I have just joined this forum as well, and you have raised many questions relating to Fragile X.
My nineteen old son has Fragile X, and then my husband and I fostered a boy four months younger than my son who also has Fragile X. They are both great people and wonderful human beings. It is a wonderful blessing to have them both in our family. My son, Geoffrey has associated autistic traits that sits with his Fragile X disability. I think that his autism is at a level that could be diagnosed as a distinct disorder, but my thoughts have tended towards that this would not necissarily improve or add any benefits for him. Peter, our foster son also has ADHD and has all the associated difficulties. Everything is done at a million miles per hour, and he is appropriately medicated for this. Our biggest problem is making sure we tell the right boy to hurry up and the right one to slow down… you can imagine the debacle we get into when we are tired and not concentrating.
Let me try and address each question as I read them.
Firstly, basic genetics of Fragile X…
Everyone carries the gene that causes Fragile X… It is a repeated sequence of the (I don’t know how to word this) chemicals that make up the gene. Most of the population have a repeat sequence between 5 -55.
As a carrier of Fragile X, this repeat sequence ranges between 55 - 200. In my test, the geneticists said my repeat sequence was counted around 70. This means each child I carry has the potential to either be affected by Fragile X, or become a Fragile X carrier like myself, dependant on if I passed that gene onto my baby. Thankfully, only one of my children recieved the faulty gene. My daughter does not carry the Fragile X gene, so is not at any risk of producing children who may be affected with Fragile X, or be a Fragile X carrier.
As a woman ovulates, the genes separate, thus in each egg, it contains half the genes of the mother. Because the mother has two X’s, one with the Fragile X gene alteration, and one without, she has a fifty/fifty chance of passing that altered gene onto any children she concieves. This then illustrates how my son recieved the Fragile X gene and my daughter didn’t.
People who have Fragile X have a repeat sequence over 200, and can extend into the thousands. At the moment, they are researching the correlation between the number of repeats and the level of intellectual functioning. There is a point when the repeats get over 200, that the repeat sequence does something to the cells, and turns off a protein needed to allow the brain to function normally. This then produces the symptoms of Fragile X.
Because the genetics of Fragile X and the associated intellectual functioning is so complicated, I don’t know that there is any absolute framework in which to view how each person functions based on the testing available at present. I have a repeat seqence of 70 - I am university trained, hold down a full time job, am considered a professional in my vocation and function reasonably well within these parametres. I do however have some anxieties, around holding conversations in large groups or speaking in front of large groups, where I go weak in the knees and I turn to jelly. Being able to recognise this allows me to put in place strategies to manage these anxieties, and within this context, many would argue that this is within ‘normal’ reactions and not a result of being a Fragile X carrier. It is debated in research quite a bit. I also find it confronting to look people in the eye when having a conversation, and feel very uncomfortable unless I know the person well.
Given the test result’s of your step children, I would suggest that you talk with your doctor to clarify your questions. Have you copies of their test results, and what does it say - does that give you the parametres to make reasoned conclusions based on what you already know. Depending on where you live, there will be professionals that will be able to give you reliable information regarding the questions and issues that you raise. Most cities and regional centres will have a genetic clinic, usually housed within the Children’s hospital in the larger cities.
Other professionals you can access are developmental peadiatricians, genetic counsellors and also linking in with your support group that may be established within your state and also country. A usefull source of information in the US is the Fragile X foundation, in the UK, the Fragile X society and if in Australia, there are support groups in NSW, VIC and WA. NZ has their support group established as well. If you ring, you will be able to talk to someone who will be able to direct you to the appropriate professionals near you.
Also it seems as though you have some issues relating to child support regulations that are applied to you. Unfortunately, I also live within a system where new partners incomes are assessed as relevent. It doesn’t seem fair does it… however I think that you need professional legal advice regarding this issue. Do you have a legal aid system where you can access and ask these questions of them? In Australia we use the family support system, it is governed by the family court system but links in with social security. (Again I cannot find the right ‘words’ to use, my kids are now beyond the age where I get support from my ex-husband)
My final comment would be to do some research on the internet regarding your questions, so that you have a broad view of what you need to know and also are better informed when you visit the doctors. As such, they can clear up any misconceptions that you may have. My final statement is get support from a parent support group. Another parent has insights that no professional can give you, unless they have gone through the same experiences and same difficulties as you…
One final piece of wisdom…
Look after yourself…
Let us know how you go…
Hope this helps,