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Post by Teresa on May 16, 2009 16:31:10 GMT -5
Hello, I was just wondering if anyone could help me out I have a few concerns. My son who is 12 has JNCL and in the last couple of months has started stuttering he cant seem to get the words out then it is like he spits them out all at once. He falls a lot and when he is just standing he leans back wards. I have noticed they started out happening in the evening time when he would get sleepy but now they are happening more often through out the day. He goes days with out eating then I can't fill him up on other days. I was just wondering if anyone else has experienced this to all at one time it seems like a lot all at once for him to be going through. Oh he is always saying his head hurts does a lot of pain come with this disease?
Teresa
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Post by corrina on May 17, 2009 13:08:26 GMT -5
Hello! My son is also 12 with JNCL. He does not stutter but he often searches for the right word and slurs his words. This has been happening in the last year. He doesn't fall but his stamina is poor. He gets to a point where he can't stand or walk and he will stop and sit, even if its on the ground, this also has gotten worse in the last year. His appetite is still quite good. He has complained in the past of pain in his arms and legs. He has only rarely had head pain. His arm and leg pain has been going on for years now.
It seems that sometimes symptoms can come on suddenly and several at once too. I would recommend ibuprophen when he has pain. See if his falls happen more often when doing lots of activity and try to plan for frequent breaks. You might try enticing him with his favorite foods on days he doesn't want to eat.
Corrina
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Post by Teresa on May 17, 2009 17:57:30 GMT -5
Thank you, I do give him ibuprofen and as far as sitting he is like the energizer bunny he is constantly on the go wont sit for only a few min. at a time and I have tried everything to keep him in one place. On the days he wont eat nothing works I have tried everything. His doctors say we will just watch his weight but he is a bean pole as it is he cant afford to lose any wieght. We have only experienced the vision lose , behaviors and gram-mal seizures and they came one at a time so this hitting him all at once is all new to us.
Teresa
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Post by corrina on May 18, 2009 7:48:30 GMT -5
Its tough if they don't want to rest. Mine is probably a bit too much of a couch potato. Have you tried those ensure shakes on days he doesn't want to eat? They come in a variety of flavors and have a lot of calories. They might prevent him from losing weight.
For us the vision loss came first with behaviours gradually creeping up during the next two years and petit mal seizures at the same time the behaviours got bad he also had short term memory loss. He seemed to level off for about a year and then lost some gross motor skills. Then he leveled off for a couple of years and then he started with the slurring of words and the stamina issues.
Corrina
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Post by Teresa on May 18, 2009 9:56:44 GMT -5
The vision problems started at around 5 with being diagnosed as farsighted then at age 6 he needed stronger glasses then 7 Macular Degenerative and at 8 Retitins Pigmentosa. Around 7 is when we started having behaviors and I just thought it was from losing his sight. At first they came on slow then got really bad around 9 then slowly decreased around 11 At age 10 he started having petit mal seizures and a couple of months before he turned 12 is when he had his first grand mal seizure. So we have always had a change each year. It has only been around 6 months since the grand mal seizures started so I thought we was in the clear for a few more months.
He does drink ensure on those days it does take him all day to drink one. He takes a multi vitamin also daily.
Teresa
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Post by nolansmom on May 18, 2009 12:40:27 GMT -5
My son has LINCL, but some parts of your question sound very familiar. When he first started having "drop-seizures" we thought he was just losing his balance and falling backwards and sometimes forwards. He kind of fell over like a tree. These were the second seizure types that we saw after the the Grand Mal. At first they tended to come around the same time each day. Some days Nolan doesn't want to eat and others he will eat all day. I think it is partly from his medications and the disease itself. Nolan can no longer talk, but when he started to lose this ability, it was almost like he would forget which word he wanted to say. After he said something wrong, he would shake his head and say "Nooooo" then try to correct himself. After a brief bit of this, he started to only repeat the last word he heard. And now, he can't talk at all. When his ataxia first started, he would trip over his own feet or fall when climbing off the couch or a chair. This disease is a stinker.
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Post by Teresa on May 18, 2009 14:46:04 GMT -5
When Isaiah falls it is like he tripped over something and his legs just shake and wobble and he tries to get his balance back and sometimes he can but most of the time he ends up falling. So far he has not started leaning forward. When he leans back wards it looks like a tree the wind is blowing. To get up from a setting position is hard for him sometimes. He does do the shuffling walk sometimes when he first starts off.
Teresa
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Post by nolansmom on May 19, 2009 14:57:50 GMT -5
Nolan never did the shuffling...we noticed he started walking on his tip-toes with his left foot. I thought his shoes were too big, but he was still doing it after changing them. He never did run quite right. His left arm was always held into his body and he had kind of a little hop in the middle of his strides. Eventually the tip-toes started to more like his ankle pushed outward. Even now, when we hold him in a standing position, the left foot is on tip toes with the ankle pushed out. Nolan had so many bumps and bruises from his drop seizures. He would hit his head on tables, chair seats, the toilet, the sink, the floor...even the front steps. I guess now that he can no longer walk, that anxiety has lessened for us...we know he can't gash his face anymore.
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Post by Teresa on May 19, 2009 21:20:19 GMT -5
Isaiah's legs is what gets the worse so far. He did bust his lip one day on the cabnit. My poor dad gets so nerviuos around him. He thinks we should catch every fall. He has a doctor app. Thursday and the doctor does not always understand the changes Isaiah goes through so it should be fun.
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Post by corrina on May 19, 2009 23:22:15 GMT -5
We've gone through the nervousness of various family members too. Clifford has had several accidents because of his lack of vision. We do the best we can to make sure his environment is safe but I'm not going to stop him from doing regular activities out of fear of him being hurt. Sighted kids hurt themselves everyday too. Fortunately people seem a lot more relaxed now but they've had nearly six years to get used to it.
We've been quite fortunate that all our dr's want to learn about the disease and do their best to help us through each new thing.
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Post by Teresa on May 21, 2009 9:39:34 GMT -5
Well the doctor visit is over but was asked to find a new doctor Isaiah is to complicated for their practice. I was told to find a doctor that deals with autistic children.
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Post by corrina on May 21, 2009 13:59:08 GMT -5
WTH? I'm sorry Teresa. I would call BDSRA and see if they have and recommendations in your area. If you were in Springfield or Peoria Illinois I could give you some. At any Rate Amy might have some or might be able to get you in contact with some families in your state that might have some.
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Post by Teresa on May 21, 2009 19:46:44 GMT -5
I will give her a call tom. Thank you, I have been on the phone all day today trying to get him a new doctor. I finally found one in Oklahoma city at the Children's Hospital that said they would take him and as problems arise will refer me to a specialist. And if they could not treat him they would try and refer me to one that could. His primary doctor that he has had since he was little and now decided it was to much for him to handle said he needed to see a GI specialist but would not even give me a referral.
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Post by corrina on May 21, 2009 21:59:05 GMT -5
That doesn't sound very professional to me. I'm sure Amy will be able to help you.
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Post by nolansmom on May 26, 2009 12:09:43 GMT -5
Hey Teresa - Please let us know if you found a new doc....Nolan has a whole team of doctors that he sees. His primary is a Pediatric Geneticist who also doubles as his Pediatrician. We also have a neurologist, a Physical Medicine and rehab doc, plus the countless other people involved in his care (psychiatrist, dentist, etc)...
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