Son not yet diagnosed

My son was tested last week for Fragile X. We don’t know the results of the test yet. I never heard of Fragile X until 2 weeks ago when I was reading about the wrestler who killed his wife and son, who’s son they say had Fragile X. Out of curiosity I looked up the condition and it sounded a lot like my son. He is almost 6yrs old and was diagnosed with Hypotonic Cerebral Palsy last July. However, the MRI of his brain was “normal”. He has Sensory Defensiveness, and had significant oral motor and fine motor delays when he was younger. He threw up a lot cause he would choke and gag on his food. He still struggles with fine motor, and cannot write his name very well yet. He never wanted to color a picture or draw. He flaps his hands a lot and 90% of the time doesn’t even realize he’s doing it. He’s hyperactive and probably has ADHD, my husband has ADHD too. He has significant Hypotonia (so much that he was diagnosed with Hypotonic Cerebral Palsy, as I said before). His teachers and OT said that he has problems with the “pragmatics” of language. He always talked well to me and has a good vocabulary. He reached his gross motor milestones within normal range, so as his PT said, she can see why he “flew under the radar”. But his PT does think he has problems with “motor planning”. When he was smaller he would do funky things with his fingers, bend them in weird ways. And he’s had many sinus infections since birth, not so much ear infections though. And he doesn’t have large testes, but he’s only 5… I’ve read that is a sign after puberty, right? His teacher was thinking that he may have Aspergers but the Pediatric Neurologist that diagnosed him with HCP said that he does not have that nor Autism because he is too social. I’ve read that Fragile X kids are very social, so yet another sign to me…

My problem right now, is that nobody but me feels that there is a chance that this is what’s wrong with Lucas. My mother, mother-in-law and friends don’t think that’s what it is and that he’s fine. Also, if he does have it, why did I have to figure it out. You’d think that a pediatrician and one of the top Pediatric Neurologists in the Detroit area would be able to see all these signs!!!

my son was tested at 18 months and came back negative .to our suprise he was diagnosed at age 7 with FX. they did the wrong test,make sure they do the right test. I live in canton, mich. if you would like to talk to someone,I also belong to the fragile x association of michigan.
mmpopejoy4@peoplepc.com hope to hear from you . Mark Popejoy
-----Original Message-----

From: jeschenb fragilex-cpt5292@lists.careplace.com
Sent: Jul 18, 2007 1:51 PM
To: mmpopejoy4@peoplepc.com
Subject: [fragilex] Son not yet diagnosed

Thanks for the reply, I’m not sure which test they are going to do, the script said “Fragile X Analysis” on it. The blood was drawn at Troy Beaumont Hospital and is being sent to Molecular Genetics Diagnostic Lab/Harper Pathology in Detroit, MI. Every minute I wait is agonizing… I just want to know what is wrong with Lucas. I know they say Cerebral Palsy, but then why does he have all these other problems? He can run and jump etc, not what you’d think a child with Cerebral Palsy would look like. He was never “floppy” either like they say a child with Hypotonic Cerebral Palsy is like. We’ll have to wait and see…

There are two tests… a cytogenic test which they have used for years and years, and over the last 16 years, a DNA test. It is really important to get the DNA test done, because it is much more accurate than the cytogenic test. The difference between the two are, the cytogenic test looks at the X chromasome in a petrie dish, and they apply a die to the medium. The ‘fragile X’ show up with a little bit looking as though it’s going to break off, because the stain they use doesn’t take to the altered gene, hence the name Fragile X. They then count how many there are to determine the diagnosis. Sometimes the number of Fragile X’s they get in an sample can vary, so isn’t always accurate. A DNA test is where they look at the actual alteration in the gene and then can determine the length of the sequence. This is much more accurate.

I would have thought now, that they would have discontinued using the cytogenic test to determine if someone has Fragile X, but it is important to find this information out, and if they have had this, then request a DNA test.

As Mark said, it is helpful to talk to people who have children with the disorder, so why don’t you contact the local support group in your area?

Janine

if you want to call me 734 320 9360. mark

-----Original Message-----

From: jeschenb fragilex-cpt5292@lists.careplace.com
Sent: Jul 18, 2007 4:47 PM
To: mmpopejoy4@peoplepc.com
Subject: Re: [fragilex] Son not yet diagnosed

fragile x .org has wonderful info and if you call them they can help with anything you need .linda sorenson was very helpful to us .

-----Original Message-----

From: ozjanine fragilex-cpt5292@lists.careplace.com
Sent: Jul 18, 2007 5:08 PM
To: mmpopejoy4@peoplepc.com
Subject: Re: [fragilex] Son not yet diagnosed

hi i hope you don’t mind me emailing you.How you describe your son and many
of his problems sound very similar to my son joshua{9yrs}.I to came across
fragile x and asked for genetic blood tests to be done-i think everyone thought
i was a little crazy!Joshuas results came back 6wks ago- he has
microduplication of chromosome 22 apparently it is rare we are now wait to see a genetic
specialist{that takes forever}! I to keep ask the question why i had to be the
one to find this out but you never seem to get any awnsers…I hope you get
sorted out quicker from lisa wells

No, I don’t mind anyone emailing me, I want any info I can get and I’m thankful for all the replies. So, did they find the duplication of chromosome 22 when they were testing for the fragile x? I just wonder if they look at all possible genetic problems when testing for the fragile x? My husband had a lot of learning difficulties as a child, he was held back twice in school and has ADHD which wasn’t diagnosed until he was an adult. But had never had the problems that Lucas has, like oral motor, gross motor and fine motor problems. He doesn’t have sensory defensiveness either. Then on my side of the family nobody has fragile x, but my father didn’t start walking until he was 18 months old and had a hernia when he was little. My mother and brother and I all have had emotional problems. So there are a lot of suspect things in our family genes. But, what family is normal out there?!?!?!? Ha! Ha!