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Listing Questions 1 to 10 of 18 |
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Thu Dec 18, 2008 5:49 pm |
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Greetings to all! I'm posting in at least one other section of the forum because I'm not sure where it belongs - I'm really not trying to hog space!
My primary purpose for writing is to ask if anyone has any information on SMA and strokes. Angie Wright (SMA 2) suffered a stroke in April and has given me permission to post to see if there is anyone else with SMA who has shared this whammy of a predicament. You can read about the stroke in the last entry in her journal - http://www.nof49.ca/angie/basicbio.html. Needless to say, the doctors are in a double quandary here, and to say she's feeling discouraged is a gross understatement. If anyone has experience and/or information about SMA and strokes, please send a note to Angie - angie@nof49.ca. Notes of encouragement would be most welcomed, too, especially since her 44th birthday is Sunday, Dec. 21!
While I'm here, I'd like to remind folks to submit a name for the special dedication in The Jeffrey Journey (for more info about the book, don't hesitate to ask!). I have received permission for over 1000 names in the next revision; this will help raise awareness that SMA is not quite as rare as most of us were led to believe, but it is just a small representation of this incredible family. If you have not yet submitted a name, please consider doing so. All I need is the name as you would like it listed, including a nickname if desired, and whether it belongs in the 'honor' (living) or memorial section. If you have some sort of network with other SMA families, please share this, as no matter how hard I try, I will never be able to reach everyone myself! There are no restrictions, such as number of names submitted, dates, ages, location, and don't forget to submit your own name if applicable! Thanks so much.
Finally, I periodically email an update of SMA news, announcements, projects, helpful sites, etc., that might not reach folks otherwise. There is always so much going on! If you would like to be added to the list, just send your email address.
Happy, safe holidays and a terrific, healthy new year to all -
Helen
jeffreyb@skybest.com |
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Wed Nov 19, 2008 4:36 pm |
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| Fri Nov 28, 2008 6:25 pm |
| Siobhan |
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I have a baby girl who is nearly 6 months old who has just been diagnosed with SMA the doctor we are seeing is unsure if she has type 1 or 2. He said we need to see if she sits up and then we will know. She feeds well and is on solid food twice a day has had no chest infections and has had a cold recently.
Her movement is weak more arm movement than leg. she can also hold her head up although struggles after a while.
I just wondered if anyone has been in a similar situation and can give me some advice? |
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Wed Feb 13, 2008 10:45 pm |
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| Wed Nov 5, 2008 2:42 pm |
| claire marsden pugs |
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I was diagnosed last year with Distal SMA at the age of 44.
Although the diagnosis came as a shock, it seems that I'm relatively 'lucky' if I can put it like that. My symptoms at the moment are primarily a weakness in the lower legs and feet, which doesn't stop me walking, but does make walking difficult and tiring. My ankles are pretty weak and floppy.
My Consultant and GP both think I've had this for many years, but that the deterioration in my muscles has only recently got bad enough for it to start causing me a problem. As regards a prognosis, their best guess is that the progression will continue to be very slow, but it is just a guess.
I'd be really interested to hear from anyone else with Distal SMA. It seems that no two cases are exactly alike, but I'd appreciate hearing about how others have found ways of coming to terms with the condition, both from a practical point of view and also mentally. |
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Mon Dec 17, 2007 2:33 pm |
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| My daughter was diagnosed with Kugelberg-Welander 20 years ago at 14/15. She had very suddenly become very weak in the legs and arms. She could not get up from a sitting position nor haul herself out of the swimming pool. After the diagnosis we saw a geneticist who took one look at the notes and said he thought it highly likely this had been a misdiagnosis as the various consultants were unlikely to have seen a case. So we left it at that and she began to improve. I had a few words with researchers at the university I worked at then and this improvement seemed unlikely if it was KW. Anyway now she is pretty well OK but does still seem to be weaker in arms and legs than "normal" and gets very tired. Also we both used one of those leaf hoover things and her arms were tingling and quivering after quite a short while where I had no such effect (I´m nearly 60) after a lot longer. She doesn´t feel the need to get a new diagnosis but I was curious if anyone here recognised this series of events especially as she now has a son and would like another child one day. Thanks, Anne |
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Thu Jan 18, 2007 5:17 am |
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| is this a form of md ? |
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Tue Apr 11, 2006 10:01 pm |
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| Mon Mar 3, 2008 1:57 pm |
| Lindsey |
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| Our son is 13weeks old and we are awaiting test results for SMARD.Jack was induced at 41wks+2 because of reduced movement and measuring small.When he was born he wasn't breathing or had a heart beat.He was ventilated immediately and 12 hours later put onto CPAP which he stayed on for 35days in intensive care.He has now been home with us for 7 weeks with a suction machine which is used regularly and all feeds are via an NG tube.Since he's been home he's had three colds and the last one seems to be worse and hanging around longer than the previous two. We've had SMA,prader-Willi,myotonic dystrophy and all metabolic,organic and amino acid tests back as normal. Does this sound familiar? We have read so many things and it breaks our hearts to think that we may lose our beautiful little boy before we have had any time with him.Any information anybody has would be really helpful.Thank-you |
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Sat Apr 1, 2006 3:36 pm |
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| Mon Apr 3, 2006 12:34 pm |
| Heather Tingey |
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| My 13mth old has left knee hyperextension and I'm unclear as to what is the right course of action... Orthodics, my regular pediatrician, ?? Where do I start. She walks a lot but falls a lot too. I believe it's because of the hitch in her gait, as a result of the knee HE. |
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Sun Nov 20, 2005 8:11 pm |
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| Sun Dec 4, 2005 6:10 pm |
| Emma |
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My five year old son has has hyptonia/muscle weakness since birth - mostly noted in his hip girdle area. It wasn't really apparent until he got to the walking age because he met sitting and crawling pretty much on time - he pulled up around 12.5 months and started walking at 16 months. His gait was abnormal though - he had lordosis and knee hyperextension. He still uses a modified gowers manueuver. He gets up from a squat with and without hands(depending on how tired he is). At five years, he runs slowly, jumps(not very high),hops, and still has difficulty with stairs- he can do it without hands but very hard and really does need the support for it (especially ascending). He still does them one step at a time and with his left side.
He also has some oral motor and jaw weakness(since birth) and can now chew and eat pretty well but it's taken him lots of therapy to get there.
Does this sound like SMA III? He has a normal CPK, myopathic EMG, and a biopsy that showed neurogenic changes and some myopathic changes - so they don't know what he has! The more I read about SMA III, the more I think it fits him.
I'm thinking I should ask the doctors to perform a gene test.
Thanks
Jen |
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Tue Dec 14, 2004 11:03 am |
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Hi I'm Italian, so sorry if my English is not very good. I had the diagnosy of SMA II at two years old. Now I'm 29, I haven't ever walked and always have used a wheelchair. However the problem is not me: this is my life, the illness is a part of me.
My greatest concern is my sister. For whole my life me and my parents have always thought my sister was okay even if she didn't make dna test.
She's 32. Sixteen mounths ago in order to have a baby, she made a lot of exams... and they found out from dna she's affected. It was as a bomb for my family. I'm so worried a day she'll show first signs of sma... Now she is good and have no signs: no fatigue, no cramps, nothing. And she's pregnant (thank God baby is good). Doctors said she has III or IV type, and that the signs will show soon. They said this nearly one year and a half ago.
I just want to ask if PLEASE there's someone who was diagnosticated with SMA at 32 but still has no signs, and when the first synthomps appear.
Thank so much and sorry for my not so proper language.
Abby |
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Mon Aug 16, 2004 1:10 am |
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| Thu Nov 4, 2004 9:01 pm |
| Ali |
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The doctors are currently trying to work out what is wrong with my 4 year old daughter, and after reading the information on this site, I am begining to wonder if I have found the answer. As a baby my daughter never rolled or crawled, though had no problems sitting or pulling herself up to standing. We never had the hard scrawling of crayon stage, every mark she made on paper was very light. Daisy has always been extreamly intelligent though intellegence tests showed she was slightly behind on her physical development. Although Daisy does climb she find this scarey and she often gets stuck, and seems unable to work out what she should do next, she wont jump off things, even a kerb again very scared, and when she does she lands straight legged. Daisy could never get herself on or off ride on toys, and is not able to move herself much, or steer them, she certainly can't peddle a trike or even keep a three wheeled scooter upright. Daisy always goes up and down stairs slowly with both feet touching every step, and she has to hold on, even the smallest of steps. Daisy appears to have a strange gait when running (bum sticking out) and is very slow. Her self care is very poor, even unable to tear toilet tissue or squeeze toothpaste. The peadiatrician said she was very floppy and she does have very poor upper body strength (unable to push a needle through a dead leaf, or press the keys of a piano). Daisy enjoys dancing though she is always behind everyone else. Eating is a trauma, she eats very little, and it takes forever and she suffers with constipation. All the doctors were amazed when the tests for muscular dystraphy came back negative, and it appears not to be dyspraxia. Does this sound like SMA III can anyone help?
Mish |
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