[tri-med] Trisomy 1 Site

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 Pa. 16039.

      "I need help," Jurysta said. "I just want to talk to them, meet them, and 
find out how the victims are doing."
     
If you wish to contact the Jurysta family but do not want to, or are unable to 
send mail,
an e-mail account has been set up for their use. Jurysta@xxxxxxxxxxx 


(Articles reprinted from Sunday, October 12 edition of the Butler Eagle.)
                  Building ___ooOOoo__ Rainbows
                       www.trisomyonline.org
                  Families Helping Families On-line

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