Help me: I am a student researching Fragile X

Fragile X Syndrome
#1

Hello, my name is Eric, I am a student researching Fragile X. I would very much like it if someone could help me out and respond to some questions I have about the connection you have to a specific person with Fragile X. Please respond.

  1. At what age did you realize that he/she had a problem?

  2. What were the symptoms? Side effects?

  3. How was he/she diagnosed? What tests were conducted?

  4. What medications are used to alleviate Fragile X and for what purposes?

  5. Do you have a family history of Fragile X?

  6. How does this disorder affect your life on a daily basis?

  7. What sort of language delays did he/she have?

  8. Since Fragile X is often associated with poor sensory skills are there certain things that he/she has particular trouble doing and are there certain senses that are especially well developed?

  9. Does he recognize that he/she is different?

  10. What sort of schooling does he/she get?

  11. What sort of recreational activities does he/she participate in?

  • Thank you to anyone, in advance, for answering my questions.
#2

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#3

I am not sure to what extent of Fragile X you are researching.

I have an 11yr old daughter with pre-mutation & I have a 9yr old boy who has pre-mutation as he has 57 repeats.

We found out with a genetic blood test. As his mother I knew something was wrong as he never settled well, hardly slept, walked at about 18mths, never ate solids until about 15-16mths as he was also tongue tied. After his little operation he was not able to have clear speech & even now his speech and understanding of the world are also delayed.

We have major anger outburst and we have also been informed that he doesn’t understand body language or even facial expressions.

As I am the only one in the family been tested so I would say yes.

Life can get very frustrating as a simple task of eating breakfast or even general cleaning can become a nightmare. Playing with his siblings is and can be frustrating as he dosen’t understand simple rules. He is also still learning and understanding the concept of sharing. When teased or feel kids giving him a hard time he tends to try and run away. He has no fear or simple concept of dangerous situations, unless it is pointed out to him.

He attends a special school that has about 40 children with about five students to a class. I also have a very good relationship with his teacher.

I am not sure if he understands the concept of being different.

The medication he is on is catapress just to tone him down and the only side affect is it makes him sleepy.

We have noticed that it took us 4yrs to get him in bed and we were told that he needed to know where he starts and finishes. as he slept on floor wherever he was.

He is also a very practical little boy has he watches and knows how some things work. He has a passion for farming and always has. He will also sit and watch machinery at work for hours if you let him.

On a good note when by himself he is a very helpful and pleasant boy who loves one on one time with both mum and dad. He is also very affectionet and caring.