loudlass
Junior Member
Registered: 02/05/10
Posts: 4
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| | 02/05/10 at 08:28 PM | Reply with quote | #1 |
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I was pointed here by someone on another forum in the UK after describing the symptoms in my family. The very basics are that my mum's mum was dxd with low muscle tone, My Mum was dxd with low muscle tone, My mum's brother was dxd with low muscle tone, My brother was dxd with low muscle tone & hypermobility Syndrome, My daughter was dxd with low muscle tone & hypermobility syndrome (at 9months old!), my middle son is fine, but my youngest sone is more severely affected that any of the rest of us. He was dxd with low muscle tone, hypermobility syndrome and hypotonia at 7 months old. In all of our family, our problems were picked up at birth. My mum thinks that HER mum's mum was similarly affected, but not as badly as my brother or certainly nowhere near as bad as my children. I have read on your home page about the other symptoms, and I burst into tears. My mum constantly falls asleep, but her sleep pattern is odd. I'm the same. I can't believe after 12 years of searching for what is wrong with my daughter I am sure that I have finally found the answer. How do I go about getting a test done on my children in the UK? This is all a bit garbled, but I'm reeling.
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loudlass
Junior Member
Registered: 02/05/10
Posts: 4
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| | 02/05/10 at 09:41 PM | Reply with quote | #2 |
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The more I read on here the more convinced I am. I do have a question though. Is Autistic type behaviour possible with myotonic dystrophy? I ask this because although my nan, and my mum don't seem to have this, my uncle has had an adult diagnosis of Aspergers syndrome, my brother was diagnosed with Aspergers syndrome at 6 years old, my daughter had an 'informal' diagnosis of autistic spectrum disorder at 4 years old, and the youngest of my two sons is also believed by various healthcare proffessionals to be on the autistic spectrum. It just seems odd that the worse the muscle problems are in my family, the worse the autistic spectrum behaviours seem to be, which is why I've had such problems trying to find out what is wrong with us all. All the paediatricians we have seen between us (too many to count by now) kep telling me and my mum that there is no link between the muscle problems we have and the high incidence of asd's in our family. I wondered if there would be any connection with myotonic dystrophy.
Some of the other problems we have are : my mum (46 years old)- recurrent iritis and ulcerative colitis. LOTS of skin problems. allergies that increase with age. Terrible sleep 'attacks'. Heart murmer (cause not known). Allergic to general anasthetic and pethdine and diamorphine.
Me - epilepsy, presenting in a very unusual way, uncontrolled by medication. HUNDREDS of allergies ranging in severity from hives to full blown anaphylaxis. Always been bendier than most people until 4 years ago when joints developed often agonising pains. Extreme tiredness at odd times of day. IBS.
My brother 18 years old- aspergers and extreme sleepiness (he's only 18 years old, often sleeps for 14-16 hours at a time)
My daughter 11 years old - two leaking heart valves, one at the top of her heart, one at the bottom. asd. learning difficulties. global development delay. Partial deafness, increasing with age. speech and language delays when younger. constant ear infections, even now, not as bad as when she was younger, but when she was birth to age one, she had SEVENTEEN ear infections. repeated bursitis in her knee started when she was 10. met all her milestones VERY late.
My middle son 7 years old- not affected by the muscle problems, but has been diagnosed at 7 years old as severely coeliac. And has in the last 6 months developed an allergy to penicillin and amoxycillin.
My youngest son 6 years old- constant respiritory infections, on prednisolone 3-4 times a year minimum. Has been diagnosed with chronic asthma, I don't think thsat diagnosis is correct. global development delay. worst of anyone, didn't walk until he was 3.5 years old, didn't say his first word until a month later. speech and language delay. weak grip to the point that he cannot do any writing at all. is so weak he struggles to manage a very short walk. Proprioception problems. Sensory issues. pain in muscles. allergic to latex, bananas and kiwi.
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loudlass
Junior Member
Registered: 02/05/10
Posts: 4
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| | 02/05/10 at 09:53 PM | Reply with quote | #3 |
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Some other things I forgot. My daughter was not 'clean' until 7 years old, and at almost 12 years old (her birthday is in a month) she still has daytime accidents about 4 times a week, and is wet most nights. My area doesn't have access to an enuresis clinic. And also my 7 year old son without the muscle problems has an unidentified form of dermatitis. Would any/ all of our symptoms be to with myotonic dystrophy? It just seems to present in different ways with each person in our family, all these problems, some are the same, some are different, so the geneticist I saw through the NHS 4 years ago refused to even do any tests (although at that time, I had no clues as to what was wrong). |
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pookie
Senior Member
Registered: 03/10/09
Posts: 16
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| | 02/08/10 at 07:33 AM | Reply with quote | #4 |
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Hi Loudlass.
when my wife was first diagnosed with DM she did so by being referred from her G.P. to the national hospital for Neurology and Neurosurgery in Queen square London WC1N (nhs). who carried out all sorts of tests and stuff (and are still carrying out more!)
I really do hope your search for answers is finally coming to an end..
Best wishes.
Pookie
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bubsylishlosh
Junior Member
Registered: 01/25/10
Posts: 2
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| | 02/08/10 at 12:20 PM | Reply with quote | #5 |
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Do the hand squeeze test - on yourself and partner. One of you would need to carry the gene for DM. Basically squeeze the other persons hands as hard as you can then when the other person says now, release your hands from sqeueezing. If your hands take a while to relax it could be DM....though this is just a common affect of DM so dont base everything on this.
Ask to have yourself or partner tested for myotonic dystrophy at your local GP or ask to be referred to the Hospital. It sounds like quite a lot of issues so id assume you would have been for tests at doctors/hospital where you might expect them to pick up on myotonic dystrophy....
..Anyway, if you or partner are diagnosed you can get the children tested as they have severe problems. Usually they dont test children until they are 16+ unless problems are showing (which they are).
It sounds like there is a lot of problems on the children which means that if you have DM It would likely have been passed down from female.
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loudlass
Junior Member
Registered: 02/05/10
Posts: 4
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| | 02/08/10 at 09:13 PM | Reply with quote | #6 |
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We all have this grip release problem. Not My partner, but the rest of us older ones, and my daughter and youngest son do. Haven't tried my older son though. The only test that's ever been done was on my daughter for fragile X which came back negative, but that was 8 years ago. We saw a geneticist at my local hospital 4 years ago, but she just said that the children didn't look like they had a genetic problem so she didn't do any tests. I would imagine anything would have been passed down from my mum and her mum, and we can trace some possible problems back to what would be my great-grandmother. Which would be 5 generations with my great-gran having muscle problems (walked with a stick from early 20's), 2/3 in my nan's generation having problems, both my mum and her brother having problems, both me and my brother having problems but quite a bit worse than my mum or uncle's, and all 3 of my children having problems of some sort, even worse than me and my brother. I haven't always had the hand thing, It started after one of my seizures (I have atonic seizures and can't remember the name of the 'muscle flickery' ones) about 2 years ago. It took me 3 months to be able to hold a pen again, and ever since then, my grip has been very very weak. I can't write more than a one-line message without pain in my hand, I tend to type (very oddly, not how I was taught, I was taught to touch type, and now just use my two index fingers). |
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