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Can someone give me some advise regarding my 17 month old son please ...........
My Son is 17 months old and can not pull himself into sitting can not crawl can not take any weight on his legs, he can sit up if put in the position but slumps to one side and he is about the size of a 9 month old. He is a very happy little boy but is sounds very chesty all the time yet every doctor has said his chest is clear ! He can roll over but that is it and when you lie him on his back he looks like his upper body curves to one side and he struggles to poo by himself like he has no sensation to go but as soon as you stimulate the area he goes. i am still awaiting a diagnosis and answers and i don't know what to do as the paeds seem to be dragging their heals with tests and help. I don't know what to do anymore.
My son who is 19 now was suffer from severe pain in his hip flexions and across his pevlis and low back since he was 14.... Doctor said he had more wear and tear in is back than they had ever seen in a child of 14. He was some pretty heavy meds. His CK is extemely high, protein is very high AST and V-D and TSH... he's off balance, he has brain fog. He has muscle disease. He had a muscle biospy done about 3 months ago and doctors found an increasing number of red ragged fibers and which indicates Mitochrondrial disease. It's maternal with the mtDNA..I am a carrier but have symptoms, so we are going to meet with a genetic counselor. We both take Idebenone which is superior over Co-Q 10 with no known side affects. It take the edge off the nerve pain and improves my memory which was helps to separate your thought a little better. It helps us with my chronic fatigue. There is just so much to it. He goes to college and see doctors in Philadelphia which have one of the best hospitals in the world for this. Good luck and don't give up. I stay in touch with the foundation in hopes there will be a chapter here in Allentown for the Mitochondrial foundation.
My son now 19, has mitochondrial disease, looking at MELAS or MERRF. He attends college in near Health Systems at Univ of Pennsylvania with is the best hospital in the country for Mito Diseases/Disorders. They found more information there that was accurate in 5 months than in another hospital north of phili did in 5 years. He has been on every kind of muscle relaxer anti seizure and pain medicine one can think of and he could not function. Now he is on just a straight medicine that helps him ot get through the day and be successful in college. He is going into pre-med program... to research these mito genetic problems. I'm proud of him.
He goes for blood work every 12 weeks, to check his levels such as protein which is 3 times higher than normal, Creatinine is 5,000-6,000 with about 400 being the maxium on the ranges. He is off balance like he could trip and catches himself, he can sleep for 12-14 hours, because he does not break down protein. It's the mtDNA mutated gene that always comes from the mother. My older son is not affected. Exercise intolerance, muscle cramps, typical of muscle disease. I have very simliar problems and in tremendous pain with my joints/muscle disease and memory issues under 60 yr old. It's more recent and I have reached the crosswords so now it's time to meet with the geneticist at Penn Health Systems, which is about an hour from us. My son is only 2 minutes away. Any Mito problems, go to this hospital campus but see the geneicist in the children's hospital. They do see adults after you have all your tets and bloodwork done. Speak to your doctor. Boston area also has good doctor for this if you live near there and three hospitals in California if you are on the west coast. We need more people involved to involve more doctors to take action. Some insurances now started recognizing there health issues. you can also go on the site for information. The Mitochondrial Foundation or the Mito action.org. Hope this helps, don't wait to get a diagnois.
He goes for blood work every 12 weeks, to check his levels such as protein which is 3 times higher than normal, Creatinine is 5,000-6,000 with about 400 being the maxium on the ranges. He is off balance like he could trip and catches himself, he can sleep for 12-14 hours, because he does not break down protein. It's the mtDNA mutated gene that always comes from the mother. My older son is not affected. Exercise intolerance, muscle cramps, typical of muscle disease. I have very simliar problems and in tremendous pain with my joints/muscle disease and memory issues under 60 yr old. It's more recent and I have reached the crosswords so now it's time to meet with the geneticist at Penn Health Systems, which is about an hour from us. My son is only 2 minutes away. Any Mito problems, go to this hospital campus but see the geneicist in the children's hospital. They do see adults after you have all your tets and bloodwork done. Speak to your doctor. Boston area also has good doctor for this if you live near there and three hospitals in California if you are on the west coast. We need more people involved to involve more doctors to take action. Some insurances now started recognizing there health issues. you can also go on the site for information. The Mitochondrial Foundation or the Mito action.org. Hope this helps, don't wait to get a diagnois.
Just a quick up date my consultant rung me tonight with the results of his mri and due to lack of oxygen in his brain at birth he has been diagnosed with hypertonia cerebral palsy so we are now increasing physio but it has caused increased muscle tone in his legs so we wont now how it will effect his legs until he decides to walk or not but at the moment he cant use his legs but will keep you updated as we progress thank you all for listening it helps to let off whats playing on my mind x
hi all thank you all for your messages and cead thanks for being rude when i was asking for advice i have we have been pushing and i been doing everything i can for my son but i am also governed by our consultant as to what tests etc he will do we have now had an MRI last week which we are awaiting results we start physio in the 1st week of september aswell as diatetics speach therapist and community neurology so we are getting there so hopefully all the pieces of the puzzle will come together but at least we will have some answers soon
Alineg111,
Hello. I had similar symptoms (and dislocating hips) when I was around your son's age - 27 now. My parents also fought with doctors and eventually, after seeing many specialists and undergoing a muscle biopsy, I was vaguely diagnosed with a skeletomuscular mitochondrial disease. I still don't have a clear diagnosis as mitochondrial diseases vary on almost a patient-by-patient basis.
Until your son has seen specialists and has a concrete diagnosis, keep fighting with the doctors. Wishing your family the best, MS
Hello. I had similar symptoms (and dislocating hips) when I was around your son's age - 27 now. My parents also fought with doctors and eventually, after seeing many specialists and undergoing a muscle biopsy, I was vaguely diagnosed with a skeletomuscular mitochondrial disease. I still don't have a clear diagnosis as mitochondrial diseases vary on almost a patient-by-patient basis.
Until your son has seen specialists and has a concrete diagnosis, keep fighting with the doctors. Wishing your family the best, MS
harsh words..but most definitely true.....i wish i had that kind of input 20 years ago...please listen to the advice..fight for your child..doctors arent always right...best of luck to you xxxx
Alineg111,
How can he be "100% sure" if he has not done complete testing and has not referred your son out to specialists? Or ruled out all other common and not so common possible diagnoses by comprehensive testing?
CP is an old garbage can term often used for lack of a more specific diagnosis.
his abilities are extremely delayed for 17 months
Lisaob1 told you what you need to do. Listen to her because she is right.
You need to be proactive in your child's medical care. You do need to scream until you are heard. Where has being "nice" gotten your son so far? A doctor needs to stand up to the plate and take an interest in your son as a patient
If your son is so delayed you need to start demanding some proper testing.
Since you did not indicate which specialists nor which tests he has had I will not add my 2 cents worth on that matter
good luck
cead
How can he be "100% sure" if he has not done complete testing and has not referred your son out to specialists? Or ruled out all other common and not so common possible diagnoses by comprehensive testing?
CP is an old garbage can term often used for lack of a more specific diagnosis.
his abilities are extremely delayed for 17 months
Lisaob1 told you what you need to do. Listen to her because she is right.
You need to be proactive in your child's medical care. You do need to scream until you are heard. Where has being "nice" gotten your son so far? A doctor needs to stand up to the plate and take an interest in your son as a patient
If your son is so delayed you need to start demanding some proper testing.
Since you did not indicate which specialists nor which tests he has had I will not add my 2 cents worth on that matter
good luck
cead
got everythin crossed huni..best of luck and best wishes...keep postin.and keep positive..xxx
went back to the GP today who is 100% certain that he has moderate cerebral palsy and has written and phoned again to the Paeds demanding an MRI scan and he has told me that if i havent heard by next week to come back and he will ring again. SO fingers crossed he something will be done soon x
hi..one thing i have learnt is that a mothers instinct is always right...there is no other way to fight it than to keep pushing and pushing for answers..if they are snotty..be snotty back..do not give any reasonable time frame anymore..you have done enough...my only advice is keep pushing...and you will be heard...do not be fobbed off..keep fighting and keep pushing huni.....make sure u get tests done..through your gp...consultants or any alike..anyone ...i wish i could be of more help..but just keep fighting and pushing..someone will have to eventually listen...i wish u so much luck love xxxxxx
HI thanks for your comment i'm in the UK in north east essex and i have been on the phone to our consultants secretary 5 times since monday and he finally rung back today to say that different appointments were in the post to me but sounded very snotty with me that i dare phone !!!!!!!!! i think giving them from march until now a very reasonable time frame to do the tests they need to do ! !
hi you most definitley need to push and push for answers..i think you know yourself this is not normal for your sons age...and to be honest i find it hard to believe that your not gettin the correct help and support off your doctors..i dont know where you are from or how your medical system works but it is without a doubt not right..although your son may have problems if your doctors get off ther backsides and help you then maybe they can be resolved and supported in some way....you are right to question these medics.and demand answers...wishing you luck..keep posting xx
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