Here some suggested organisations that offer expert advice on SN.
Genetic and/or Chromosome Disorders..come in and sit down....(12 Posts)
My son Jack is 2 and a half and has a genetic disorder, with no name, it is basically tht during conception his chromosome 6 duplicated and some material from chromosome 12 attached itself to chromosome 6
Anyway, Jack, as a result has numerous problems...damage to brain, in left and right temporal lobes, so he has severe epilepsy as result of the brain damage, he also is severely delayed, can't walk, talk, sits but falls down, can't play with toys etc
He also has hypotonia(very low muscle tone) and hypermobility(very flexible joints) so ths is a reason he cannot walk and may never, but seizures also hold him bk
I would like to talk with anyone else in similar position
The epilepsy has to be the worst bit by far, have had a particularly bad and emotional day today, Jack has bn spaced out looking, no sign of life and it breaks my heart, ths I think is because of the meds for his epilepsy
Jack is on Topamax 40mg morn and night and nitrazepam 7ml's morning and night, also at night he has 7ml's melatonin to get him to sleep, and has midazolam as a rescue med
I also have a dd, aged 8 who is healthy, hope to talk more with ppl in similar position
Hi proudestmummy and welcome to the forum (assuming you're new, haven't seen you around). There should be someone along shortly who knows more than me and can offer more knowledgeable support.
Epilepsy sounds tough, must be very difficult for you to deal with.
Both my dcs (9 and 12) have joint hypermobility syndrome, so they've got the hypermobility and various other connective tissue problems; but nowhere near as bad as you describe, and no other delays, just a lot of pain.
We've got an appointment booked for genetic counselling in October, and I'm quite looking forward to that; I think it would be easier to move on if we had some answers.
Hi Cory I'm not new, actually bn on for ages, just not posted in ages
Yeah it is VERY hard and I ttly agree with u about genetic counselling and getting answers, being kept in the dark is simply not good enough, sorry bout yr dc's too, not fair, if you don't mind me asking..did they walk late?
We have bn told if Jack walks he may be 4 or 5 , but prob won't walk if he isn't by age 5
Dd did walk quite late (19 months and always very unsteadily with lots of falls; she also sat late, didn't crawl, had clicky hips and was admitted to hospital for failure to thrive when a baby as the hypotonia meant she couldn't breastfeed efficiently.
Ds was a little late, but because he was better than his big sister I think we clung to the idea that he was the NT child, and he at least was going to be strong and healthy and happy. He'd probably been in pain for a long time, but we only sussed when he was 8; that's when his foot and ankle pains started, and that is also when he told us that he was in pain from his wrists a lot of the time.
Aww poor little things, been in pain for so long
My dd actually had clicky hips when I remember, when she was around a year old, but it corrected itself,she walked on her own at 14 mnths, but had bn walking around the furniture for few mnths before that xx
Hi proudestmummyever, my ds being down syndrome among a long list has also hypermobile joints and severe hypotonia. He's now nearly 9 and has been walking about 4 year now. He's still not steady, can't do uneven surfaces, curbs, stairs etc and only manages about a minute before he sits down although he has other contributing factors also. He also has seizures and is severly delayed (he's around the 18 month mark). Although I must admit my ds most of the time the lights are on but no ones home. Sorry if that sounds harsh. HTH.
hi I have ds with GDD and low muscle tonehypermoblity which is gentic as we all have to various degrees with ds beinbg the worse.hes 4 but more like 2year old ,
Also have dd age with Iga,Igg efciency which severley affects he rimmune system she also has the double whammy of being a emyshema suffera which sadly is genetic ,Unknown to me i was carrier for all of it .She also has bronchetices ontop of someone ha dit in for her really did .But went through bad timee when first realised she inhertied from me lots of tears and whys ,
my dd has an unbalanced chromosone translocation - inherited from me (I have balanced translocation) dd has deletion on 5 (cri du chat syndrome) and duplication on 14. Loads of probs in all areas - eyes, ears, brain, heart, lungs, kidneys, hips, hormonal and metabolic stuff (is suspected she may have a completely seperate metabolic disorder - auto recessive genetic thing. Fantastic gene pool me!)
My dd (aged 5) has an undefined genetic disorder - she has had every test going including a microarray test but nothing has showed up. She has severe delay (no speech, cannot sit etc), visual impairment, epilepsy, reflux and hypotonia and hypertonia. She is also as cheeky as anything
Hi every1, thanks for gettn back to me, sad for all yr stories but good to knw I am not only one, but obv sad too
My Dp and me were both checked, and our chromosomes were fine, My dd is from a prev relationship, but my ds is to my Dp of 7 years and also had 3 miscarriages to dp
I am still going thru a hard time gettn my head round Jack's problems
To go pick up his SN buggy on 24th and am ill thinking about it, my darling Jack is also very cheeky!! xx
DD also has a unknown genetic syndrome. She was born with dislocated knees and hips(knees don't bend-no knee cap) Cleft palate, fused joints in her fingers. She has since been diagnosed with scoliosis(curving of spine) epilepsy and dislocated elbows. She can't talk, walk or sit. But is happy and will smile at whoever smiles at her.
We were told we had a one in 4 chance of the same thing happening again. But I am happy to say we have two gorgeous healthy boys.
It is hard and I know what you are going through.
My dd is dead happy and smily also. V sociable. If she likes you, she'll have you tickling / stroking her hand
She can sit and stand with support (like if she's holding onto something / standing against something) We really hope in time she will be able to walk around the house independently using rollator. Realistically, we don't expect her functional mobility to be much more than this, due to her other probs
She has dysphagia and laryngomalacia (swallow probs and floppy windpipe) Due to repeated aspiration pneumonia and also low tolerance of fasting (she goes hypoglycaemic) she has a gastrostomy and has all fluids via this and is fed overnight. She can eat blended food throughout the day. Her eating / swallowing has been getting progressively worse tho She does love her food as well
We are waiting on latest eeg (she had mobile 48 one) re medication for seizures. Agree that this is v scary territory
I've had 4 mc and have a ds (nearly 2) with normal chromosomes
proudestmummyever - tis difficult getting first sn buggy / wheelchair. I think the build up was worse. Once we actually had it I found the advantages of picking getting out of the way / generally being more mindful and considerate far outweighed the sadness
Are you a member of Unique? I really look forward to getting their newsletters and Beverly has been v helpful over the years
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