22q Deletion Interest Board: Re: Very late diagnosis

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Re: Very late diagnosis

Posted by Ray Hallett on 6/20/2008, 7:15 am, in reply to "Re: Very late diagnosis"
202.168.20.186

Hi Lisa

My daughter is now 20 and she has many of the symptons that you have described.

You should be proud of yourself for what you have already achieved.

Best wishes
Ray Hallett
--Previous Message--
:
: Hi, I'd thought that I'd let you
: know that I was diagnoised at the
: age of 19.I went to East Grinstead
: and had the Fish Test. Mum and dad
: were tested and were fine, we've not
: gone down extened family as it's to
: late in the day for that and it's up
: to my sister if she decides to have
: kids to have the test done. I was
: born with a congential heart
: condition called Tretalogy of
: Fallot. I've got a cleft Palate, a
: double Uvula, Scholiosis and I've
: had both my knee caps operated on.
: I've found it hard to eat as baby.I
: have slight nasal problems breathing
: through my nose hate getting colds.
: Maths and remembering things is
: difficult and slight time
: conceptions. I've managed to
: complete school and go on to part
: time work and have my own flat with
: carers and my little dog and have
: good friends and family near by.
: --Previous Message--
: My son wasn't diagnosed until
: just
: before his 28th birthday. I hope
: that doesn't make you think it isn't
: important to read the rest of this.
: Those of you who have young children
: and teens can look to our situation
: and understand that we may be able
: to help you more than doctors in
: some ways. We traveled this road
: virtually alone and suspected a
: chromosomal anomally all along. We
: took him to doctors in two states,
: geneticists,cardiologists,
: internists, opthamologists, 7
: different
: pedatricians,orthopaedists, and
: podiatrists. He had nine surgical
: procedures before his sixth
: birthday. We saw odd symptoms that
: doctors dismissed as not being
: related to anything, but of course
: they dismissed everything as
: unrelated. Our first foray into
: genetic counseling was terrifying
: and unproductive. Despite the fact
: that VCFS was discovered the year
: our son was born our geneticist was
: clueless. He described the oddities
: of heart, gastric, vision, muscle,
: joint, etc issues as
: multi-factorial, not connected. I
: was grilled as to what I did during
: my pregnancy that might have caused
: this. That was in 1979. We went to
: a geneticist again in 1984 and again
: in sept 2006. In 1984 we were told
: that nothing was found. however in
: 2006 a reference was found in my
: son's file to the fact that the
: doctor had thought initially that
: there was a possibility that my son
: might have VCFS but discounted it
: because he doesn't have a cleft
: palate. Luckily our new geneticist
: saw that there were too many
: indicators to dismiss this and
: ordered a Fish test. Our son was
: born with a pseudo-coarctated aorta,
: a ventricular septal defect, a
: bicuspid valve(should be tricuspid),
: a malrotated intestine with Ladd's
: bands, gi reflux that lasted until
: he was almost 2yrs old, cavus foot,
: tight heel cords, high arch, hammer
: toes, (reverse club foot) high
: arched palate, low side of normal
: muscle tone, strabismus, exotropia.
: double hernia, undecended testicle,
: feeding problems, unable to eat
: anything but strained babyfood until
: 2-3 years old without choking, fluid
: retention then bedwetting 2-3 times
: a night soaking everything, odd
: health issues like not being able to
: breathe through his nose or blow his
: nose, trips to the ER with
: undiagnosable stomach pain, unable
: to walk once for three days due to a
: "suspected" virus in his
: legs, learning disabilities
: particularly in the areas motor
: planning, visual memory, puzzle
: completion, math computation, time
: concepts, articulation problems,
: speech acquisition delay, animal
: sounds only until the age of 2 1/2
: to 3(meaning
: oinking,mooing,barking,meowing
: etc)(sentences emerged at 5 yrs.
: I hope this helps some of you to
: see that a diagnosis is power. Any
: diagnosis is hard. To this day when
: I happen upon a young family at the
: hospital with a sick child I'm
: transported back and it tugs at my
: being.
:
:
:

Message Thread:

Very late diagnosis - Deb Chase 5/18/2007, 11:53 pm
- Re: Very late diagnosis - Gail Conlon 7/21/2008, 3:11 pm
- Re: Very late diagnosis - Lisa Elliott 1/11/2008, 6:30 pm
  - Re: Very late diagnosis - Ray Hallett 6/20/2008, 7:15 am
- Re: Very late diagnosis - annie 6/14/2007, 12:06 pm
  - Re: Very late diagnosis - Daniela 1/22/2008, 3:33 pm
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--Previous Message-- : Hi Lisa : : My daughter is now 20 and she has : many of the symptons that you have : described. : : You should be proud of yourself for : what you have already achieved. : : Best wishes : Ray Hallett : --Previous Message-- : : Hi, I'd thought that I'd let you : know that I was diagnoised at the : age of 19.I went to East Grinstead : and had the Fish Test. Mum and dad : were tested and were fine, we've not : gone down extened family as it's to : late in the day for that and it's up : to my sister if she decides to have : kids to have the test done. I was : born with a congential heart : condition called Tretalogy of : Fallot. I've got a cleft Palate, a : double Uvula, Scholiosis and I've : had both my knee caps operated on. : I've found it hard to eat as baby.I : have slight nasal problems breathing : through my nose hate getting colds. : Maths and remembering things is : difficult and slight time : conceptions. I've managed to : complete school and go on to part : time work and have my own flat with : carers and my little dog and have : good friends and family near by. : --Previous Message-- : My son wasn't diagnosed until : just : before his 28th birthday. I hope : that doesn't make you think it isn't : important to read the rest of this. : Those of you who have young children : and teens can look to our situation : and understand that we may be able : to help you more than doctors in : some ways. We traveled this road : virtually alone and suspected a : chromosomal anomally all along. We : took him to doctors in two states, : geneticists,cardiologists, : internists, opthamologists, 7 : different : pedatricians,orthopaedists, and : podiatrists. He had nine surgical : procedures before his sixth : birthday. We saw odd symptoms that : doctors dismissed as not being : related to anything, but of course : they dismissed everything as : unrelated. Our first foray into : genetic counseling was terrifying : and unproductive. Despite the fact : that VCFS was discovered the year : our son was born our geneticist was : clueless. He described the oddities : of heart, gastric, vision, muscle, : joint, etc issues as : multi-factorial, not connected. I : was grilled as to what I did during : my pregnancy that might have caused : this. That was in 1979. We went to : a geneticist again in 1984 and again : in sept 2006. In 1984 we were told : that nothing was found. however in : 2006 a reference was found in my : son's file to the fact that the : doctor had thought initially that : there was a possibility that my son : might have VCFS but discounted it : because he doesn't have a cleft : palate. Luckily our new geneticist : saw that there were too many : indicators to dismiss this and : ordered a Fish test. Our son was : born with a pseudo-coarctated aorta, : a ventricular septal defect, a : bicuspid valve(should be tricuspid), : a malrotated intestine with Ladd's : bands, gi reflux that lasted until : he was almost 2yrs old, cavus foot, : tight heel cords, high arch, hammer : toes, (reverse club foot) high : arched palate, low side of normal : muscle tone, strabismus, exotropia. : double hernia, undecended testicle, : feeding problems, unable to eat : anything but strained babyfood until : 2-3 years old without choking, fluid : retention then bedwetting 2-3 times : a night soaking everything, odd : health issues like not being able to : breathe through his nose or blow his : nose, trips to the ER with : undiagnosable stomach pain, unable : to walk once for three days due to a : "suspected" virus in his : legs, learning disabilities : particularly in the areas motor : planning, visual memory, puzzle : completion, math computation, time : concepts, articulation problems, : speech acquisition delay, animal : sounds only until the age of 2 1/2 : to 3(meaning : oinking,mooing,barking,meowing : etc)(sentences emerged at 5 yrs. : I hope this helps some of you to : see that a diagnosis is power. Any : diagnosis is hard. To this day when : I happen upon a young family at the : hospital with a sick child I'm : transported back and it tugs at my : being. : : : : :

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