Anything else that looks like Fragile X

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I'm blaming DIY SOS for my latest anxieties. ds2 has diagnosis of dyspraxia which I'm not sure about. After this weeks DiY SOS I looked into fragile x and it sounds so much like him except that I always think of him as being quite bright and def not low IQ.

Should I ask for him to be tested anyway?

I was tested for:

• Fragile X
• Prada Willi
• muscular dystrophies I think - not 100% sure
• connective tissue (collagen) disorder - Ehlers-Danlos Types ie Classical, Vascular (there is also Marfans, Osteogenesis Imperfecta ie brittle bones)

..... Because I was a floppy (hypotonic) baby and so was my son, and latterly my daughter was a bottom shuffler. Geneticist did tests.

Later I was tested for Loeys-Dietz - a rare connective tissue disorder.

In the end, we have a diagnosis of hypermobility - www.hypermobility.org - and could be a type of unknown Ehlers Danlos, temporarily classed as EDS Hypermobility (type 3) but await advances in research for testing.

Many chikdren are diagnosed with dyspraxia when in fact they are later diagnosed as Joint Hypermobility Syndrome.

How is your son?

Oops Joint Hypermobility Syndrome is the same as EDS Hypermobility for me, others may disagree - but this is based on professional advice from Gt Ormond St Hospital Hypermobility Clinic.

To alleviate some worries, David Beckham is rumoured to have hypermobility.

I think Fragile X would have been mentioned by paediatrician - can you ring his/her secretary?

Oops again - what mean - paed would have tested for Fragile X if it is suspected - people know a lot about it unlike EDS.

Thanks Perfect. Maybe I should do more research on hypermobility.

I really don't hold much faith in his paed tbh.

He was refered by community nurse after school check up as he is floppy and falls over a number of times a day. He tells me his legs go dizzy.

Paed made him stand on one leg etc (couldn't do it), said he had dyspraxia but that it wasn't called that anymore. Appointment lasted about 10 minutes. She bent his arm to check for hypermobility and said there was none. No other condition was mentioned.

Saw OT - appointment lasted 2 hours. She suspected hypermobility, but am waiting for report.

Got appointment in 2 weeks with multi sensory clinic at NHS hospital in Lexden, which also deals with retained reflexes - what many of my hopes are pinned on.

He has flat feet, is still unable to dress himself fully as he struggles to reach his arms above his head, falls over multiple times per day, off chairs, out of car- he needs pulling out of the gap between the car and the kerb at least once a week. His confidence is pretty shattered by the constant falling over. He can interact socially quite well, but also likes to screech, gets way too over excited about small things, and also emotionally crushed by small things. Sometimed he gets a bit stuck in a loop where he wants to replay scenes from films / TV shows, or talk about them a lot (I mean a lot!).

He suffered recurrent ear and sinus infections from birth (noticed that mentioned on Fragile X site which got me thinking).

He can speak well - he spoke from about 10-15 months, then stopped talking for a year, then restarted.

My Mum took him, ds1 and my 2 yo niece to zoo couple weeks ago and found it upsetting as 2yo niece walked comfortably round the zoo whereas ds2 fell over and got upset a few times.

Sorry, I'm repeating myself from earlier posts now.

Now he is over 5 the falling over is getting to be a real issue, and it makes no sense to me as he can ride a bike (with stabilizers, and has done since age 2), jump two footed (again from age 2), ride a scooter, climb, swing himself on a swing, thread beads, build train sets - loads of fine and gross motor skills he is great at - but walking and running is his biggest problem.

My son has had and may still do retained reflexes eg ATNR and startle.

We are all sensory hypersensitive - ESP sound eg hoovers, loud classrooms. My two scream to cope with Hoover sounds! My son disliked touching wet stuff eg paint, and hated hairbrushing, towelling dry etc. Lots of sensory processing symptoms for us all some of which have got better with age - I'm in my mid 40s. Look at hypermobility (hms) website re proprioception - hmm legs going dizzy may relate to this.

Yes we are not flamingoes!!!! It's really hard for us to stand on one leg.

Some peads and rheums do not yet totally understand hms - look at Oxford journal of rheumatology and search Grahame, hakim, Murray, maillard, and hms, children ....

We have flat feet and have inserts and boots from orthotics nhs - trendy ones and they really help stability and decrease the number of falls especially on uneven ground.

Our super bendy hips, knees and ankles particularly cause trips, and support around ankles really does make us feel more stable and secure - may also link to proprioception awareness.

Upsetting yes to compare with others - especially with competitive mums. It all does get better with hms as you learn to adapt to it all, and realise we are different but can have fun.

Other things to check - bendy fingers/ thumbs in writing, playing Lego, easy bruising and retained scars from chicken pox, easy seen veins eg across nose bridge, forehead,chest. Sitting in a W position on floor ie feet either side of hips, fidgeting, pain especially overnight (and curled up sleeping position to get sensory feedback), liking to hug things eg lampposts in my son's case - at 13 he no longer does this!, anxieties especially socially.

Hope you find a diagnosis soonish. Have you seen a geneticist? Anyone else with similar features? You may have been told DCD developmental coordination disorder? Ie instead of dyspraxia. Also there is another term - search Amanda kirby as she has fab info on dyspraxia group of conditions.

Hope I havent gone OTT - I was diagnosed alongside my son so am keen to spread the hms word! :)

Xx

Ps your son sounds bright - check gifted chikdren website too :)

Although nothing like how you describe your DC, DD was tested for Fragile X as part of her assessment for autism.

Just so you know largelatte Dr Grounds doesn't dx anything. She "simply" tests loads of different things, which you can then go back to your paed/OT with her report as well as doing the exercises that she gives you. You'll come away with a whole folder full :)

Thanks all. We've just been to local jubilee fayre where he walked and ate a cupcake at same time, went on bouncy castle, bucking bronco, tea cups and merry go round. Then walked while eating candy floss. All with lots of noisy background music and chatting. And he had no problems, falls or upsets.

I think what's bothering me is how intermittent it can be - must be hard for him to have any faith in his own legs.

Thanks ben10 - or should I call you pikachu now? I know she's not in the business of dishing out names but am assuming she will say if he has retained reflexes so we can work on that and it might bring some improvement.

Just a thought OP there is a mum on here, (unpa1dcar3r) who has two boys with FXS, she is very knowledgeable, you could flag your query up with her...

Yep she scores all of the different visual tests from normal to v weak (or similar) as well as auditory memory, listening skills, visual memory, hand grip power, hand eye coordination, pressure when writing, pen grip, visual motor integration ability, crossing the midline, perceptual assessments, balance, irlen syndrome and all the reflexes, dominance of eye, hand, foot and ear, she did a sight test too. She didn't test everythng with him as he had had a 2 hr OT private assessment a few weeks before. I was very impressed with her. DS was due to go on Friday but I cancelled as I didn't want him to miss the Jubilee party. Next appt is in October .

She literally will give you a huge folder of exercises for each area that weaknesses have been found for.

Fragile x iq can vary a lot.

Both my girls show similar traits to fragile x. They have High functioning ASutism and hypermobility (dd1 has dyspraxia traits), They have never been tested for fragile x.

Klinefelter syndrome?

Thanks again all.

I think my main concern is if it is something like kleinfelters then knowing early is better. If we can rule out anything medical that doesn't need intervention then I am happy to just work on improving his condition and not worry about what it's called. It's just the way his legs give out on him that's really troubling me and the thought that we are missing an opportunity to help him.

Dd3 is hypermobile and her legs sometimes give way unexpectedly.All her joints are affected and sometimes she struggles to stay upright.
She used to fall alot but physio and orthotics in her shoes have dramatically reduced the number of falls.

Good luck

Thanks bunting. Definitely something I need to look into more.

As noted earlier, with fragile X IQ can vary, one can have FX and not be considered cognitively impaired. The best thing you can do is test for FX, rule it in or rule it out. With the advances made in research of late, and how FX can affect carriers as well (FXTAS - males and females, FXPOI females), having the right diagnosis is important. It is important that they run the correct test, FMR1 DNA test (aka Southern Blot with PCR analysis) - a chromosome or microarray analysis is NOT accurate or reliable in diagnosing fragile X (only accurate in identifying deletions of the gene which occurs in approximately 1% of the FX population). If your child has been tested, if you want to verify that they ran the correct test they should have given you a count of CGG repeats. Good luck on your quest for an accurate diagnosis (((hugs))) Sally

Where to go for more info on FX:
www.fragilex.org.uk
www.fragileX.org
www.fraxa.org

Thanks very much Sally. I'm now wondering if he may have been tested at birth as he had some problems with his boy bits, shaking, and then recurrent ENTinfections so I remember a load of tests being done then, but there was so much to take in, including a test for HIV that all I can remember them saying was HIV and I've forgotten everything else in the panic.

If I ask for a copy of all his notes would I be able to understand them?