Genetic questions


#1

Hi there,

This is my first post!

My stepdaughter (12) has Fragile X, I would assume a full mutation? (I’m trying to get the terminology straight) She tests at the retarded level on standardized IQ tests, low on school standardized testing in math, and sometimes average in reading and spelling(but not comprehension). She exhibits many of the Fragile X physical attributes, hand flapping when she was younger, significant delays in speech, motor, potty-training, social skills… She was formally diagnosed with ADHD-Inattentive in the last month and on meds right now. She was diagnosed with FX when she was about 2 1/2 or so because of delayed development.
She has overcome MANY of her limitations, and right now seems to be tackling the social issues as she gets older(safety issues, appropriateness of conversation etc…)
She has an older brother and younger sister(full blood siblings from my husband and his first wife) and we had them both tested for the Fragile X gene and they both tested within the normal ranges. Does this mean that they are NOT carriers? Or do they still have the chance being a carrier? I would assume that my stepson wouldn’t, as his only X tested normal? I thought we were out of the woods with them, but I’m not so sure. Does anyone have a better grip of the genetics?
All the children live with us and have been for almost the past 5 years. The mother is not involved with the children at all and in fact has been pursuing a Social Security disability claim(she is 36) saying that ‘she has Fragile X too’. She only put the claim in when she got ordered to pay child support, now she is trying to prove she cannot work. Our other question is this, how many of you have a Fragile X relative that is employed, no matter how prevalent the mutation is? My step daughter’s mother graduated from high school and went to college and was very self sufficient for a number of years. She doesn’t drive and does exhibit some characteristics of FX, poor eye contact and odd social skills, but has been able to live independently.

Any advice would be much appreciated!

Also, we applied for Social Security for my stepdaughter when she came to live with us and MY income had to be included as household income, even though I’m not the biological parent, which made us not qualify for SS. Does this seem right? My husband’s ex-wife used to receive about $600 a month from SS for my step daughter when she lived with her(she was on AFDC etc and received child support from my husband faithfully…we have a feeling she duped the system and continues to…)


#2

Hi Lunacopia,

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,
Janine


#3

I have two children with pre-mutation and i was wondering what behaviour strategies do you use as my daughter who has just turned 11 has some problems with her schoolwork and my 8yr old boy is attending a special school since easter. As I also have the pre-mutation and I find it very difficult in knowing what to do when my boys throws tantrams most of the time and takes about 15-20 minutes to calm down and to find the triggers are very hard. Sometimes there is no trigger and he just blows up. My daughter gets very emotional and sometimes it is over the most silliest of things that her father finds it hard to deal with her emotions. I would be very happy to get in contact with anyone who can help me.


#4

My son was about 4 when we decided to get to get him tested on somebodies suggestion as he was not developing the way he should have and the doctors ignored everything that I said and I argued with them for 2 yrs and it took a child health nurse to pick that there was something wrong. But I did’t claim for carers allowance for a while cause I didn’t think I was entitled to it.

But I believe if you take in a step child you should be entitled the same amount as the mother would get due to the fact that her needs don’t change only the address unless her father applies for it as he is her dad.> Date: Sat, 16 Jun 2007 00:44:41 -0400> To: Brenrose27@hotmail.com> From: fragilex-cpt4421@lists.careplace.com> Subject: [fragilex] Genetic questions…> >


#5

Hi Brenrose,

I totally agree you with you, that if a child lives with you, then you should be entitled to all the support benefits… but unfortunately the world isn’t fair. I got off welfare street 12 years ago. I found it insulting and offensive for a government department to judge my lifestyle and ask intrusive questions about my income and expenditure and then justify everything that I replied to. However doing that was a really tough road, and I couldn’t have done it without the support of my parents and my extended family.

Behaviour problems with children - there is a melting pot of difficulties that they exhibit and I don’t think one size fits all. Most Fragile X children like things done in a set way and can be particular about the ways things are done. This fits with the behaviours that are described as ‘autistic traits’. At times they can be fixed on a topic or subject or item. Trying to shift them can become more than problematic and create all sorts of issues and difficulties, especially if in public. For instance, I know that my boys don’t like being in big crowds. Geoffrey gets overstimulated and crowded in, and he is very much a boy who likes to know what is going to happen and likes a generous personal space. Peter, however gets overstimulated with his ADHD and then wants to participate in the decision making about where or what to do next. He struggles with being reigned in, and doesn’t understand that we do this for his own safety.

Both my boys attended special school, and I have never regretted my decision to send them there. It was my belief that the education offered in that setting suited my boys, and suited the intellectual level at which they function. They now attend post school training, which continues with the educational program they recieved in the special school and they are attemting to consolodate what they have already learnt. Hopefully in the future, positions will open up that will allow them to work in sheltered workshops near our home.

It is difficult to answer your questions without knowing the details. I would counsel seeing someone who is experienced in dealing with adverse behaviour. I read your profile and you wrote a statement that would lead me to suggest professional child and youth mental health support. Outside of that, I would suggest generalist welfare agencies can offer support with behaviour difficulties or the disabililty service in your state or country, and failing that and if you can afford it, private counselling. I know that some of these suggestions are very confronting, but they will be the best placed people to give you the help and support that you need, and if you don’t fit their criteria, certainly put you in the right direction.

I hope this helps,
Janine.


#6

I already seek the things that you suggested in the letter but it is the waiting time that is a problem for me cause when he is having one of his outburst he Talks nothing of killing himself and hurting himself. The people I am invovled in don’t really see him in action and that is what I want them to do as that is the only way they will understand what we go through. The school says he is a very pleasant boy and he is very affectionate it is just the tamtrums and the lack of understanding and the limited speech.> Date: Wed, 20 Jun 2007 05:31:03 -0400> To: Brenrose27@hotmail.com> From: fragilex-cpt4421@lists.careplace.com> Subject: Re: [fragilex] Genetic questions…> >


#7

Wow, thank you all for all your advice and stories! It’s good to have found this board…

Sticker charts and any kind of visual ‘reward’ have always worked with our daughter, even presently. It is something she is proud of, especially at the end of the week/month when she can bring home a full sticker chart to show off. It makes how she behaves more concrete to her because she can see it. Her teachers have also used a ‘Prize Box’ at the end of the week as incentive for whatever the job/skill might be; effort in reading/math work, appropriate behavior, having her agenda signed every night etc… Every teacher is different and uses these tools as they need to, but the basic concepts hold true no matter what the desired outcome is. Maybe that helps? My stepdaughter also had some outbursts/tantrums when she was little, but that was more from her being in control and my husband and his ex doing whatever she wanted so she wouldn’t have a tantrum…not so great. She thrives more with gentle boundries/structure, the sdults being in charge…

I definitely will have our pediatrician look through my kids’ tests to answer my genetic testing more fully…

We have a Volunteer Lawyer program in Rhode Island(USA) that might be able to help with the Social Security issue, maybe I can pursue that. I know that when my stepdaughter got diagnosed with FX, my husband’s check got a RETROACTIVE check that she went crazy with(it was Christmas…) She even kept a couple of those checks after my stepdaughter came to live with us, and we made SURE the courts knew she wasn’t living with the thieving mother anymore, or she would have kept collecting the checks!!! Nice, huh??? We’ve since bought a house, so I don’t think we’d qualify, but who knows??