Diorders)
  • GARD (Genetic and Rare Diseases)

What limitations does the person have?

The only limitations of this disease are things that happen within the body.  Usually they have problems with breathing, deafness can occur, child is difficult to feed, they have heart failures, seizures, vision problems, and other problems.  Unfortunately, because of the short life spam there isn’t evidence of things that children with Trisomy 13 would do as youths or adults that they’re limited to.

What is everyday life like?

The daily life of children with Trisomy 13 isn’t what people think.  They are actually pretty normal.  Of course, they have physical disabilities and facial features which people aren’t used to, but they also smile, laugh, think, and have fun.  They are special human beings.  Parents of children with the disorder never think about their child being different.  They only worry about spending meaningful time with their child.  Children with Trisomy 13 have the same personal qualities as everyone else does; only thing is they require extra help.

How can the disaese be treated?

There is no cure for the disorder, only treatment to manage symptoms, for children with feeding problems some special formulas, techniques, and positions can be used.  It all depends on the patient’s individual condition. 

Life Expectancy of Trisomy 13

More than 80% of children with Trisomy 13 die in the first month, there have been a few reports of babies with Trisomy 13 surviving only till their teens, but it is unusual. Of mothers who haven’t given birth, there is a 60% chance that it will be still birth.

What are the physiacl symptons of the disease?

Distinct facial features, low muscle tone, cleft lip, failure to grow and gain weight at expected rate, extra fingers and toes, split in the iris of eye, and sometimes severe mental retardation.  There are other symptoms that affect the person.  Most of the times it is easy to tell whether a child has Trisomy 13 or not.

How is the disease diagnosed?

Doctors diagnose Trisomy 13 as soon as the baby is born, the child may have one single umbilical cord.  Usually it can be detected through an ultrasound.  Often there are also signs of congenital heart disease such as: abnormal place of the heart (toward the right instead of left), the atria of the heart doesn’t close completely, and other critical defects.  MRI or CT scans may show a problem with the structure of brain.  A lot of times it’s holoprosencephaly , the joining together of two sides of the brain.  QF-PCR testing allows a doctor to determine the presence of chromosomal abnormality within 24 hours with a very high accuracy rate. 

Chances of passing down genetic disorder?

Even though Trisomy 13 is not inherited, there is a very slight chance of it happening.  If a woman has never had a child with Trisomy 13 then the risk increases with the woman’s age, it is a age-related risk.  Women who have had an affected pregnancy or child in the past, the risk of having a child with the disease is generally 1%

How revelant is the disease?

Trisomy 13 is a very rare disease; it is only found in 1 of 10,000 newborns worldwide.  In the United States there are a little over 29,000 cases of Trisomy 13.  

Abnormality of Trisomy 13

The abnormality of Trisomy 13 is very simple.  People who are not affected have the normal two copies of the 13th chromosome.  Those who have the disorder have an extra third copy of the chromosome which causes all the defects.    

How does a person inherit this genetic disorder? Dominat or Recessive? Genetic or Chrmosomal?

Trisomy 13 is a chromosomal disorder, it is caused by the presence of an extra copy of chromosome 13 in each cell of a persons body which is the result of a random non-disjunction event in egg or sperm; usually there are 2 copies.  Non-disjunction- separation of chromosomes fail in cell division, resulting in a sperm or egg cell having an extra (47) or missing (45) chromosome. It can also be inherited by a parent in chromosomal translocation, but it is very rare. An unaffected person can carry a rearrangement of genetic material between chromosome 13 and another chromosome. There are no signs of Trisomy 13 but have an increased risk of having children with it. 

What is a Genetic Counselor?

A genetic counselor is a health professional who is trained to help families understand genetic disorders and to provide information and support to them.  Sometimes they become patient advocates when they refer families to services that may be helpful.  Of course, educational qualifications are required to be a genetic counselor.  You must have a specific curriculum of education, which then leads to a course of certification; this will allow you to receive your degree of Certified Generic Counselors or CGSs.  It is necessary for the counselor to have good communication skills and a kind, soft personality.  When a counselor has a relationship with a patient, there are some things that always happen.  He/She will record the medical history of your family and be aware of certain illnesses that can take place because of the disorder.  They will also arrange test to be conducted on the patient and their family that show the exact physical conditions and other risks in the future.