[tri-med] Re: info on respiratory failure at/after birth in T13's

 
Barb, 

 My grandson Julian is mosaic partial trisomy 1. The book you're talking
about........do you know if there is a chapter on mosaic in there? I'm
tryingto find out if mosaic kids should be retested as they get older due to
the possibility of losing (for lack of a better term) some of the affected
cells. I swear( ok, can't swear it but I think ) I read that on here but
justcan't get any more info on it. 

                                                Thanks Much, 

                                                  Karen, grandma to Julian,
3yrs old, mosaic partial trisomy 1


----------------------------------------------------------------------------
From:  "Barbara Farlow" <b_farlow@xxxxxxxxxxx>
Reply-To:  tri-med@xxxxxxxxxxxxx
To:  tri-med@xxxxxxxxxxxxx
Subject:  [tri-med] Re: info on respiratory failure at/after birth in T13's
Date:  Sat, 15 Jul 2006 02:16:39 +0000
>
>Hi Carolyn,
>
>That is wonderful news about your sweet boy's heart. Believe it or not, my
>Annie was diagnosed with borderline hypoplastic left heart syndriome via 3
>prenatal echo's done by the best ped. cardiologists in Canada. When i
talked
>to the Cardio at 36 weeks (Just like you now!) he squirmed in his seat and
>said, " you know, we are not sure your baby's heart is even going to beat
>when she is born" Talk about blood pressure!! Can you imagine that she
ended
>up with "No cardiac intervention likely necessary"?
>
>Have you read the published material by Dr. John Carey? A dear friend from
>this site, Catherine, (Whose mosaic daughter Bec is 32 yrs of age) sent me
a
>copy. I am not sure if it is avail. online, as it is a chapter from a
>genetics book. I found it very profound because it was the first time that
I
>realized that the babies don't die "just because" but for a reason. The 2
>major causes of death in the first year are apnea and heart defects.
>
>Unless someone knows if it is online, say the word, and email me offline
>withyour add. and I will mail it to you immediately.
>
>If Luke has cutis aplasia (scalp defect) they will need to put silver
>flammazine cream or another good antibiotic cream and keep it covered. I
>tellyou this because Annie was 4 days old before they knew what to do with
>it. It healed up very nicely and quickly with the cream.
>
>Let me know pls about the Carey material. He is a great man, and I believe
>the leading authority of Tri 13/18 disorders. He lives in Salt lake city,
>Utah.
>
>My hearfelt thoughts are with you at this time.
>
>Barb
>
>
>---------------------------------------------------------------------------
-
>From:  "Carolyn Harman, Steve, Damon &Luke Prothero"
<chaterbox@xxxxxxxxxxx>
>Reply-To:  tri-med@xxxxxxxxxxxxx
>To:  <tri-med@xxxxxxxxxxxxx>
>Subject:  [tri-med] Re: info on respiratory failure at/after birth in T13's
>Date:  Sat, 15 Jul 2006 11:37:38 +1000
>Thanks for your email Barbara,
>
>No we won't probably know who the primary paediatrician is before birth, I
>do like your idea of the posters, I've a summary sheet of Livingwithtrisomy
>site of full T13 kids, the ages they are and the problems that they were
>born with and have had corrected, it goes everywhere with me.  Here's a
>classic comment that I got from the elderly female ob that I saw last week,
>well, I can understand that the decision to continue on with Luke would be
>made easier as his life expectancy is so low, lets face it "he's not going
>to make old bones is he" it's not like you will have to care for him for a
>long time like a T21 child"  --- can't believe a woman would say something
>like this to another woman.  I'm very uneasy as to having her near me, it's
>public hospital policy to get whoever you get, but I'd just as soon have
the
>janitor than her.  Needless to say my BP was up after this last vist,
>nothing major, but it went up 2 weeks before Damon was born, so she wants
to
>see me next week.  I'm going to cancel, and reschedule with anyone else.
>
>No Luke has a reduced L atrium and very small VSD near the valves, I'll try
>to get a photo at the next scan approx  36weeks, his heart beat is spot on
>and rock solid.  What are you thinking Barb.  --------kind regards  
Carolyn
>----- Original Message -----
>From: "Barbara Farlow" <b_farlow@xxxxxxxxxxx>
>To: <tri-med@xxxxxxxxxxxxx>
>Sent: Friday, July 14, 2006 9:17 PM
>Subject: [tri-med] Re: info on respiratory failure at/after birth in T13's
>
>
>
>Hi Caroyn and Steve,
>It is very easy, I think for doctors to write everything off to "central
>issues," when the reality is they don't know or don't care to find out.
>
>The geneticist confirmed that our daughter would have died at about 1 week
>ofage due to hypoglycemia. She likely would have fallen into a coma and
>stopped breathing. Everyone would have written it off to central issues of
>trisomy 13.
>
>When Annie had soaring CO2 levels and tachypnea and increased work of
>breathing they must have blamed that on central issues as well because they
>didn't do further diagnosis.
>
>
>
>
>Personally, I would be very cautious upon hearing something being blamed on
>"central" issues. My experience is that it could be a cop-out of sorts. It
>seems to me that in many cases, medical treatment or surgery can give our
>kids a chance. It is just a question of how much and having to make the
very
>difficult decision of pain vs. expected benefit.
>
>Will you know specifically who your primary paeditatrician is before birth?
>Iwould try to educate him about the possibilities and what kids have
>overcome. We have often thought it would have made a difference if we had
>gone to the absurd effort of placiing a poster on the wall of my daughter's
>room of a trisomy 13 child, each day, a different one. If we had done this,
>then when the doctor did his rounds each day we would say, " this is Joe=
>he's 8 and had a vsd and cleft pallette surgery" etc etc. It sounds crazy,
>but I don't think they understood the realm of possibility. If they did
>understand the possibility, I believe most say, " Why bother? what kind of
>life is that anyway?"
>
>Does little Luke have any imminent cardiac issues that you know of?
>
>Barb   MOm to Annie  05/25/05-08/12/05
>
>
>---------------------------------------------------------------------------
-
>From:  "Carolyn Harman, Steve, Damon &Luke Prothero"
<chaterbox@xxxxxxxxxxx>
>Reply-To:  tri-med@xxxxxxxxxxxxx
>To:  <tri-med@xxxxxxxxxxxxx>
>Subject:  [tri-med] Re: info on respiratory failure at/after birth in T13's
>Date:  Fri, 14 Jul 2006 16:25:42 +1000
>     Had Luke's 33 week checkup yesterday, consulted with a neonatologist
who
>when questioned stated that no one one DNR order Luke without our
>consultation, well I of course won't allow them the benefit of that doubt.
>She did say that T13 kids often develop a centrally driven respiratory
>disorder that eventually is the end of them at approx days to week
>timeframe.  Well obviously that's not altogether true, even on questioning
>she definately told me that it wasn't a cardiac driven respiratory failure,
>for those who've been there before, I'd love to hear what you've got to say
>on the subject. Re: medication, treatment, O2 sat levels, cyanosis, rapid -
>short breathing whatever, I want to know what they know before they're
going
>to tell us that it's a genetic factor that can't be influenced----  always
>the skeptic--  thanks Carolyn
>-- Binary/unsupported file stripped by Ecartis --
>-- Type: image/gif
>-- File: Blue Plaid.gif
>
>
>                     Building ___ooOOoo__ Rainbows
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>
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>                    Families Helping Families On-line
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>
>                   Building ___ooOOoo__ Rainbows
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>                   Families Helping Families On-line
>


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