This expert forum is not accepting new questions. Please post your question in one of our medical support communities.
Avatar universal
13 year old with possible mitochondrial disorder
My 13 year old .  Age  4 he started having terrible leg pain. (not growing pains).  Neurologist told us that he had mild CP,     Then he started seeming like he was in a fog all the time, he would frorget things eyes  seemed glazed. D/X  complex partial seizures. Struggling with his weight , recurrent infections of different kinds.  Affected seizure activity.  
Episodes of memory loss and forget things that had taken him months to learn.  And then never seem to be able to relearn the forgotten information although he could learn new things.  
When he was 10 he weighed only 40lbs.  In and out of hospital  for dehydration, and vomiting,  3 years ago started throwing up everyday sometimes all day long.  For 3 mo.  Found small obstruction on his stomach (SMA Syndrome ).    
Put on an NG feedings.  I was told in 2-3 months  weight would be back up to  normal.   3 years now,   graduated to a G button. unable to maintain a healthy body weight without  tube feedings.  Even though he eats well.  
  Last 2 years developed a wandering eye, characteristics of Aspergers (no official d/x), had 2 kidney stones age 8 and 10 made of ammonia (which baffled the urologist).  
Untill now all of these have been treated as seperate entities.  I took him last week to be evaluated for his learning disability, regression in school (ie can not read and has forgotten most things he learned), and possible Aspergers.  The Dr there kept asking questions about his health issues as if they were all part of one big issure rather than seperate.  She suggested that he might have a mitochondrial disorder and that we have some genetic testing done, .  I came home and read up and some of the information is terrifying.  However I don't want to jump the gun.  I am just wondering if there would be a source where I could get some more reliable information, or if all of this sounded like it could infact be related in some way. Thanks
Discussion is closed
1 Answers
Page 1 of 1
521840 tn?1348844371
   information about genetic abnormalities is scary, but keep in mind that most of the truly scary syndromes are very rare. Genetic testing does not often bring back results that answer many questions about psychological functioning, unless the testing is done to confirm downs syndrome or something else that presents with recognizable physical signs. I would speak with your primary care physician or a developmental pediatrician to learn more about this option.

   I think that the doctor you saw was correct to focus first on the medical issues. A child who has been through as much as yours is at higher risk for having learning problems or delays. You would not want someone to jump to a conclusion about a psychiatric diagnosis without first trying to determine the impact of medical conditions.

    In terms of your son's education, the medical conditions will probably have less to do with how he is educated than his actual performance in school and on psychological tests. Given his complex presentation, your son should have a neuropsycholgical assessment by a board certified neuropsychologist.  Pediatric neuropsychologists tend to work in hospitals and sometimes in private clinics. They have special training in medical issues. Neuropsychological testing will reveal his strengths and weaknesses, intellectual ability, how he learns, and provide information about instructional approaches that are most likely to benefit him. Diagnosis is less important in the school setting, as long as your son is determined eligible to receive the kind of services that will allow him to make progress. To learn more about how special education works, check out the site www.ldonline.org. This site has a very nice summary about special education law, policy and how to advocate for your child's needs.

Best Wishes
Rebecca Resnik
Discussion is closed