We got the blood results!

Hey! Just wanted to drop a quick note and let ya’ll know that we got our daughters blood test results. She is 19 and tested positive for a carrier for Fragile X Syndrome. She’s handled the news fine, and seems more dedicated than ever to raise awareness and find a cure. One of her “x”'s was fine and the other one (the one I gave her) repeated 90 times. We are still waiting on our oldest son (age 21) to be tested, and of course our youngest son is a full mutation… but the LOVE of our lives! :slight_smile:

Have a great week! PennyC

how do you know when it’s a “full mutation”? Is it when it folds more than 200 times? What kind of doctor did you take him to? My son was diagnosed around June. He had just turned 3. I’m confussed because I’ve read that some males haven’t shown symptoms until adulthood.

Homeschooler, yes, a full-mutation is a repeat of 200 or more. Our son’s repeats are over 300, but our daughter is only approx. 90. Meaning, she had one “affected X” and one good “X”, so she didn’t show the classic signs. It wasn’t until we had our son (at age 2) tested, and then the family that we discovered my daughter and I were carriers. She’s 20 now and in Honors classes at a local university, and doing great! She’s studying to be a special ed. elementary teacher, and soon to be married. I’m 41 and had on unaffected child, on carrier and one full mutation. My kids range in age from 22, 21 and 4. We were very blessed in discovering this syndrome, because we were sent first to a genetics dr… who just ran a panel of basic blood test, before we would start any other testing. And fragile X came back positive. Our son is 4, but mentally not quite 3 years old. His delay is very obvious, but he looks like any other typical child (he didn’t get the physical markers of Fragile X). He talks some, but not potty trained yet. He has global delays, sensory issues, leg braces for pronated ankles and will begin testing for Autism in Dec. Let me know if you have any more questions… but, I highly recommend a genetic dr. One look at Jonah and he noticed there was something more going on, that just being “slow”. Thanks, Penny