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update with Tony

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  • Wendy Bauer
    For about a month now we have been told that Tony has symptoms of frontotemporal dementia or pick s disease.  There is a gene on on one of the chromosomes
    Message 1 of 1 , Nov 1, 2012
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      For about a month now we have been told that Tony has symptoms of frontotemporal dementia or pick's disease.  There is a gene on on one of the chromosomes that Tony has deleted out that is associated with pick's disease the gene that is associated with this disease is c9orf72.  some research was discovered of november of last year.  Symptoms of this Tony exhibits, IU university is wanting to study Tony and that one gene.  Pick's disease is progressive. 
       
      Today we went to CAYAC appointment, until Tony turns 18 we go once a year they will be helping us get doctors for Tony's care into adulthood.  We went over everything they are doing a care summary of what Tony has going on and we will be getting a care of action for when we have to go to the ER since Tony present differently and that they will need to follow. 
       
      They are listing The Chromosome Deletion has the main and because there is research with Some of the genes Tony has deleted out that show issues with the way mitochondria communicate, he has probable mitochondrial disease due to the deletion.  and Has a probable pick's disease due to the deletion of c9orf72. 
       
      We talked about his day to day living.  He will not be able to live on his own because of the stuff he does that is dangerous and the way he reasons it.   We do have some time to transition into this step since he is only 13 years old. 
       
      They said that these issues are part of the FTD or pick's disease:
       
       
      Does anyone else see that their children have poor reasoning skills i.e. does things that are dangerous to themselves and others and gets themselves talked into bad situations. We have to watch him closely. he has compulsive behaviors. lots of reptitive behaviors. At times he has abrupt mood changes. He does not see the changes in his behavior. His physicians are now telling us that it is caused by his deletion. just wondering if others with the 9p- minus deletion sees these issues or not. What have you as parents tried if you have and how do you handle things that it interferes on the normal growing up i.e. having to have constant supervision and the rebellion of that them wanting freedom.
       
      While we were there and today they got him to understand that he can't live on his own because of the the things he does but he says he does not want to go to a group home he wants to live with family.  So hard to realize that these are choices we are going to have to make here soon.  I do want to honor his wishes and I am glad that he looks to family as being important. 
       
      Some of the time I want to break down and cry other times want to just forget and maybe it will go away and others I want to find a way to make it go away.  Sometimes I wish it was me and not my son. 
       
      This was hard to write about and I hope someone will be able to help with advice on how to make these decisions.  They are hard for me to face.  I hope I have not offended anyone.  Just coming from one mom hoping some of the older families can help make way of what is going on and how to get it to slow down.
       
       
      Wendy S. Bauer Indiana
      Mom to
      Alex
       
      Tony
      9p-deletion
      Mitochondrial disorder
      Many other diagnosis
      Mom to Erica
      Mastocytosis
       
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