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fragile x, anyone?

Posted by paigect (My Page) on
Tue, Oct 17, 06 at 18:28

We were at the neurologist today for a first visit due to DS's migraines, and he took one look at DS, noted that his ears are on the large side and stick out a bit, asked if he had learning disabilities (yes), and said he wanted to do a blood test for Fragile X. I kind of blew it off until I got home and researched it and now I'm a bit freaked out. Many of the symptoms seem to fit. I have no idea how long it will take to get test results. Has anyone dealt with this? Could this be the answer to the LD's, social issues, etc. that we've been dealing with forever?


Follow-Up Postings:

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RE: fragile x, anyone?

Paige,
I saw a TV program (20/20 type, in fact, I think it was 20/20) that did a segment on Fragile X....I was stunned...I, immediately, recognized my nephew!
My nephew has ADD... my sister is VERY sensitive about this.
The show was called "The boy who has/had (?) no friends" :(
Anyway, it was, truly, like watching my own nephew. The ears...no one in our family has that shape of ear. This thing he did with his hands...sort of a turning away of the upper body and head while outstretching his arm with the palm side facing out...overly affectionate.. youngish for his age.
I can't remember all the symptoms, but my nephew had all of them. Like you, I had never heard of FX.
I told my mother about it..I never did mention it to my sister...she would have freaked out. We aren't the closest of sisters and she would have resented, very much, the suggestion of this, especially coming from me.
It is a form of mental retardation, although, a very high functioning one....just hearing MR would have sent my sister into a protective and defensive mode, BIGTIME!
He is a very sweet boy and I love him very much, but I have always felt he had something "more" than ADD, but had no idea what.

I'm sorry this post isn't really helpful to you. I do wish you the best with your boy.

Silly


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RE: fragile x, anyone?

Silly, it's really too bad that your sister can't accept hearing something like this from a family member. I am always open to suggestions from others with respect to DS. But some people have a hard time admitting imperfections I guess.

I do want to correct one thing - - according to my research so far, Fragile X does not always have mental retardation as a component. Very often a child has average or higher intelligence, but learning disabilities. This would be the case with DS. He has an above average IQ (108) but is highly dyslexic and a slow processor, along with having executive functioning difficulties and attention issues.

It's amazing how many of the physical symptoms fit DS. Flat-footedness, double-jointedness, ear infections, big ears that stick out (although not mishapen), long face, etc. He has lots of close friends, but I would say he is a bit socially immature and has trouble carrying on a truly age appropriate conversation. It's becoming more apparent the older he gets. And the sensory sensitivity is definitely present. He takes it to the extreme with food - - he hates the way many typical foods smell, look and taste. And he has always had issues with eye contact. I never suspected autism because he is so sociable and has a great sense of humor, but turns out these are also normally present with Fragile X. I just wonder why I never heard of this before.

Thank goodness his symptoms are not too severe. If he does have it, I guess I can be grateful for that.


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RE: fragile x, anyone?

I have a nephew that has some of those symptoms, I'll look into it also...........
I guess the knowledge that comes with this can help guide those children, it's totally new to me, never heard of it.
good luck to you Paige ; it must be hard to deal with all this new found data but it's a step in the right direction to have a clear diagnosis and move forward for the well being of your dear son.


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RE: fragile x, anyone?

Hi Paige.

Has anyone mentioned the possibility of a diagnosis of Asperger's Syndrome with regards to your dear son? The inability to carry on age appropriate conversation (and relate to peers appropriately) and immaturity are symptoms of this disorder (which is sometimes considered a mild/high-functioning type of autism). Those with Aspergers have normal ranges of intellect.

Most boys with FX do not have an above average intellect, their IQ's consistently test well below 95. In person, these children have a noted 'slowness' about them. Please check out fragilex.org for more info.

Here is a link that might be useful: Some info on Aspergers...


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RE: fragile x, anyone?

Hi Mitch and Pauline.

Mitch, the hardest thing about this possible diagnosis (we won't know for a few weeks) is that it would have had to be passed down to him by me. Boys can only inherit it from their moms. :-( But the good thing about it is that it would answer lots of questions.

Pauline, we have considered Aspergers and it has been ruled out. DS had a full neuropsych and she said Aspergers is not a fit for him. I agree with her. The only real symptom he has is lack of eye contact. Otherwise, he is extremely sociable, does not like to be alone, no hand flapping or similar body movements, and, well, no other symptoms that align real well. He's a little socially immature in that when engaged in a conversation, sometimes his jokes are not really funny (more goofy, but not even that funny in that way) and his responses belie his immaturity.

It does appear that I corrected Silly too soon, though. After reading her post I did more research and it seems the majority of boys with Fragile X are in the MR spectrum (as Pauline notes). DS is a very slow processor. He takes a while to process information and therefore comes across as slow sometimes. He's also dyslexic, but he's otherwise normal or above intelligence according to repeated testing. While this could be a match for a girl with Fragile X, it might not be for DS. I do wonder if there is a small percentage of boys with a higher IQ. I guess I will have to wait to get the results.


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RE: fragile x, anyone?

Hi Paige -

We had our son tested for Fragile X since he also has many of the symptoms, but the tests came back negative. So we still don't really know exactly what it is he has... It's a long two weeks to wait, and I'll be thinking of you.

As I'm sure you've found, there are some boys with Fragile X who do not have MR. And since Fragile X is a variable condition, it could be severe, mild, or even borderline with some doctors saying yes, some no, and others on the fence. (Depends on how many 'repeats' of the defective gene or alele, or whatever technical bit -- been a while since I researched it.) Anyway, many boys with it aren't diagnosed until late in life because the symptoms are so vague. And the genetic mutation tends to worsen over the generations, so there's absolutely no reason to blame yourself if it is what he has. In all probability, you would have had no way of knowing and no reason to even suspect before it happened.

I have a theory about some types of mental retardation that I discussed with my son's pediatrician, neurologist and neuropsych, and they all felt it was reasonable. On the chance that it might be helpful, I'll pass it along. Anyway, my theory is that a syndrome that causes MR doesn't so much cause "IQ between 50-70" so much as "30-50 percent decrease in IQ". So, in other words, for a child of very bright parents whose "genetic IQ potential" is, say 140, a 30% decrease caused by a genetic syndrome would result in a child with an average IQ. But he would still have the genetic syndrome, and still have the types of cognitive impairments caused by that syndrome.

If I recall, you're a lawyer, which to my way of thinking, makes you plenty bright. So under my theory, your son could very easily have some sort of syndrome that generally causes retardation, yet not be "technically" MR (IQ below 70). We're in a similar position becuase my son's IQ continues to test slightly above the MR range, but it's very clear to everyone that there is something going on, and it absolutely appears to be genetic in origin. Yet I still have to really push the doctors to look at common causes of MR since my son technically isn't MR. I'm wandering...

Anyway, if a neurologist picked up right away on some clues in your son's appearance and the Fragile X test comes back negative, it might make sense to have some more in-depth genetic testing done. There are subtle clues in a child's appearance that, to the right set of eyes, can be very informative. A trained geneticist can recognize a variety of syndromes as easily as the average American can now recognize Down Syndrome. Yet as parents, we are often blind to these nuances in feature. I know that I can't see what it is about my son's appearance that my friends with special needs kids can easily see...

Well - I don't know if any of this helped or not. Just know that you are not alone, and if you want to talk - either here on the list or privately, I'm available.

Good luck to you both --


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RE: fragile x, anyone?

Hi, Paige~

I don't know anything about FX, but I do empathize with your situation. It is difficult to know what to do when you have a child with any kind of syndrome. I cannot decide what to do about my dd - do I take her for an official diagnosis? Do I leave her alone, since she is doing extremely well? Will I need a documented syndrome should additional assistance be necessary in the future?

My 6-year-old has been in special ed since before she was 3. She was originally thought to be autistic, but that did not prove to be the case. She has *something,* or perhaps I should say an amalgam of somethings, that at the present time is still undetermined. She has qualities of this and qualities of that, but does not seem to truly fit any one syndrome. She may have Asperger's, but we've not gone for an official diagnosis. She is extremely high functioning and if you did not know her background, you would be surprised to learn that there is anything amiss. She is above average in intelligence, particularly reading (she's reading, with 95% comprehension, at a junior high level in first grade). However, her motor skills are weak, she has a terrible time writing, she doesn't "see" things the way her peers do, she has odd ideas about things and very prescribed routines and mannerisms. We just got back from Disneyland, and it was so hard walking through Tomorrowland with her because she only wanted to step in the diamond tiles. She won't step on cracks. She has lots of friends but will sometimes just walk away from them as if they weren't there. I have to keep a close eye on her socially because there are many situations that are extremely stressful to her that don't bother other kids her age in the least (walking onto the playground in the morning, eating in the cafeteria). She's generally fine once she has incorporated the new components into her routine. She has always liked to watch certain movies that include singing and dancing (Wiggles, Kidsongs), and she knows every word and nuance. She has her own dances for each song. When she was little, she would follow the same steps over and over and over again. She flaps her hands when she's excited or scared or interested. She's very naive, empathetic, and sensitive. Until she was 4, she would not interact with others besides dh and me. She had a speech delay and her words did not resemble the real words very much, which made it impossible for most people to understand her. She is completely ambidextrous but I was told by the occupational therapist that this is not a good thing because it simply makes it even more difficult for her and she already struggles.

They tried to sign her out of special ed after kindergarten, but dh and I said no. No one in her class knows she is special ed, but we have certain resources available to us that have been invaluable in transitioning her into first grade. I'm worried about next year because I know they'll want to sign her out of special ed and I'm not sure what to do. I know that whatever was going on inside her to qualify her for special ed initially has not gone away, but she has learned coping mechanisms and has reached developmental stages that have allowed her to function pretty normally. My fear is that signing her out will remove our safety net and we would have a very difficult time getting it back, but at the same time I fear that keeping her in special ed will eventually create, unnecessarily, a schism between her and her peers.

I'm sorry to have blabbed on and on about my own situation when my intent was simply to offer support, since I can't provide information. I will be waiting to see what you find out. If you have any advice about what course of action to seek with a special needs child, I'd love to hear it.


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RE: fragile x, anyone?

Seekingadvice - as a former teacher, BA in psychology, and aunt to an autistic (now upgraded to Asperger's) 14 year old nephew, I have to chime in that your dd sounds like she falls within an autistic spectrum. Autism is hard to diagnose, but there are certain textbook characterstics that most autistic kids have at least some of. Your description of your daughter fits those characteristics. You didn't mention, but has she ever been evaluated for autism? It doesn't sound like Fragile X to me, but autism, very possibly.


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RE: fragile x, anyone?

Paige, your DS sounds remarkably like someone I know very, very well - I understand your frustration.

I believe that like Muscular Dystrophy is a catch term for many specific metabolic & neuromuscular diseases, Autism is the same. I think over time, we will find that there are different and separate conditions that for too long we've thrown under the Autism umbrella - if that makes sense. Part of the underlying difficulties is that Autism is symtomatically diagnosed and there are massive degrees of ranges for many symptoms.

Best wishes Paige, I 'll think of you & DS while you wait for the results.


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RE: fragile x, anyone?

SA, sometimes, in some ways, it's more difficult for the parent(s) of a child that has borderline 'symptoms'. Kids come in all flavors and how do you distinguish a child that is simply marching to their own drummer from one that has a disorder that should be medically addressed?

Despite what medical experts may say, don't ever dismiss your gut feelings and/or intuition. Find someone who can help you sort out valid symptom from quirk and then prescribe some sort of plan or action. In regards to SE causing a schism, there are ways for DD to be included in the classroom and pulled out on occasion for more intensive instruction/therapy. I guess what I'm saying is we can't always get a label and sometimes it makes things that much harder.


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RE: fragile x, anyone?

First of all, I just want to say that even though I haven't done a lick of work on my kitchen in the past 6 months, this is still by far my favorite GW forum. I can never get over how smart, well-informed and just plan nice the people here are.

Sweeby, as usual, a very informative post. I'm sorry that you didn't get your answer in Fragile X. Not that we want our kids to have any syndrome, but when we know there is something not right it is always helpful to have a name for it. In our case, DS has several labels slapped on him for purposes of getting the educational help he needs, but it would help me understand things if there was one, umbrella-like syndrome I could point to in order to explain it all. I know that you understand that!

Your theory about IQ is very interesting. I wonder if that is the case here, since I do have a fairly high IQ. Interestingly, when DS was five he took the WPPSI test and scored an IQ of 138. When he was in 2nd grade they gave him the WISC II (or III?) and it was much lower, only 106. He took that one last year again and it was consistent at 108. The psychologists who did the more recent testing (including a private neuropsychologist) wrote off the earlier testing due to his young age and bias of the test administrator. But honestly, DS was an extremely analytical and inquisitive (if not book smart) young child. He always asked questions that never occurred to other kids. I don't really see that in him as much as he gets older. I've always wondered about that.

Seeking, I do know how you feel about not "labeling" a child unnecessarily. If she can "pass for normal" among her peers, why draw attention to her idiosyncracies? But I think you might find that as she gets older the idiosyncracies become more pronounced. Besides, having a diagnosis does not require you to share it with others. But it can be a very helpful tool.

In your case, it seems like smooth transitions to school and between activities may be the biggest hurdle at school at this point. If DD has a named disability you can ask the school for a 504 plan which would force them to provide accommodations for her disability without putting her in special ed, per se. So they would have to help smooth transitions and otherwise accommodate her, but she wouldn't necessarily be pulled out for special ed classes (although a social skills group may be a good idea). For this reason, I think it makes sense for you to seek a diagnosis for her. I highly recommend having a neuropsychological assessment done. They are expensive but invaluable. I would advise finding a very reputable neuropsychologist and paying for it privately if you can swing it. That way the school's biases are not reflected in the testing (yes this happens all the time). Then you can request a PPT and have the neuropsychologist attend with you.

Paulines, I agree that it is difficult to diagnose autism because there are so many potential symptoms and it is a spectrum disorder. Having spent lots and lots of time looking at it, it really isn't a fit for DS. It is a fit for his best friend, who is my best friend's son. He's a brilliant kid but more of a "marches to his own drummer" kind of kid than DS. He was a hand flapper as a young child and now restrains himself by rubbing his hands together. He does not seem to need lots of social interaction, and has plenty going on in his own head to keep him busy. People who don't know him as well as his family and I do wouldn't really see it, but his mom and I were researching Aspergers for my DS and she called me and told me she thought her DS had it instead! I had already come to that conclusion but was waiting for her to bring it up. There is no current need to do anything about it in her DS's case since he does fine in school and has plenty of friends.

OK, off to work with me. Seeking, please feel free to reply about your DD. No hijaking worries on this thread - - a discussion about special needs kids is helpful to us all.


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RE: fragile x, anyone?

butting in on this conversation if you don't mind...

I have a 13.5 yo ds that we have been through *all* kinds of testing with...I am on several email lists and hear of kids like this all the time...

Paige--have you looked at Non-Verbal Learning Disorder??? It is not generally recognized by the schools....Many symptoms overlap with Aspergers, but not all kids with NVLD have Aspergers...

that early WWPSI is probably a truer indication of your ds's IQ. esp with slow processors, they will tend to test lower...do you have your dss WISC scores, including the break down of the subtests??? low scores on certain tests indicate different things...and if there was a big spread between Verbal and Performance and the tester lumped them together--it would rsult in a lower Full Scale IQ...

there are many reasosn a kid can score *low* on a test, but it it is almost impossible to get a false *high* score...

Ok, so here is my ds's profile: exceptionally gifted. Non-Verbal Learning Disorder, ADHD combined type, Sensory Integration disorder and Visual processing problems.

drat, I just got a phione call about an appt I forgot...more later if you are interested...

Nancy


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RE: fragile x, anyone?

Kinda nice seeing who else here has special kids...

Seeking, from your post, Asperger's Syndrome sounds like a very promising fit for your daughter. If the Dr. you take her to for diagnosis is a "technical stickler," the speech delay could rule it out, but everything else fits, and I know many kids with Asperger's diagnoses who had speech delays as young children. (They outgrew them - the autistic kids didn't.) You might want to do some phone interviews with prospective Drs. first to see how they view Asperger's before scheduling an appointment.

While I understand your concern about labels, please also know that the school can't legally divulge a child's medical or educational diagnoses to anyone without your explicit written consent. And being eligible for special ed. under IDEA offers many more protections and services than a Section 504 eligibility. It certainly does not mean your daughter would be placed in a "special ed. class" no matter what your school may tell you. I would urge you not to agree de-classifying her until you are absolutely sure she won't need future help. If it turns out your DD does have Asperger's, a typical scenario would have social problems emerging in unstructured situations followed by behavior problems as the social issues cause her stress. A 504-BIP in the hands of a less-caring administration could leave her vulnerable to disciplinary actions that are totally inappropriate. An Asperger's diagnosis would typically entitle her to consideration for a variety of services designed to ease or prevent social stresses -- social groups, friendship circles. You can always decline services you feel she doesn't need -- much easier than arguing for services the school "doesn't have to" provide.

Paige - I've had a similar "dropping IQ" phenomenon for both of my boys. I think it has probably has a lot to do with the type of intensive parenting and early exposures typically done by educated parents, as well as, the type of questions on IQ tests for very young children. My boys' later (and more stable) scores are both 20-30 points lower than early (age 3-5) estimates. I think my older son's later scores may be wrong because he is dyslexic and can't detect the nuances in a written question with complex wording, yet he has no trouble manipulating complex ideas. My younger son's earlier results were, IMO, just plain overstated. He's a sweet kid and I love him to death, but his IQ is just not average - never was.

Non Verbal Learning Disability is an interesting idea. A lot of what I've read seems to suggest it's "Asperger's light" or "Asperger's in denial," but I'd be curious to hear your thoughts on the matter.

Paulines - I couldn't agree more about these vague "umbrella labels" for spectrum disorders and I think it's really contributing to some of the research difficulties. My younger son's official diagnosis is "PDD-NOS" which is pretty darned meaningless. Compared to all of the other PDD-NOS kids we know (about 40 we know well), my son's profile isn't exactly like anyone's. But there are several kids whose profiles are very similar to each others, and several groups that seem to emerge. I'd love it if researchers could make more headway in sub-grouping our kids so they could get more meaningful results. Test GFCF diets in autistic kids with digestive problems, not in autistic kids without tummy trouble! Look for vaccination correlations in kids with regressive autism, not kids who were born that way!

Well, enough of my special kids soapbox --


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RE: fragile x, anyone?

Paige, Like others here I want you to know I am thinking of you. I had a very hard time accepting my son's autism (Asperger's) diagnosis. He did not fit the typical profile. I first had him evaluated just before he was one year old (he was our foster child) as a neccessary step for adoption. He was average to above average developmentally at that time. By age 2 he was not verbal but he could pick out the red button or blue button or any other color from a mix of colors. He could find squares and circles and hexagons. So I had him evaluated again. The psychologist determined that he had a speech delay and that he had appropriate social exchanges with his peers but that those were somewhat hampered by his lack of language. So just before he turned 3 the school evaluated him. And again determined language delay. I asked about autism and the phycologist told me no, he was too social. He was placed in the special ed preschool. I might mention that he had gained a lot of vocabulary but no verbs. But the teacher saw lots of sensory seeking behaviors and meltdowns in the classroom. Another evaluation and they decided to put him in a class devoted to autistic kids. Initially I was upset about this (denial?) but it was a great gift. In a short time he was talking non stop. He learned to manage his meltdowns and became a much happier child. Sadly, we moved last May due to my husband's job. The new school system doesn't have anywhere close to the number of programs we had before. My little angel who loved school now is so unhappy again. I have talked to the staff in the kindergarten and they pair him up with a buddy for the day but he comes home and falls apart. He fell on the floor and cried for over an hour the other day telling me he was stupid. His friends at school told him he was stupid and he wasn't my smart boy, he was stupid. It broke my heart. He reads at the 3rd grade level but has some difficulty processing language. So if you ask him a question he answers with "I don't know" as a way to buy time to process.
Sorry I'm rambling. I am going to the school today to advocate for my son but I'm not sure what I'm going to ask for. Nan


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RE: fragile x, anyone?

paigect - Don't be in a rush to rule out Aspergers, each doctor you see will have their own opinion. And each case of Aspergers is completely different from another. That is what makes it so hard to diagnose. I know, my 22 yr. old son has Aspergers or high function Autism. He was so mild, he wasn't diagnosed till he was 10. He behaved oddly and didn't act age appropriately and as he grew older it became more apparent. After seeing several doctors, psychologists, and psychiatrists we finally went to an Autism specialist at Stanford. They did 3 days of tests with a whole panel of doctors to come up with that conclusion.

He has a lot of the same things, flat-footedness, double-jointedness, big ears that stick out, long face, long fingers. That could be Marfan Syndrome which my son also has and seems to go along with Aspergers. You should have him checked for that because it also affects the heart. My son also has MVP (Mitral valve prolapse) and has to go in for ultra sound and EKG every 6 months. It also affects the connective tissue in the muscles and joints so they have more problems as they grow older.

And Marfan Syndrome also affects the bones as my son was diagnosed with scoliosis at 13 and had to wear a brace for almost 2 years. His back is curved and one hip is still shorter then the other so he has to wear special orthopedic shoes. Some day he will have to have surgery to get a metal rod inserted but it could have been worse if he hadn't had the brace.

My son has a very high IQ and can be very attentive with eye contact (trained him to do that - he didn't do that when young), affectionate, funny with a great sense of humor, social and engage in a conversation though like you said not always age appropriate. At first you wouldn't notice that he is any different from other young men his age until you talk to him awhile then it becomes more apparent.

He also has to this day extreme sensitivity especially to certain foods. I just don't give him the foods that bother him and make everything very bland. He is also sensitive to light and loud noises. I don't know if that is due to his Aspergers or OCD (Obsessive-Compulsive Disorder), which also seems to go along with Aspergers and Autism.

He has even taken college classes and done very well. You won't see him do any of those repeated mannerisms that those with Autism or Aspergers are suppose to have. Again trained him not to do those in public. He only does it when he had a very stressful day and does it private in his room by rocking himself to sleep.

At 22 he is still at home and probably will be for quite awhile. He is not good at doing the every day things to take care of himself, forgetful even about meals. And he goes off on tangents, especially if computer related, so hard for him to keep a job. He has to be constantly reminded to finish the task at hand.

What the future holds, who knows? I have learned to take it one day at a time. And to fight the doctors, teachers and other so called experts to make sure he gets what he needs. As any parent, all you can do is make sure they get the best life you can possibly give them then have faith that it will all work out in the end.

Sorry about the long post. Just wanted to let you know you are not alone. And keep an open mind.
Clare


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linked - Autism & Fragile X

I just saw this on the Fragile X website. I guess I will ask my son's doctor to test him. You learn something new everyday.
Just thought you might like to know.

http://www.fragilex.org/html/home.shtml

Autism and Fragile X Syndrome

FACT: For between 2% and 6% of all children diagnosed with autism, the cause is the Fragile X gene mutation.
FACT: Approximately one-third of all children diagnosed with fragile X syndrome also have autism.
FACT: Fragile X syndrome is the most common known single gene cause of autism.


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RE: fragile x, anyone?

Boy, I feel everyone's frustration! Here is our interesting family history. I have 4 siblings, which include one brother who suffered with A.D.H.D. as a child and one sister who suffered then and now from severe O.C.D.

My 16 year old son started chronic blinking at 5, followed by facial twitching. His pediatrician suspected possible Tourette's syndrome. By age 9, he developed O.C.D., which worsened as he got older. I recognized the symptoms because it manifested much like my sister's had (although as a child, we just thought sis was a weird kid with really strange idiosyncrasies).

Last year at age 15, my son's O.C.D. symptoms had become so intrusive that he finally had to begin medication (there are no behavioural therapists in our area). Oddly enough, once the medication began to take hold and slightly reduce his O.C.D. symptoms, the blinking and facial twitching stopped. His doctor considers him to have extremely mild Tourette's with severe O.C.D.

He told me that the part of the brain that controls mood and thought process is so complex, that some areas of 'short circuiting' cross over and cause one symptom predominently seen in one syndrome and another symptom predominently seen in another syndrome, etc. So while some people have only the classic symptoms of one subtype and have a clear cut diagnosis, others can never be 100% diagnosed because their symtoms include a mixture of several syndromes.

One of my brothers has 2 sons with Asperger's type symptoms, although one tests as a genius and the other slightly below average. Another sister has an Autistic child. Among the 16 grandchildren, 4 have some type of brain based disorder, so clearly there is some mutation in that intricate part of the brain that was inherited and passed down, but with the exception of my son and my sister, no two have the same symptoms. Oddly enough, my sister with the O.C.D., and my brother who had A.D.H.D. as a child, have all healthy, non symptomatic children between them. Only us 3 'healthy' siblings have between us 4 children with some type of syndrome. So I guess a defective gene skips around and doesn't always pass from parent to child. I'm happy that's the case, since they both had so much to cope with as children, it just wouldn't be fair that they have to see their own children go through the same thing.

It really makes me wonder what is causing the damaged genes that seem to be producing so many children with brain based disorders these days. Was it too much food additive/chemical/toxin exposure in our generation, who knows? But at least disabilities of this nature are no longer in the closet and stigmatizing to families as they would have been 2 generations ago, when children with exceptional problems were often institutionalized. Thankfully, there are forums like this where we can offer information and be a good source of support for each other.


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RE: fragile x, anyone?

This has been such a fascinating discussion. I knew that my dd has something akin to autism, but it appears she may actually be autistic after all. We've heard PDD-NOS, Asperger's, mild autism, autism spectrum disorder, etc. I know that spending 2 1/2 years in an autism playgroup made a world of difference. What annoys me is that the people who are now making the decision to push for her to be released from special ed are not the people who have witnessed her progress. You would never believe, seeing her today, how far she has come! When we first enrolled her in the special preschool, she would not look anyone in the eye. She wouldn't respond except to music and books. We had to attend with her until she was finally comfortable enough to be left alone for a while, and then she attached to a single teacher only. They did wonders!! I am amazed at the progress and the speed with which they accomplished it. They told us that they'd never seen a child with her particular combination of behaviors etc and didn't really know what it was, other than she has obvious processing disorders and many manifestations consistent with autism. However, in spite of her refusal to interact initially, she was a very social girl and enjoyed being with others. At first, she was so stressed by the attention that she would tune people out and go into her own little place, or she would respond to a question with an answer that had nothing to do with what was asked. Her teachers told us that that was one of her self-calming methods--she was afraid of being different and not giving the right answer so she chose to ignore it or give a response that couldn't be evaluated. As she grew more comfortable and confident, those behaviors largely disappeared. We've been assured she is not autistic, but I wonder if that is correct.
She used to always walk on her toes (typical autistic behavior) and flap her hands. She does so far less often now, usually at home or in extreme situations. Music still sends her into a different world, where she exhibits the hand flapping (more like twisting them back and forth at her sides) and a kind of rocking motion, back and forth from foot to foot (on her toes). She will decide that her stories or movies must be read/watched in a specific order. She tends to find something that appeals to her and get absolutely, totally immersed in it. For example, she adores Disney princesses and wanted anything and everything she saw with princesses on it (which is just about anything that has ever been invented, sigh). She would re-enact entire scenes from a movie. She used to put on her Cinderella dress and glass slippers and follow the script exactly with Cinderella hearing the clock, running down the steps, losing a slipper, etc. She liked watching her princess movies while dressed as that princess, and in her mind she WAS that princess. She used to have the most horrendous tantrums that just came out of nowhere, like if we were in a store and she saw a princess book and was told she couldn't have it. She was not a tantrum-type kid, but sometimes she simply couldn't control her emotions and would erupt. I'm talking about kicking, screaming, hitting, and other parent-nightmare behaviors. There was no way to overcome them except to hold her, try to soothe her and wait for her to calm down. I hit on a few methods of diffusing it when I sensed one of those episodes coming on by personifying the feelings and letting her address them. We called them The Angries, so she would tell The Angries to go away and leave her alone. We would sometimes squeeze them out and then whack them with pillows, which often made her giggle. A bit later we got to where she could pee them out and flush them :)

OTOH, we have been assured that her emotional behavior is not at all consistent with autism and therefore she cannot be autistic. She is extremely sensitive and empathetic; if another child (or person or animal) gets hurt feelings or has difficulty, she is right there to comfort, support and assist. Everyone likes her.

She was in a regular kindergarten and is in regular 1st grade but has access to some great programs that give her a "big buddy" and "special friend," neither of which have caused her any discomfort as far as her peers go. My concern about her being in special ed is not so much what the other kids might think about her but how she views herself. She doesn't realize, at this point, that anything is different for her. Those moments when she does feel different are excruciating for her. Her primary tool has always been to imitate. She is a master at observing and copying the behavior, tone, mannerisms etc of those around her so she won't stand out. She almost always follows someone else's lead (except when it comes to her little sisters).

As far as her speech delay, I am not sure that is the correct word. Her speech was right on time and appropriate for her level, but she had a develpmental processing disorder that did not allow her to verbalize correctly. She verbalized what things sounded like in her brain, which was not what everyone else heard and so she would get extremely frustrated when no one understood what seemed perfectly clear to her. The audiologist showed us a chart outlining her disorder and it was fascinating to see that every sound she uttered was exactly tied to the sound she thought she was making. In other words, it wasn't just a random bunch of sounds but a specific pattern that correlated exactly to the proper sounds. It wasn't the usual substitutions children make when they have a hard time with a sound, so we had been quite confused at how she came up with her words. She learned to make words out of the sounds she *could* make understood, so that she had a little language made up of those things (for instance, she couldn't make a "k" or "t" sound so she learned to call the cat Mow). The audiologist told us that she would outgrow it as her brain developed that area, and she was right.

The thing that really startles me is the realization that I possess so many of the traits myself. I wonder if I have Asperger's. I've always had some odd mannerisms and routines (I always count things like stairs, brush strokes, and so on; I type in my head-- when someone is talking to me, I type it up; I used to feel compelled to do things like lift my feet off the floor of the car whenever we passed a utility pole). As a baby, my parents took me to the doctor because I always rocked myself to sleep by banging my head against the crib (and later, the headboard). I had big knots on my head. I still rock myself in bed, in the car, in chair, etc, though I no longer bang my head against the headboard :) I could always overcome those things but the urge is there. I understood when dd wanted to step in the diamond tiles because I would have done the same thing as a kid. Unlike dd, though, I was never very social. Not asocial, but definitely preferred my own company much of the time. I am still that way. I tend to keep my circle of friends small. I highly dislike intense sensory stimulation and can't take it for very long. I lived for fairytales as a child.

I don't know; I sometimes think that there is no such thing as normal and we all just have to deal with varying degrees of disability. On the other hand, with your children, you want to make sure they have every opportunity to find happiness and success, so if that means getting an official diagnosis, that is what I will do.


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RE: fragile x, anyone?

I applaud all of you for your courage and determination and love of your wonderful children; you are lucky to have them and they are lucky to have you!


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RE: fragile x, anyone?

Fascinating, Seeking! One minute, she sounds very similar to a good friend's son (diagnosed with Asperger's), the next minute, not at all... My friend's son has some of the same types of counting, non-responsive answers and anxiety issues - he used to think that the birds chirping meant the birds were laughing at him! And like your daughter, he has made LOTS of progress and is now doing great in regular classes. But he doesn't have your daughter's talent for blending in. That would be a very rare skill indeed for someone on the autism spectrum.

Personally, I think there are a whole bunch of syndromes out there that just don't have names yet. They're "sorta like" autism or Asperger's, but not completely good fits.

The latest one I'm looking at for my son is William's Syndrome. Parts of William's fit him perfectly -- the highly social nature, intense musical affinity, unusual profile of learning disabilities. Other parts don't fit -- the particular physical features are an 'iffy' match; and my son is larger than average, not smaller. The genetic testing we did was supposed to be a "pretty good" (but not 100%) screen for William's, so I'm wondering if he has a similar genetic defect that wasn't an exact enough match to trigger the test.?


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RE: fragile x, anyone?

Hi all,
I feel bad taking so long to respond, but it's been a crazy few weeks around here.

Thanks to everyone who suggested taking a further look at NVLD and Aspergers. All of the doctors who have evaluated him have ruled it out. I have confidence in the opinions of his neuropsychologist and psychiatrist in particular, because they are both well known and published experts in their fields and they both had a good handle on his symptoms. His verbal IQ score is significantly lower (22 points) than his perceptual, which is his strength. And while I say his social responses aren't appropriate, it is a really subtle thing with him. It's not that they are totally out of left field, it's more that they aren't really sophisticated. I think it relates to his overal processing difficulties. It's hard for him to integrate information and process it and come out with a well-planned response in a quick manner.

namabafo, can you tell me about your DS's diagnosis of SID? My DS has extreme sensory issues with food. I'm wondering if it could be a SID thing.

Sweeby, I have the same suspicions about my DS's more recent IQ scores being the product of his language disabilities. In his case, I also think it ties in with a relative (to his peers) decrease in his general fund of knowledge. Because he was a non-reader for so long, he simply did not pick up as much as his peers.

Nan, your story breaks my heart. It seems like so many school systems are ill-equipped to deal with our kids' issues. Are there any private schools nearby who specialize in helping kids with disabilities? I know it is expensive, but if there was some way to swing it for a few years it could make a huge difference.

Clare, it sounds like you have been an excellent advocate for your son. I think many of our kids will likely be home with us until they are in their twenties. With all of their issues, it makes sense that they would need more time to leave the nest. Marfan's syndrome does not sound like a fit for my DS, but thank you for the reference.

Aptosca, thanks for the info re: Fragile X and autism. It does seem that there is a significant correlation. Again, I'm pretty certain this is not the case with DS, but I haven't ruled it out altogether.

pickyshopper, I thought this part of your post was so interesting:
"He told me that the part of the brain that controls mood and thought process is so complex, that some areas of 'short circuiting' cross over and cause one symptom predominently seen in one syndrome and another symptom predominently seen in another syndrome, etc. So while some people have only the classic symptoms of one subtype and have a clear cut diagnosis, others can never be 100% diagnosed because their symtoms include a mixture of several syndromes."

I agree with this completely. My DS has been diagnosed with bipolar and has all of the classic symptoms (plus family history), so it was an easy diagnosis. But his other issues don't fit under that umbrella, nor any other I have seen with the possible exception of Fragile X should he be found to have it. As for what is causing all of these issues in our kids, I think that first of all, we are much more advanced in diagnostics than we used to be. But I also think environmental factors must be considered.

I have to go for now, but will finish posting later!


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RE: fragile x, anyone?

I was listening to NPR one day and they interviewed a man , a scientist, with Aspergers. They asked him if he wished he didn't have it. He replied that his life, in his head, was rich and interesting and under no circumstances would he ever want to be without this condition. So it is not the end of the world.

You are wonderful mothers, all of you.


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RE: fragile x, anyone?

paige--SI was dx-ed by the school OT, but just confirmed what we thought. He has vestibular, proprioceptive and visual motor promlems..

My son had lots of trouble orienting himself in space--he rarely played on climbing structures at the playground and stuff. At school he never just *sat* in a chair. He often stood at his desk and leaned on the heels of his hands to give pressure to his joints. At home he hangs upside down off chairs or beds while reading. HE was always bumping into things, on purpose. If were walking down halways, he had to run his hand along the wall.

He chewed everything. His lego sets have no tires as he chewed every one to bits. His 2nd grade teacher showed me a *pile* of the metal ends of pencils that hold the erasers that he had chewed into little balls...

He couldn't catch a ball to save his life. It took forever for him learn to ride his bike.

Thought he is phsyically hypo-sensitive, he seems to be hyper-sensitive when it comes to food...smells, textures, tastes can all turn him off...he does like hot spicy food, and sour...

OT actually didn't help all that much. Vision Therapy did help with some of the visual motor stuff as his vision exercises combined a visual and physical aspect...

He leaned to catch and hit a ball, but he is not interested in sports. He still hangs off the furniture while reading. And he is slowly trying new foods...


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RE: fragile x, anyone?

Seeking, I didn't have time to respond to your last post when I posted several days ago, but it struck a chord with me for several reasons.

First, I do think your daughter has many of the classic symptoms of Autism/Aspergers. I think perhaps that you and she are very lucky that she does seem to have much more social empathy than other children with Aspergers, but that doesn't mean she doesn't have it.

I sympathize with the temper tantrums. My son had the same issue from a very young age. I was careful not to "give in" to his temper tantrums, which were typically caused by transitions (leaving a friend's house, dropping off at pre-school) or me saying "no" to something like candy at the grocery store. Now, I NEVER bought him candy at the grocery store, but he would still have a tantrum over it every single time we went. This was contrary to all advice which said that if you don't give in, they will learn not to have the tantrum. He simply did not learn that the way he should have. I, too, would have to hold him until the violent tantrum gave way (sometimes hours) and more than once it was so bad I had to put him in his room (from which I had removed all possibly harmful items) and hold the door closed, because I wasn't strong enough physically to restrain him without one of us getting hurt. He would also bang his head against the floor, even moving to the kitchen where there was no carpet so it would hurt more. These tantrums were part of the reason he was diagnosed with bipolar. I'm not suggesting your daughter has that - - my son also had severe mood swings including depression and many other classic symptoms of bipolar that you have not described in your daughter. I'm just sympathizing with the tantrums because people who have not experienced this can't understand the pain it causes a parent.

I think you are very brave to examine the possibility that you may also have Aspergers. It does seem to fit with what you described, although I will say that you never seem socially "stilted" in your posts here. I have also recently begun to wonder if I have Aspergers. Recently something shocking happened when I was working in the yard (I uncovered pieces of old headstones in the front walkway) and my neighbor and I were so shocked we were sort of jumping around the yard, and I noticed I was flapping my arms. I thought back and realized this is something I do when very excited or upset. I have a bit of a hard time socializing in large groups. I don't always express myself in the way I intended, which gets me in trouble on the boards at times. All of these things would also be symptomatic of Fragile X, which makes me wonder even more if I've passed it on to my son.

In any case, I just wanted to let you know that your post struck a chord with me for several reasons.

Sweeby, I've never heard of William's Syndrome. I'm a bit worried by all of these genetic syndromes. I wonder what long term effect a diagnosis with a genetic syndrome will have on our kids.

Mitch, thanks for the encouragement!

Hamptonmeadow, thanks for that tidbit from NPR. My son often feels sorry for himself because of all of his various diagnoses (Bipolar, dyslexic, etc) and I always tell him that in a way he is lucky, because if he learns to live with adversity now he will always be able to overcome challenges as an adult. He doesn't buy it yet, but maybe some day. :-)

namabafo, we also tried vision therapy. I wasn't too impressed and after several months we stopped going. It was very intensive and didn't give us any real results. I'm glad it worked for your DS. I wish I could find something to help with my DS's severe eating issues. He seriously has a very limited diet. For dinner it is either grilled cheese, bacon, or mozzarella sticks. For lunch, garbage yogurt (Trix or some such) and snack foods, fluffernutter, or grilled cheese. For breakfast he will branch out and eat waffles, pancakes or french toast, but he drowns it in syrup. And the only fruit or vegetable he will eat is apples. Before I get slammed with criticism, whenever he tries something else he gags and throws up. It's been this way since he was two. Sigh. Thank God for vitamins and milk!


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RE: fragile x, anyone?

paigect - I also sympathize with those who have children that have really bad temper tantrums. I did all the right things like you said but nothing made a difference. That was before we knew our son had Aspergers. It got so bad I hated to go out in public with him when he was very young. The looks people would give you, like you were the worse mother in the world. As he grew older he finally grew out of it.

But they were so bad they officially classified him in school as Severely Emotionally Disturbed and put in the class with the children who were schizophrenic. That's when we went to Stanford and got him properly diagnosed so he could be put in the right class for him.

And in regards to my son's Autism/Aspergers, my DH got diagnosed with having mild Aspergers by having our son diagnosed with it. He fit all the traits to a T. He also got diagnosed with OCD when our son got diagnosed too.

He always wondered why he was the way he was and was drawn to fixing electrical devices and electronics since he was 10. He later got a Masters Degree in EE and is a semiconductor design engineer. I don't think he would be as good as he is if he didn't have Aspergers. It allows him to tune everything out and really focus. He is good at doing remodeling projects, like our kitchen, because of that too. The OCD makes him a perfectionist which can be both good and bad.

So being different isn't necessary a bad thing, you just have to find your nitch. That's what I tell my son. He is great at reading computer code and finding errors. Maybe someday he might get a job at it.

One last thing about food. Even at 22 years my son is still very picky but more open then he use to be. But when it comes to lunch it has to be PB & J and has been since he started eating them at 3 or 4. I figure what is the harm. My DH has been eating a yogurt and an apple for lunch for the last 29 years and still wears the same size 34 jeans. I wish I had that problem!
Clare


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RE: fragile x, anyone?

I'm entering this discussion because I may have the oldest child on the thread with the kind of problems described here. I want to share the happy ending. My child may not have been the most severe case of anything but we had plenty of severe angst.

Though everyone here alludes to the variety of behaviors along a spectrum I want to reiterate the range of normal is WIDE if we all don't get caught up in labelling our children abnormal, trait by trait. I grant it is hard when several behaviors come together. In our child's case there was serious hand flapping, inability to sustain a friendship, gross and fine motor problems. We had all the tests that were available but there weren't labels in those days -- just a lot of primitive eegs (try making a six year old stay still for an eeg!), tests for epilepsy and lots of worry spinning our wheels to know what to do.

Tests were, as you all know, inconclusive. I personally suspect Asbergers.
We hired a tutor to coach ball skills and improve handwriting. There were shrinks. There were hard times making friends. Academics were a strength from the start and that was a BIG plus because intellectual pleasure mitigated all kinds of social and physical problems. Skip to young adulthood and beyond: Doctorate in an arcane field and teaching at a fine university, married, children. (I still see the twitching fingers but no one else does.)

It is so hard to watch at 6 years old when all you can do is put one foot in front of the other and deal with each day as it comes. My heart goes out to kids and parents. My hard-to-take advice is build on your kids' strengths so that the deficits (so-called by the experts) don't diminish their human capacity for growth and development. (The experts with their male --in those days always male--authority and condescension to parents was one of the more unfortunate things; I hope that part is better now.)


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RE: fragile x, anyone?

"The experts with their male --in those days always male--authority and condescension to parents was one of the more unfortunate things; I hope that part is better now.)"

Elizabeth, I hate to report that it isn't over. I get it from female experts as well, but more often from the males. And they always try to blame the home environment.

We got DS's test results - - negative. I didn't get any details yet to see if maybe there was a minor mutation or whatever, but overall it's negative. So the mystery goes on . . .


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RE: fragile x, anyone?

Another success story but first a sidebar. I've been on gardenweb for a while but I've created a different sign-in for this thread. I hope you will understand why. Have you thought about how your children would feel now or in the future about the information you are posting about them being public? Perhaps I'm more concerned about that because my children are adults. I know some of you from your kitchen web postings. A lot of us post enough details such as pictures of our kitchens that friends and associates could recognize us. Our children may not want to share details of their medical histories or school problems with those folks. I don't expect mine would.

One of my children had a not easily categorized learning disability but high IQ. There were a lot of times I wished that he had something more understood. Teachers didn't know how to deal with him. One of the most difficult things for me was that teachers and administrators often assume the kids problems are your fault. A lot of teachers understood dislexia or ADD to some extent but not the broader range of learning disabilites. You could fix it if you tried harder. That can be so frustrating and guilt creating.

The neuropsych evaluation was helpful, particularly the part where they go over the subtests which helped us understand some of the weaknesses and strengths. The subtest breakdown is so much more useful than the test score. We arranged for this privately and the doctor was very good. He also showed us where the evidence was in an earlier test by a guy who had incorrectly diagnosed the problems as just manipulative behavior.

Like some of the other children here, he had some Aspergers like symptoms but not a full set. Things like not making eye contact, not emphathetic, excessive sensitivity to taste, touch, etc are very familiar.

We found that the public schools were better at dealing with this than the private school our son started out at. The private school didn't want the bother. Even in the public school it wasn't easy. Most of the special ed and learning disability support was aimed at kids who are very low functioning and performing well below grade level. Getting support for a kid who found school stressful and had perceptual problems took a lot of parent involvement and some money spent on help from counselors outside the school.

Given help, he did learn to compensate. He needed help through most of his pre-K through 12 education. By college he was pretty much able to handle things. Perhaps he was even better at dealing at the ups and downs than our child who had sailed through school. Junior college went well and he got grades that allowed him to transfer to a highly ranked college.

He got a degree in a scientific field with a GPA better than 3.5. Now he is applying for grad school to work on a PhD. Last night we heard his verbal and math GRE results. He got an almost perfect score on math and an approx 90% score on verbal.

The funny thing is that he also seems to be better at dealing with people now than his siblings. He may be more analytical about it rather than intuitive but he makes it work.

He is also married with a child on the way.


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RE: fragile x, anyone?

Clare,
I just read this post about your son and I want to say that my heart goes out to you. I never had children and I can't imagine what you must be feeling. My mother had Alzheimers for ten years and died five years ago from it. She used to start screaming at people in stores and restaurants. Sometimes life is so sad. It is so hard to see the person you love going through something that you have no control over. I tried so hard to help my mother but in the end the disease won.
I wish for you to find the answers that will help your son. My thoughts are with you.
Donna


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RE: fragile x, anyone?

Donna - You have mail. Sorry to hear about your mother and thank you for your kind words.
Clare


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