Hello, my name is Elise Heimburger, and my little brother was diganosed with Fregile X syndrome disease when he was a small child. Ever since then I have been working to help fight this disease, but it is hard when you don't have any money to do that. So, this organization raises money to help find a cure for the disease Fragile X. So, with your money hopefully we will be on our way to finding a cure!

Money raised so far-  $5,000,000

Money needed to raise- $45,000,000 or more

What is Fragile X Syndrome?

Many people have never heard of the disease Fragile X, but for my little brother, this syndrome has changed his life in ways. In the early 1990s, a gene was discovered that cause the syndrome. When people have this disorder, a mutation shuts the gene down and the gene can’t make the protein that it usually makes. This disorder is obviously the most common genetic disease in people, 1 in 4000 males and 1 in 6000 females has Fragile X.

How can it be passed on?

Well, Fragile X is a disorder that is inherited. All carrier men pass the disorder to all of their daughters, but none of their sons will inherit the mutation. When a carrier woman has children, the child will have a 50% chance of receiving the mutation. But the Fragile X mutation can be carried down through generations, without knowing, before a child is found who has the disorder.

What causes Fragile X Syndrome?

In our bodies, we have a gene called the FMR1 gene which is located on the “Long arm” of the X chromosome. In the beginning of this gene, there is a section of DNA which differs in size from person to person. Usually, this section of DNA is a length that is considered normal, but in some humans, this span of DNA is longer and this change is called a permutation. A person may have the permutation, but not have the symptoms of Fragile X all the time.

The DNA mutation is more likely to be passed from a woman to her child. When the span of CAN grows past a certain size, the gene is turned off and can’t make the protein that it would usually make. When this happens, is it no longer called a permutation but a full mutation.

When this disorder is passed onto a male, he will display the syndrome because his only X chromosome has the altered  gene. But when this disorder is passed onto a female, she will not be affected as severely because each cell of her body need to use only one of its X chromosomes and randomly calms the other.

·         Academic impairment, ranging from learning disabilities to mental retardation

·         attention deficit (ADD) and hyperactivity

·         anxiety and unstable mood

·         autistic behaviors

·         long face, large ears, flat feet

·         hyperextensible (having the capacity to be hyperextended or stretched to a greater than normal degree) joints, especially fingers

·         Seizures (epilepsy) affect about 25% who have Fragile X

Boys who have the disorder are usually more influenced by the disorder than girls. Most boys who have Fragile X have mental retardation, only 1/3 to 1/2 of girls have major academic impairment. The rest of the girls have either normal IQ or slight learning disabilities. For girls, math is a harder subject for them to grasp. Emotional and behavioral complications are frequent in both sexes. Usually 1/5 of the boys with Fragile X, have autism, and most boys and some girls have symptoms of autism, but many of the children are very social and are fascinated by other people.

How can I get tested?

In 1992, a DNA for Fragile X was created. This blood test is precise and can identify both carriers and entirely-affected individuals. If you go to your doctor, the test can be ordered and is then sent to a lab that offers the test. Because Fragile X can be subtle and because it is so common, Fragile X testing is advised for any person with unexplained developmental delay or mental retardation. Most main U.S. medical offices offer the Fragile X test. It may cost several hundred dollars, but it may be paid for by your health insurance.

Are there any cures or treatments?

Currently there is no cure for Fragile X, although appropriate education and medications can help maximize the potential of each child. However, most boys and many girls remain significantly affected throughout their lives. The cost to society for treatment, special education, and lost income is staggering. The need for research aimed at treatment is urgent.