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NEWSLETTERS DOWNLOAD A .PDF COPY OF OUR BROCHURE - SPREAD THE WORD! Chromosome 22 Central Inc.
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Jared
DOB:
03-16-01 22q12.1
chromosomal duplication Allen from
Tennessee The
hardest part of writing a story is always the beginning...so I guess
that’s where we'll start, the beginning.
It was August 2000, when we found out we were going to have another
child. We already had 2 girls, of whom we are extremely proud, and this
little one came to us as a surprise. Mechille was already diabetic and had
a few health problems, so going into a pregnancy created a little worry
for us, for both her and our child. The previous 2 pregnancies had some
complications, so this also added to our concerns. For
the first trimester, all went fairly normal. Mechille's OB felt she needed
to see a perintologist, just to make sure she and the baby were watched
especially close. Mechille's diabetes started to give us a little problem
during the second trimester so her insulin had to be increased on several
occasions and also her ketones were running pretty high. We
finally got control of all that and then during the third trimester she
started to have some pretty serious complications. We were in and out of
the hospital constantly. She developed a condition known as polyhydramnios,
(excessive amounts of amniotic fluid), her diabetes went out of control,
her blood pressure started going up, her keytones went through the roof,
she was having pre-term labor, and the baby was non-reactive. The last
trimester was pretty rough. We found out we were having the son we had
always prayed for and this just kind of made all the worries a little
easier to deal with.
Mechille's OB informed us that the baby was huge, caused by the
diabetes. He was already almost 10 lbs. and she was just at 33 weeks. the
Doc decided that the baby needed to come out, and soon. He was becoming
more and more non-reactive so we had an amnio to check his lung maturity,
which came back not so great. Steroids were given to boost lung
development, and He was delivered the following week.
With 2 previous C sections and a very large baby, it
was a given that this one would be Mechille's third C section. All went
well, and our son, Jared Christopher Burke, was born on March 16, 2001 at
8:34 am est. We were both so proud, and both Amanda and Jenna was
completely in love with him. He came out at an even 10lbs., and 21 3/4
inches. Immediately upon seeing him, I called him "Hoss",
because that’s what he was and that name stuck.
The first night went pretty good, he was a little jaundiced but
other than that he was doing pretty well. It was the second day he started
having problems. Because Mechille was diabetic, Jared’s blood sugar
started to bottom out, and he went into respiratory distress. He was sent
to East Tennessee Children’s Hospitals NICU, which, thank God, was just
next-door.
We were familiar with the NICU because when our youngest daughter
Jenna was born, she had to be rushed there because of respiratory
distress, she has Cystic Fibrosis. Well after 3 days we finally found out
the main problem, or so we thought...Jared had a VSD (ventricular septal
defect), he was stabilized and after a week we got to bring home our son.
Talk about a kid being spoiled, he was, and still is spoiled rotten.
Everything was going well, he was healthy, all but having a lot of
respiratory illnesses, mainly bad colds and 1 bout of RSV. When he was
about 6 months old, Mechille started noticing there was something not
quite right with him. He had crossed eyes, but that didn’t concern his
paediatrician or us greatly. We thought he would eventually grow out of
it. He was falling behind in some things, like he couldn’t roll over,
couldn’t hold his head up very long, and a couple of other things. One
day not long after he turned 6 mo., he stopped responding to us. He would
just lie there and his eye would bounce back and forth very badly, so we
took him to the paediatrician. She almost panicked, immediately admitting
him to the hospital. She didn’t know what the problem was, but all of a
sudden, he had developed hypotonia, he couldn’t hold up his head,
didn’t cry much at all. She told us at first she thought that he had a
stroke. After every test she could do, CT scans, MRI's, blood work,
x-rays, ultrasounds and several others. She had done extensive blood work
and some of them came back abnormal. Coupled with all the visible symptoms
and with the abnormal blood tests, she came to the conclusion that Jared
could possibly have Neuroblastoma, a deadly form of Cancer, in the early
stages. So she started looking for tumors, which none were found. We went
to an oncologist who done some extensive test of her own which all came up
negative for Neuroblastoma which gave us great relief. Then we were back
to square one...what was wrong with him?!!!
His paediatrician decided to get some blood and send it to
Univerity of Tennessee Genetics for testing and 2 weeks later...bingo, the
culprit. Jared was diagnosed with Partial Trisomy 22q12.1 duplication. At
this time, we didn’t even know what a Chromosome was hardly. We learned
very fast. His geneticist told us he would probably be severely retarded,
wouldn’t talk, walk, feed himself, or any other "normal"
things children would do. We, including Jared, had other plans. Our faith
in God had carried us this far and would help us go the distance.
At this time, there was only one other child, that we knew of , a
little boy, who we found with the same disorder as Jared so very little
was known about its effects and how he would grow, develop, or if he could
possibly thrive.
As soon as we found out ,we started therapy, speech, OT, PT,
and a couple of other programs. I am fully convinced that his therapy,
along with Gods strength and mercy, lots of love and patience, helped
Jared not only survive, but thrive. He started talking, walking,
attempting to feed himself and alot of other things the DR.'s said he
could never do. He is still proving them wrong after 3 years.
His problems include, Cortical blindness, strabiusmus, nistagmus,
not 1 but 2 VSD's, severe retardation, sensory problems, optic nerve
dysplasia, 3 hernias, flat feet, very bad eyes...+6 (as bad as they can
get without being completely blind), Immunodeficiency...T-cell deficient,
Epilepsy, ADHD, severe behavioural problems, Autistic, and various other
things. He has been on lots of different medications, some for his
behavioural problem some for his epilepsy. We are just now, after 2 1/2
years of trial and error, getting his seizures under control.
Jared doesn’t like crowds at all. So this poses a very big
challenge for us. We can’t take him to church, malls, restaurants, and
amusement parks...anywhere there are lots of people and loud noise,
because he goes ballistic. Hoss is a head banger. When he gets frustrated
he either attacks someone, or bangs his head on the floor. Before we can
get to him to stop him, he's already banged it several times. He tends not
to feel pain when he gets like this. There have been times when he has
banged it on concrete, hardwood floors, black top...just wherever we are,
he will bang it. On one occasion, he hit it so hard he lost consciousness.
He is so fast that when he starts to bang it, by the time we reach him,
he's already hit it several times.
The first week of May we went on a trip to Disneyworld in Orlando,
thanks to the Make-A-Wish foundation. Hoss had a lot of fun down there. He
loves Spiderman and got to meet him up close and personal. After his
performance, Spiderman gathered up some other superheros, the X-Men,
Captain America, and Dare Devil, took us backstage and spent a half hour
with Jared playing with him. I believe Jared was floating on cloud 9. He
didn’t like the crowds down there so we spent a lot of time at the
" Give Kids the World Village" where we were staying. GKWV is a
child’s dream come true and is there just for children with severe
illnesses, disorders and disabilities. You just have to see it to believe
it. Anyway he got to do a lot of swimming, playing games, and meeting a
lot of the Disney characters so we stayed pretty busy, lol. Jared is a true blessing to our family. He is loved and spoiled rotten. He has his good days, but more often than not, bad days. We are looking at possible heart surgery in the new future, he has already had the hernias repaired, and I think, and stress think, we have gotten a hold on his seizures. Winters are very hard on him because of his low immune system. He catches every cold going around and RSV and pneumonia always are grave concerns to us.
So far, we have found 3 other children worldwide with the same
disorder. There are probably a lot more out there who has been mis-diagnosed
or not diagnosed at all. It’s our dream to be able to meet with these
families someday and just compare notes, but they are all scattered across
the world so for now the "net" is the best we can do.
Jared is making great strides and improving both mentally and
physically day by day. His speech is coming along great. He just has a
problem taking in information, processing it and getting it back out. He
can say anything, but he does it without thinking...like a parrot. Tell
him to say it and he will but he doesn’t understand what he is saying.
Just recently, he has started talking in small sentences and understanding
what he is saying. Once we get this guy talking, we wont get any rest
because he loves to babble, lol. I’m looking forward to a few sleepless
nights of listening to him.
Finding the right team of Physicians and Specialists has been a
struggle in itself. We have been told by several Drs they wouldn’t treat
him because enough wasn’t known about this and they weren’t
experienced in these things enough to give proper treatment, and we have
had some that went ahead blindly and done more harm than good. But finally
we have gotten him a great team established who work together for
Jared’s benefit and not for the money.
There have been some real struggles with Jared's disorder and
chances are...many more to come. All
in all Jared is doing good. As I said he has good days and he has his bad
days, but he is so sweet and loving on his good days it makes us forget
about his bad ones. I thank God daily for Jared, my wife, Mechille and my
daughters, Amanda and Jenna. They are the best of the best and together;
we will get through the worst of the worst. Allen |
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