Discussions By Condition: Medical Stories

Unknown diseases wasting our children.

Posted In: Medical Stories 2 Replies
  • Posted By: gumashaa
  • March 18, 2008
  • 09:01 PM

Dear Forum,


Two weeks ago me and my wife we took our 5 Months baby boy to see a paediatric consultant and after several check ups the consultant told us the boy has development delayed symptoms. My wife almost fainted and i was paralysed for a few minutes. This is because we have a daughter who is disable with no diagnosis. The boy has almost the some symptoms as our daughter, Including; Green stool, rush, white frothy nasal discharge, not holding with hands at this stage, nervousness/jumpy in his sleeps, rigid hands, had rush when 2 months old, his head feels very hot when he is playing, poor head control, sometime very strong and rigid etc.
Our daughter's History;Born 2 weaks overtime. Immediately treated with light therapy. About two months she developed simple rush all over her body. Doctors told us it will disappear as this is common with babies and is not dangerous. The rush disappear about 3 weeks.
She developed flue symptoms after the rush with white frothy nasal discharge which lasted a while.
-From birth she was not feeding properly and breast feed was stopped about 4months old.
-Her stool was green for many months.
-She cannot control her head. She cannot touch or hold anything with her hands from birth.
-She has strange behaviours which include; Sudden laughter’s and giggles, sudden cries and smiles.
-At times she becomes very strong and can hold her head in hours. After that she falls asleep and sometimes screams.
-Her arms were rigid and were difficult to bend from birth.
-She has Buffy hands which are closed most of the time except when she is sleeping.
-The sweat from her hands has strange perfume smell.
She is totally bedbound and cannot do anything for herself now.
She is quite tall with long legs which are becoming deformed now and her feet are buffy since birth.
Diagnosis; All test are normal including; EEG, MRI, CT, EMG, DNA, MUSLE BIOPSY, BLOOD TESTS, SLEEP TEST FOR OXYGEN LEVELS, Ph tests.
Doctors have given up now and they have no idea what is wrong with her. She had two fundoplication gastro operations which were unsuccessful because she vomits too much. She now vomits thick mucus gum like.
we have given hope for any future diagnosis for our daughter.
Now this with our baby boy. We feel this is the end of the world for us and we have no more strength to go on.
We appreciate if there is any body out there who can tell us what is wrong with our children.

Best regards
Gumashaa

Reply Flag this Discussion

2 Replies:

  • Gumashaa it sounds very much like your children have what is called an inborn error of metabolism (IEM), where common foods or their constituents can cause brain damage. These conditions can often be treated with special diet and/or high-dose vitamins. You need to find an IEM specialist to work out a which disorder it is - there are many different ones.
    Cathyvm 107 Replies Flag this Response
  • Dear Forum, Two weeks ago me and my wife we took our 5 Months baby boy to see a paediatric consultant and after several check ups the consultant told us the boy has development delayed symptoms. My wife almost fainted and i was paralysed for a few minutes. This is because we have a daughter who is disable with no diagnosis. The boy has almost the some symptoms as our daughter, Including; Green stool, rush, white frothy nasal discharge, not holding with hands at this stage, nervousness/jumpy in his sleeps, rigid hands, had rush when 2 months old, his head feels very hot when he is playing, poor head control, sometime very strong and rigid etc. Our daughter's History;Born 2 weaks overtime. Immediately treated with light therapy. About two months she developed simple rush all over her body. Doctors told us it will disappear as this is common with babies and is not dangerous. The rush disappear about 3 weeks. She developed flue symptoms after the rush with white frothy nasal discharge which lasted a while.-From birth she was not feeding properly and breast feed was stopped about 4months old.-Her stool was green for many months. -She cannot control her head. She cannot touch or hold anything with her hands from birth. -She has strange behaviours which include; Sudden laughter’s and giggles, sudden cries and smiles. -At times she becomes very strong and can hold her head in hours. After that she falls asleep and sometimes screams. -Her arms were rigid and were difficult to bend from birth.-She has Buffy hands which are closed most of the time except when she is sleeping. -The sweat from her hands has strange perfume smell.She is totally bedbound and cannot do anything for herself now.She is quite tall with long legs which are becoming deformed now and her feet are buffy since birth.Diagnosis; All test are normal including; EEG, MRI, CT, EMG, DNA, MUSLE BIOPSY, BLOOD TESTS, SLEEP TEST FOR OXYGEN LEVELS, Ph tests. Doctors have given up now and they have no idea what is wrong with her. She had two fundoplication gastro operations which were unsuccessful because she vomits too much. She now vomits thick mucus gum like. we have given hope for any future diagnosis for our daughter. Now this with our baby boy. We feel this is the end of the world for us and we have no more strength to go on. We appreciate if there is any body out there who can tell us what is wrong with our children. Best regards GumashaaDear Gumashaa,I know what you re going through right now, because i have a very similar situation. My son also has a non identifiable disease. He is 2 years now and cannot grasp, nor sit, etc. Many symptons appear to be the same as from your child. All medical results were good... still no explanation for what is causing the developmental delay.If you like we can talk about this and maybe exchange experiences.May God Bless you
    doh007 1 Replies
    • February 16, 2009
    • 08:43 PM
    • 0
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