[tri-med] Re: Trisomy 9 mosaic

Hi, 
  I am new to your site and am already wishing I had found you all 18  months 
ago. My son had Trisomy 8 mosaicism and was born 3 months prem.  Without going 
into a very long story we nearly lost him so many times  and spent 6 months in 
PICU before finally making it home. I am replying  to this email because when I 
read it I couldn't believe it. My son had  a malrotation of the gut and it was 
its correction that saved his life  in the end. The doctors were baffled (and 
annoyingly head in the sand  about things) about why our son kept having 
horrendous apneas and that  it would take a lot of hard bagging to get him 
back. In the end (after  5  months) we were told by the doctors that they were 
sorry that  there was nothing else they could do and that they were sending us 
to a  more specialist hospital. We arrived at the new hospital and a  
respiratory consultant came to see us and said they were concerned  about my 
sons lungs, I had had enough and I very calmly started yet  agai
 n to
 give my explanation of events concerning my son. I believed  that he was 
refluxing and inhaling it into his lungs and it was this  was giving him 
repeated lung infections, not the Trisomy causing a lung  problem. I also said 
to this doctor that what did it take for someone  to listen to the parents as 
it is them who sit with their child all  day, every day. I told him that 
although the last hospital ruled out  reflux by inserting a PH monitor down 
above the stomach,  I  explained that what if the PH of the stomach acid was 
not within the PH  meters readings then technically it would not show. but 
besides all of  this I new my son had reflux because i could hear it when I 
held him, I  could hear it shoot up his throat and hit the back of his nose. 
The  consultant listened and for the first time in 5 months a member of the  
medical proffession actually acknowledged what I said and said that my  son 
would have a barium swallow to rule out the reflux.
  The next day my son and I were in radiography and I was feeding him the  
barium through very small sips. I was watching the monitor not really  sure 
what I was looking at. I followed the barium down then I noticed  the whole 
room had gone quiet (3 nurses and 3 radiographers). I asked  if they had found 
reflux and one radiographer came over and said that  he would need an emergency 
operation and that yes there was reflux. I  asked what the operation was for 
and thats when I first heard it, he  had a malrotation and it was very bad. I 
had never heard of it. Within  30 minutes we were talking to a surgeon who told 
us it was very rare  and that some people can live all their lives and never 
now they have  it, but some can be serious. He told us that the brother in the 
Pop  group The Bee Gees had died from it a couple of years back. 30 minutes  
after that my son was in surgery. It was successful and I questioned if  he 
could have been in pain from this malrotation and that is wh
 at might
  have been causing the apneas. The doctors said it was possible and that  time 
would tell.
  Well, my son (touch wood) has never had an apnea since and after one  month 
and my son being put on a reflux regime we made it home.
  It is not my intention to scare anyone with this story, it saved my  sons 
life and maybe if I had read about this while scouring the  internet night 
after night in desperation to save my son while watching  his doctors giving up 
I might have been able to to something sooner.
  Like I said earlier I wish I had found you  all many months ago,  it would 
have helped with my battle with the medical proffession.
  I could write forever and a day about the lack of help while my son was  in 
hospital and I am sure there are many of you like that. I must add  though that 
there were a few angels  in the PICU who if they  hadn't been there I am not 
quite sure how we would of got through.
  
  Katy. Mum of 18 month old son (The golden warrior) with Trisomy 8 mosaicism.
TRIER9@xxxxxxx wrote:  Hi, 
I have been contacted by a Mom with a baby with Trisomy 9 mosaic. Would the 
babies Karyotype show the percentage? Mom is unsure...in fact, she didn't even 
know there was such a thing.
Also, baby has malrotated intestines....any one else every deal with this?
Thanks so much!
Laurie
Mom to Brianna w/Trisomy 9p

                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line



                
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                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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