Fragile X Alert

We have recently learned that a condition called fragile X runs in our family.  This information could be very important to our blood relatives. This letter tells you about fragile X so you can decide if you or someone else in the family should be tested.

Why is it important to know about fragile X?

There are several conditions related to fragile X, including fragile X syndrome, fragile X premutation, FXTAS and FXPOI.

• Fragile X syndrome is a common childhood cause of serious problems with thinking, learning, communication and behavior, including intellectual disability and autism.
•  Fragile X premutation is very common, and most people who have it do not know it.
  • If you have the fragile X premutation, there is a higher risk of having a child or grandchild with fragile X syndrome.
  • FXTAS and FXPOI are health conditions that affect some adults with the fragile X premutation.

What problems can fragile X syndrome cause?

• Fragile X syndrome causes serious intellectual disability in children, but girls tend to have milder features than boys
• It causes behavior issues that can be hard to manage
• Fragile X syndrome causes difficulties with communication and autism for some
• It can also cause health effects, such as seizures

What problems can fragile X premutation cause for children?

• During childhood, the fragile X premutation may cause no symptoms at all and presents only a slightly increased chance for mild behavior or learning problems.
• People with the fragile X premutation have a higher risk of having children, grandchildren, or other family members with the premutation or with fragile X syndrome.
  
  

What problems can fragile X premutation cause in adults?

The fragile X premutation can affect the health and well-being of some adults.

• Some men can develop a nervous system condition later in life that effects movement, mood, and thinking. This is called FXTAS.  Some women may also develop milder nervous system effects of FXTAS later in life.
• Some women with the fragile X premutation can have irregular periods, difficulty getting pregnant, and may also experience anxiety or depression. This is called FXPOI.

Is testing available for fragile X premutation and fragile X syndrome? 

• Yes, your doctor can order testing on a small sample of blood or saliva.
•  The test for the premutation is the same as the test for fragile X syndrome.
• To find out about getting tested, share this letter with your doctor.
• If you are pregnant or thinking about getting pregnant, talk with your doctor right away to learn about testing during or before pregnancy.
• If you have a child with learning or behavior problems, be sure to share this letter with your child's doctor.

Where can you get more information?

Learn more about fragile X syndrome and the fragile X premutation from these reliable sources:

• National Fragile X Foundation website: www.fragilex.org 
• Center for Disease Control: Fragile X webpage
• Share this letter with your doctor 

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