My son Jacob is 7 years old.  Up until an MRI three months ago we thought he had Mild Mental Retardation.  The MRI showed high levels of NAA.  We are now with UCSF and the journey has been slow.  After three weeks we are still waiting for lab slips to have further testing done.  In the mean time my son isn't sleeping at night, complains of arm and leg pain has speech problems and tells me he doesn't feel good all the time.  I've read all of hte profiles in here and it doesn't seem like anyone in here has a child with the late onset or Juvenile type of Canavan's Disease.  This is what my son would be considered as having.  I'm desperate for some feedback from someone with a child like my son.  I don't know what to do for my son and I feel very inadequate as a parent as I'm sure all of you can relate to.  If there's anyone out there who can relate please let me know. Thank you so much. 

Hi,

Are the doctors testing for Canavan Disease?  I would get in touch with Dr. Edwin Kolodny at NYU he has diagnosed most of the children.  Also Paola Leone.  I don't have the numbers, but I'm sure someone on here has their numbers.  I hope this is of some help.

Brenda, Mom to Nicholas

HI.  I'M SORRY TO HEAR THAT YOU HAVE TO GO THROUGH ALL THAT.  IF YOU HAVE FACEBOOK THERE'S A FEW CANAVAN GROUP THAT IS THAT MIGHT BE ABLE TO HELP.  AND YOU MIGHT BE ABLE TO GET SOME QUESTIONS ANSWERED BY DR. PAOLA LEONE. http://som.umdnj.edu/research/cellbiology/faculty/leone.html

Hi Brenda,

Yes they are testing for Canavan Disease.  I'm wondering if anyone has had a diagnosis made through an MRI?  Because that's what they're going by now.  They are also doing actual genetic testing to see what else may be going on. I have been in contact with Dr. Leone.  She doesn't want to talk to me until Jacob has a positive urine test.  I guess I'd be wasting her time otherwise.  I feel for all of you out there who have a child with this illness.  It has to be so difficult.  Thank you for your help.

Hi,

 Thank you for responding.  I will check out that Canavan's group.  I have talked to Dr. Leone.  She wants to wait until there's a positive urine test before she gives me any advice.  In the mean time I just wait.