[tri-med] Re: Trisomy 1 Site

Butler PA is about 45 minutes due south from me (we are in the booming 
metropolis of Oil City, PA)!  I actually lived in Butler one year about 10 + 
years ago - way before marriage and babies.  What a small world!!!

Irene
Christina (3), Caroline (2 and partial trisomy 17p) and Kallie (born 
6/23/05)
http://www.babiesonline.com/babies/c/carolinerochelle/


----- Original Message ----- 
From: "William Heisler" <mukeni@xxxxxxxxx>
To: <tri-med@xxxxxxxxxxxxx>
Sent: Thursday, September 29, 2005 7:01 AM
Subject: [tri-med] Re: Trisomy 1 Site


> Mount Chestnut, Butler County is in western PA (north
> of Pittsburgh.)  Whitetail Lane didn't turn up in
> mapquest.com but can be seen on their map white Yahoo
> maps worked fine.  There are no listings for Jurysta
> in "Mount Chestnut," and I think that it may just be
> grouped under Butler anyway for which there are 8
> Jurysta's.  However, none of them are Robert or
> Charlene, but I would bet that the others are
> relatives...
>
> William
>
> --- Karen <karens@xxxxxxxxxxxxxxxx> wrote:
>
>> This article was in the Butler Eagle in Butler
>> County (but don't ask me where that is!!)
>> The families name is rather unusual so a look in the
>> phone book if you find Butler County will probably
>> turn up some results. I also have a photo of Steven
>> that I will send you off list. The email address at
>> the bottom doesnt work - sorry.
>> Family marks milestone of ill 9-month-old MOUNT
>> CHESTNUT - Steven Jurysta is starting to play with
>> his toys. He's holding his bottle now, but sometimes
>> he misses his mouth. He's moving around in his
>> walker, but only backwards.
>>
>>       Not great for the average 9 month old. Not bad
>> for a kid who isn't supposed to be alive.
>>
>>       The son of Robert and Charlene Jurysta ,
>> Steven has a chromosome disorder so rare that is
>> doesn't have a formal name.
>>
>>       Doctors call it Trisomy 1 - a generic term
>> meaning there is a duplication of the first
>> chromosome in each strand of Steven's DNA.
>>
>>       There have only been three other documented
>> cases. Steven has beaten the odds and outlived them
>> all.
>>
>>       "Today is the day my son made history,"
>> Charlene said from her Whitetail Lane home on Sept.
>> 30, when Steven turned 9 months old and became the
>> oldest survivor of the condition. "We had a huge
>> party for him. We've had a party for him every
>> month."
>>
>>       When Charlene was pregnant with Steven, the
>> couple had no idea they would be celebrating his
>> every month on earth, just praying for one more.
>>
>>       Even when Steven was born Dec. 30 with a bad
>> case of jaundice and lungs that were not fully
>> developed, there was no sign of long-term problems.
>>
>>       "At first, we just thought they had the (due)
>> date wrong, but Steven wasn't premature," Charlene
>> said. "That was caused by the chromosomes."
>>
>>       On Feb. 28, the Jurysta's lives changed
>> forever. Steven stopped breathing three times that
>> day.
>>
>>       "I was so scared. I picked him up and gave him
>> a jolt, and that stimulated him enough to start
>> breathing again," Charlene said.
>>
>>       After more breathing problems, several
>> hospital stays, and more doctors' visits, "genetics
>> came into the picture," Charlene said.
>>
>>       The problem was found. The answer may never
>> be.
>>
>>       Doctors are treating the symptoms - the heart
>> and respiratory disorders, the weakened immunity
>> system, the seizures, the hearing and vision
>> deficiencies. Like all genetic defects, including
>> the duplication of the 21'st chromosome known as
>> Downs Syndrome, there is no cure.
>>
>>       "He's actually doing quite well in all
>> respects," said Steven's physician Dr. Miriam Bloom
>> at Children's Hospital in Pittsburgh. She explained
>> that if the problems were severe enough to cause an
>> early death, they probably would have already.
>>       "The longer he lives, the longer he'll live,"
>> Bloom said. "But he is probably never going to be a
>> normal child."
>>
>>       Charlene accepts that.
>>
>>       "He's a little small (18 lbs, 24 inches long),
>> and he's doing things at a 5 to 6 month age level.
>> He'll be mentally delayed. How much or how long, we
>> don't know."
>>
>>
>> The Jurystas are taking it one day, one doctor's
>> visit, one birthday party at a time.
>>
>> Bloom can't make a long-term prognosis; can't
>> predict what problems lie in Steven's path. "We only
>> have three other cases, three other children, to
>> compare him to."
>>
>> But "Steven's a fighter," Bloom said, and he's got a
>> family of fighters in his corner - Dad, Mom, sister
>> Amanda, 10; brother Eric, 13, and Herman the Poodle.
>>
>> "The family is advocating very strongly for him,"
>> Bloom said. "When you bring a child like Steven
>> home, it changes your life forever. Some families
>> rise to the occasion and others can't. They have
>> definitely risen to the occasion."
>>
>> Steven is a challenge, and requires constant
>> attention. He wears hearing aids, has seizures and
>> chronic indigestion, is prone to colds and
>> infections, and gets most of his nourishment through
>> a feeding tube.
>>
>> He's not allowed to leave the house except for his
>> visits to the doctor's office and the hospital. The
>> few who have held him - members of the immediate
>> family and home health nurses - must wash their
>> hands and face and change their clothes to protect
>> him from colds and infections.
>>
>> But nobody minds, not even Eric and Amanda, who must
>> share their home and their parents with a child that
>> takes up much more time than most.
>>
>> "They're a very big help," Robert said of his older
>> children. "They both understand and pitch right in.
>> It just fell into place. We never said anything to
>> them about being jealous ..."
>>
>> The children were quick to prove his point.
>>
>> "He's a loudmouth," Amanda said as she led a visitor
>> into the family home, with Steven yelling in the
>> background. "But it's sure nice to hear him
>> talking."
>>
>> While the doctors say Steven can't hear or see very
>> well, his siblings disagree, and say they have
>> proof. "He likes a couple of (television) shows -
>> The Price is Right and Blues Clues," Eric said.
>>
>> Eric rarely holds Steven - "I'm afraid of dropping
>> him" - but doesn't mind baby-sitting. "I just let
>> him do whatever he wants."
>>
>> They long for the day when Steven can leave the
>> house for family outings.
>> "I'd just like to take him outside and show him
>> everything," Eric said.
>>
>> Amanda would choose "some place colorful, like the
>> zoo" for that first field trip. "Steven's never been
>> anywhere fun."
>>
>> Charlene said she knows the feeling.
>>
>> "When I go into the grocery store and I see all the
>> mothers with their new babies, it makes me feel so
>> bad. I want to show Steven off," she said. "He's
>> beautiful. He's got dark eyes and so much hair. It's
>> down to the middle of his back."
>>
>> Steven is a sick baby, but rarely cries. "He lives
>> with pain. He's tough," Robert said.
>>
>> But he's showing signs of improvement.
>>
>> "He's definitely making some progress," Bloom said.
>>
>> The Jurystas credit their doctors, nurses and High
>> Mark Blue Cross/Blue Shield for the recovery.
>>
>> "Without the excellent health care Steven has
>> received...he would not be alive today," Charlene
>> said.
>>
>> Margie Walsh of the Visiting Nurses Association of
>> Western Pennsylvania, which assists the Jurystas,
>> said Charlene should also take a bow.
>>
>> "She's very involved. She's taken on a great
>> responsibility," Walsh said.
>>
>> Charlene said her family is in for the long haul,
>> and the longer the better.
>>
>> "They said with babies with multiple disorders,
>> sometimes the parents just let nature take its
>> course. We'll never quit," Charlene said.
>>
>> "I want Steven to experience life."
>>
>> Boy's mom seeks others with rare genetic disorder
>> MOUNT CHESTNUT - Nine month old Steven Jurysta is
>> one of only four people ever diagnosed with a rare
>> genetic disorder.
>>
>>       His mother, Charlene Jurysta, thinks there may
>> be more.
>>
>>       She is urging anyone who knows of an
>> individual suffering from, or who has died from the
>> effects of a duplication of the first chromosome to
>> contact her care of Charlene Jurysta, PO Box 88,
>> Herman
> === message truncated ===
>
>
>
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>                  Building ___ooOOoo__ Rainbows
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> 

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

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