[ Post a Response | 22q Deletion Interest Board ]
Posted by Daniela on 1/22/2008, 3:33 pm, in reply to "Re: Very late diagnosis"
12.44.210.21
Hi Deb,
I read your story and understand so well. Our son, Alfonso, just got diagnosed 1 month ago at age 8. All his life we have struggled with so many "unrelated" symptoms from one kidney, severe feeding issues, failure to thrive, chronic neumonias and infections, Hearing loss, very crooked feet and leg pain, learning difficulties, ADD, and small stature. We have been dealing with each symptom one a time, but it wasn't until an brain MRI was done for the growth hormone treatment, where black spots were detected in his white matter of the brain, that we were finally referred to a geneticist. In 1 hour he had the diagnosis we had been looking for in 8 years. We also knew things had to be related. Healthwise, he is much better. But now are learning how to manage his school performance and behavior issues. He shows signs of obsessive behavior and mood swings. He doesn't know how to tie his shoes, but is an amazing artist. It has been hard to accept that he won't have a typical development, but I know with the right kind of help and encouragement he can still have a happy, productive life.
--Previous Message--
: hi my son was diagnosed with 22q11.2
: deletion syndrome feb2006 he is 6
: years old, my sons has speech
: delay,learning difficulties, has
: recently had an operation to repair
: his palate, when i just foung out
: about my sons condition my doctor
: new very little about it,so ive been
: looking it up online every since
: there was a conference at the start
: of the month in dublin were parents
: of children with the deletion and
: teenagers with the deletion spoke i
: found that very reassuring that was
: the first time ive seen anyone with
: the deletion,there was some
: professors and consultants there
: from all over the world and from
: that conference ive learn so much
: more and understand alot more on
: whats ahead for my son.
:
: --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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