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SMA II |
| Three months ago our 17 month old little girl was tested, among other things, for SMA. The results came back negative. She is totally imobile although she can sit up. Not able to roll or sit herself up, let alone crawl, puul her self up or walk. She wont even weight bare. I was wondering if anyone else had a misdiagnoses before finding out their child had SMA. When i read about the condition its as though it was written about our little girl. Any advice would be very gratefully received. |
| Posted: Tue Jun 10, 2003 11:43 am |
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Re: SMA II |
| In your email you don't say what type of test your daughter had. The usual method of testing for childhood onset SMA is a Genetic Blood Test. These tests are extremely reliable and although nothing can ever be absolutely 100% reliable, it would be exceptionally rare for a misdiagnosis by blood test. I realise it must be very difficult to not have an accurate diagnosis for your little girl and perhaps it may be worth discussing again with your Doctor - referral to a genetic cousellor would perhaps give more information about the statistics for error in genetic blood testing. In your question you also do not mention whether you have had a referral to a Consultant Paediatrician. If not they may be able to help further with your explorations. I hope your further expoloration help you find the answers you are looking for. |
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| Wed Jun 11, 2003 10:50 am |
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Re: Re: SMA II |
| Thanks for your reply Tim. Phoebe had a genetic blood test. We have been refered by our consultant paediatrician to see a neurologist at addenbrookes. Phoebe is now coming up for 20 months and there has been no change in her. She is so bright and can talk and plays very well but has no mobility. Whenever i try to find possible condition i always come back to sma!! Of course i would not wish that this was the diagnosise but it seems to be all i come back to time and time again.Do you know of any conditions that are similar in symptoms to sma that i have maybe over looked? Thank you very much for your time i feel as if im banging my head against the metophorical wall!!! |
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Re: SMA II |
| Hi my name is Vivienne. I have been tested and so has all my liveing relatives including my granmother who passed away 6 monthes ago. I live in Austrlia and the Concord Hospital can not still diagnose what I have, yet an orthopedic surgeon did he has operated on my feet at least 12 times in my life. I have had scince the age of 4 and I am now 30 with two very healthy children. I have had numerous surgery includeing bolts, artificial tendons, lengthining of tendons, toes all broken due to hammer toe, arch collapsed, total drop foot, I can still go rock climbimg, rum, I do weights at the gym and roller blade. I have still not been diagnosed with CMT but I obviously have it yet it is not in my blood line. |
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Re: SMA II |
| My daughter has SMA II. She will be 21 in June and at the age of 11 months she went through all the testing at this time they didn't do blood tests and one test said nothing was wrong with her then one test said she had ALS. Then she went for a muscle biopsy and that confirmed SMA. So yes at times you can get wrong diagnosis. |
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