Fragile X syndrome (FXS) is a genetic condition that causes intellectual disability, behavioral and learning challenges and various physical characteristics. Though FXS occurs in both genders, males are more frequently affected than females, and generally with greater severity. Life expectancy is not affected in people with FXS because there are usually no life-threatening health concerns associated with the condition.
Fragile X syndrome is the most common cause of inherited mental impairment, ranging from learning disabilities to severe mental retardation including autism or “autistic-like” behavior. Symptoms can include physical characteristics, behavioral deficits, and delays in motor and speech/language development. Approximately 1 in 3,600 males and 1 in 4,000 to 6,000 females have mental impairment due to FXS.
The features in males with FXS are the following:
Behavioral characteristics can include ADD, ADHD, autism and autistic behaviors, social anxiety, hand-biting and/or flapping, poor eye contact, sensory disorders and increased risk for aggression.
The features in females with FXS are the following:
The characteristics seen in males can also be seen in females, though females often have milder intellectual disability and a milder presentation of the syndrome’s behavioral and physical features.
About one-third of females with FXS have a significant intellectual disability.
Others may have moderate or mild learning disabilities, emotional/mental health issues, general anxiety and/or social anxiety.
A small percentage of females who have the full mutation of the FMR1 Gene that causes FXS will have no apparent signs of the condition—intellectual, behavioral or physical. These females are often identified only after another family member has been diagnosed.
Because Fragile X is carried on the X chromosome, which is one of the sex determining chromosomes, female carriers have a 50% risk of having a child, male or female, with the premutation (a carrier) or the full mutation.
A male carrier will pass on the premutation to all of his daughters as they will all inherit his affected X chromosome, but this expansion will remain stable and so none of his daughters will become full mutation.
He can not pass on Fragile X in any form to any of his sons as his male children receive his unaffected Y chromosome.
A male carrier will pass on the premutation to all of his daughters as they will all inherit his affected X chromosome, but this expansion will remain stable and so none of his daughters will become full mutation.
He can not pass on Fragile X in any form to any of his sons as his male children receive his unaffected Y chromosome.
I was tested to see if I was a carrier after Damon was born. We had a referral to do it sooner , but I held out because it was too far away for us. This was while we were in North Dakota. My test came back and I had over 200 cgg repeats. This expanded number of repeats is called a “full mutation” and it causes the FMR1 gene to “turn off” or not work properly. An FMR1 gene that is turned off doesn’t produce enough, or any, of the FMR1 protein that it is designed to produce.
Individuals who have the Fragile X premutation have a higher risk of having children with a larger number of repeats. This is because the larger the number of CGG repeats, the more unstable the FMR1 gene becomes. Thus, there can be a family with no history of Fragile X syndrome in which it suddenly appears in a number of offspring. I ignored this fact because I was stubborn and at first didn't understand. I just wanted to think the doctor was insulting me when in reality , he was helping me. So the more children I try to have , the more at risk I am of this gene becoming more unstable and making the fragile x worse in my kids.
Common traits of carriers may include:
- Social interaction and communication difficulties-ME
- Learning difficulties, particularly mathematics and other abstract concepts-ME
- Attention Deficit Hyperactivity Disorder (ADHD)
- Anxiety including social anxiety-ME
- Depression
- Early menopause called Fragile X Primary Ovarian Insufficiency (FXPOI) in females
- Parkinsons-type disease symptoms in later life called Fragile X Tremor Ataxia Syndrome (FXTAS) in 20% of male carriers and fewer females
- Abnormal periods - ME
- Weight gain-ME
- Mood swings and unexplained irritability-ME
- Thyroid problems-ME
There are a number of ways to build a family for carriers including conceiving naturally and testing the pregnancy (prenatal diagnosis), testing a fertilized egg outside the woman’s body and implanting only unaffected embryos PGD), using an egg donor, adoption and conceiving naturally and not doing any testing. But this stuff can get expensive.
God didn't completely leave me hanging though. I have a beautiful son. He let me carry this beautiful boy and trusts me to raise him and care for him. I have to appreciate and cherish this gift. Although it's possible that I wont have anymore babies , I have Damon. I did get to experience pregnancy and childbirth this once and it's amazing.
We still don't know what this means for Damon. He's only four years old. He has already come a long way! We are just in the beginning of this FXS journey. He is developmentally and mentally delayed and always will be. We just don't know which direction this will take us in his life. He is doing things on his own time in his own way. I think he will prove everyone wrong, it's a strong feeling. He is already so smart and he loves to figure things out and learn. He has his bad days though and it's hard to get through to him.
It concerns me for when he starts school that I'm going ot be putting my trust in these people to work with him and try to understand him. It's not easy sometimes.
Damon lights up everyone's lives. He's happy and playful and he loves being around people. He loves to laugh and play. He loves to watch other kids and learn from them and be a part of their lives if they let him. Being with other kids makes him the happiest. So I'm hoping that when he does go to school , that he's not alone , that he has other kids to play with and learn with. He has such an outgoing and happy spirit and I want to always see it shine through in him.
So , I hope you read this and didn't just scroll on past or roll your eyes. I'm sharing a very important part of our life with you so that maybe you'll now understand FXS and how it affects our lives and why Damon will most likely be our only child. Time will tell.
www.nfxf.com
www.fragilex.org
.png)
.JPG)