Remembering Gabe today…
Posted by familysnows on 14 May 2007 | Tagged as: Prayer Concerns
Archive for May, 2007
‘When he walked, I cried’
Posted by familysnows on 14 May 2007 | Tagged as: Down syndrome Awareness
By Rachel Gallegos Iowa City Press-Citizen
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AINSWORTH — Michelle McCarthy said she remembers seeing a television show about a family who decided to have their child with Down syndrome go through plastic surgery to change the noticeable facial features.
That is something she said her family would never do to their son, Nathan.
“I think that it’s actually a blessing that he has a disability that’s visible,” McCarthy said. “They give him a little more slack.”
Down syndrome, a genetic variation that causes a delay in physical, intellectual and language development, is estimated to be one of every 800 to 1,000 births, according to the National Down Syndrome Congress. There are about 225,000 families in the United States affected by Down syndrome.
In most ways, Nathan McCarthy, 8, is all boy. He wrestles with his twin brother, Gabe. He races his brothers on Hot Wheels tricycles down the sidewalk in front of the house. He swims like a fish and is a big eater.
Gabe does not have Down syndrome. When the twins were born at 34 weeks, Gabe was first, making him two minutes older than Nathan. Gabe, however, was the one born not breathing. Nathan came out screaming.
Seeing that outcome at birth, father Troy McCarthy said he knew “everything is going to be OK with Nathan. Our family is going to be OK.”
The couple learned 22 weeks into the pregnancy that they were going to have two boys — Michelle McCarthy said she was hoping for at least one girl — and that one of the two had Down syndrome. The doctor offered the couple selective reduction, something they say they are glad to have rejected.
Troy and Michelle McCarthy spent the next 10 weeks researching as much as they could about Down syndrome.
While Nathan is in after-school therapy, like Wednesday’s swimming lessons, the parents try to spend some one-on-one time with Gabe and older brother Austin, 10. At school, however, sometimes it is difficult to deal with the special attention Nathan gets. Troy McCarthy said he remembers walking down the halls one time and everyone was saying “Hi” to Nathan, but not to the other boys.
“People always follow him. They think he’s so cute and they think he’s harmless,” Gabe said. “They forget what happens when I wrestle him.”
Nathan is 8, but in first grade. Michelle McCarthy said it was a tough decision, but the couple decided to have him do two years of kindergarten. The first time, he was learning how to cope in the classroom, dealing with the rules and expectations. The second time, they got to focus more on the academics, his mother said.
Even as an Ainsworth Elementary first-grader, he is smaller than the 14 other students in his class. He’s only slightly taller than the other kids when they are sitting in their desk chairs.
He sits in the second row, farthest to the left, with his aide, Michelle Castillo, sitting at the end of his desk.
After lunch, the class came back to the room to work on the final drafts of their compositions, copying the rough drafts before recess. Castillo pointed to each word and letter to keep him on track.
Following recess, it’s time for science. The students paired up, borrowed blocks from the preschool room and were handed two balls and a handful of other objects. The students were learning about motion, this time using wind power by blowing through a straw to make a ping pong ball and a bouncy ball move and knock over the other objects.
Castillo encourages Nathan to get him going on the experiment.
“Get the dinosaur,” she said.
He blows, gasps for air, blows and gasps. And finally the ball gets to the end of the alley and knocks over the toy dinosaur and person.
“Yes, I did it!” Nathan said.
“Did you knock the dinosaur over?” Castillo said.
“Yeah!” said Nathan, pumping his arms into the air in excitement. “And the person!”
Nathan is mainstreamed, or placed in a regular education classroom, the majority of the day. For 30 minutes in the afternoon he goes into the Resource Room and 30 minutes in the morning the Resource Room teacher, Brenda Bean, comes into his classroom.
This past week, Resource Room students were still finishing up testing to see where they are on their Individualized Education Program goals. On Wednesday, Nathan was working on an addition worksheet.
He needs someone working with him to keep him on task. He uses touch points, dots on the number, to help with the counting. He picked those up rather quickly, Bean said. This year, he’s improved a lot, she said, learning a lot of words.
“He has made amazing progress this year,” she said. “There are actually books he can read now.”
Because people with Down syndrome are sometimes seen with their tongues partially out of their mouths, the common misconception is that they have a larger tongue than most people, his mother said.
In fact, it’s not the tongue, but the mouth that is a different size — smaller than other people. To help his speech, his parents and teachers encourage Nathan to “use your tongue” to help him sound out words.
Last year, psychological testing put the 7-year-old Nathan’s cognitive and speech levels at that of a 4-year-old, his mother said.
Nathan also was born with clubfoot, a birth defect causing his left foot to be turned in with the toes pointing up. He’s had his Achilles tendon cut twice but still wears braces on the lower portion of his leg during the day to keep him from walking on his toes.
The braces come off, however, when he’s at the Washington Community YMCA for his afternoon swimming lesson. Mike Miller, a part-time Systems Unlimited councilor, picks Nathan up from school and is with him in the water during the lesson.
Nathan has a back float strapped around his midsection and orange swim trunks with a blue stripe down the sides. It’s a swimming lesson, but it isn’t focused on strokes or style. Instead, Nathan spends most of his time jumping over and over from a diving starting platform.
Before each jump, Nathan does a little showing off. With Miller’s encouragement, he “shows off his muscles” flexing his arms up into the air. Later in the lesson, he does some hip shaking dance moves before splashing into the water.
After Nathan arrived home from swimming, the entire family sat down for dinner together before going outside to play. All three boys spend time on the swing set on the backyard, asking Mom, Dad and each other to keep pushing. The twins ask for “underdog,” when they get pushed high enough to lean their head back while swinging so they are almost upside down.
“You’re making me nervous,” Michelle McCarthy said of Nathan’s increasing daredevil streak.
Other worries come out later, as the boys race their Big Wheels. Mom and Dad have to tell the boys exactly where to stop, even drawing a chalk line, so they don’t ride all the way into the street.
“That’s my biggest fear. He has no concept of danger at all,” Michelle McCarthy said. That’s especially true with people, because he’ll go up to people and hug them, even though he doesn’t know them.
“He’s just naïve,” she said.
In other ways, however, Nathan has surprised them in all he can do, she said.
Since his Down syndrome is very mild, his mother said she has a good feeling about him holding a job and living independently or in supported living away from his family. According to a 2002 population study, the average life expectancy for a person with Down syndrome is 49, almost double the life expectancy in 1982 of 25 years.
“We can’t restrict his future just based on what we thought,” she said.
Because of their experiences with Nathan, Troy McCarthy has become chairman of the Iowa Council for Early ACCESS and a member of the National Down Syndrome Congress board. The couple also helped found the Hawkeye Area Down Syndrome Association when the twins were 6 months old.
“I know I look at the world differently because of Nathan,” Troy McCarthy said.
“As much more work as it is, it’s 10 times more rewarding,” he said. “All of his milestones mean more because they don’t come naturally.
“When he walked, I cried.”
Prenatal Test Puts Down Syndrome in Hard Focus
Posted by familysnows on 13 May 2007 | Tagged as: Down syndrome Awareness
She likes to read, she said. Math used to be hard, but it is getting easier. She plays clarinet in her school band. She is a junior girl scout and an aunt, and she likes to organize, so her room is very clean. Last year, she won three medals in the Special Olympics.
“I am so lucky I get to do so many things,” she concluded. “I just want you to know, even though I have Down syndrome, it is O.K.”
Sarah’s appearance at Henry Ford Hospital here is part of an unusual campaign being undertaken by parents of children with Down syndrome who worry about their future in the face of broader prenatal testing that could sharply reduce the number of those born with the genetic condition.
Until this year, only pregnant women 35 and older were routinely tested to see if their fetuses had the extra chromosome that causes Down syndrome. As a result many couples were given the diagnosis only at birth. But under a new recommendation from the American College of Obstetricians and Gynecologists, doctors have begun to offer a new, safer screening procedure to all pregnant women, regardless of age.
About 90 percent of pregnant women who are given a Down syndrome diagnosis have chosen to have an abortion.
Convinced that more couples would choose to continue their pregnancies if they better appreciated what it meant to raise a child with Down syndrome, a growing group of parents is seeking to insert their own positive perspectives into a decision often dominated by daunting medical statistics and doctors who feel obligated to describe the difficulties of life with a disabled child.
They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children. In Massachusetts, for example, volunteers in a “first call” network linking veteran parents to new ones are now offering support to couples deciding whether to continue a pregnancy.
The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity.
“We want people who make this decision to know our kids,” said Lucy Talbot, the president of a support group here who prevailed on the hospital to give Sarah and two teenage friends an audience. “We want them to talk to us.”
The focus on the unborn is new for most parent advocates, who have traditionally directed their energy toward support for the born. But after broader testing was recommended in January, the subject began to hijack agendas at local support group meetings.
A dwindling Down syndrome population, which now stands at about 350,000, could mean less institutional support and reduced funds for medical research. It could also mean a lonelier world for those who remain.
“The impact of these changes on the Down syndrome community is going to be huge,” said Dani Archer, a mother in Omaha who has set aside other Down syndrome volunteer work to strategize about how to reach prospective parents.
The 5,500 children born with Down syndrome each year in the United States suffer from mild to moderate mental retardation, are at high risk for congenital heart defects and a variety of other medical problems, and have an average life expectancy of 49. As adults, some hold jobs, but many have difficulty living independently.
“There are many couples who do not want to have a baby with Down syndrome,” said Deborah A. Driscoll, chief of the obstetrics department at the University of Pennsylvania and a lead author of the new recommendation from the obstetricians’ group. “They don’t have the resources, don’t have the emotional stamina, don’t have the family support. We are recommending this testing be offered so that parents have a choice.”
But the richness of their children’s lives, parent advocates say, is poorly understood. Early medical intervention and new expertise in infant heart surgery stave off many health problems; legally mandated inclusion in public schools has created opportunities for friendship and fostered broader social awareness of the condition.
With no formal financing or organization, parents are arranging to meet with local obstetricians, rewriting dated literature and pleading with health care workers to give out their phone numbers along with test results. Medical professionals have for the most part responded with caution. Genetic counselors, who often give test results to prospective parents, say they need to respect patients who may have already made up their minds to terminate their pregnancy. Suggesting that they read a flyer or spend a day with a family, they say, can unnecessarily complicate what is for many a painful and time-pressured decision.
Their goal, parents say, is not to force anyone to take on the task of parenting a child with disabilities. Many participants in the ad-hoc movement describe themselves as pro-choice. Yet some see themselves as society’s first line of defense against a use of genetic technology that can border on eugenics.
“For me, it’s just faces disappearing,” said Nancy Iannone, of Turnersville, N.J., mother to four daughters, including one with Down syndrome. “It isn’t about abortion politics or religion, it’s a pure ethical question.”
Others admit freely to a selfish motive for their new activism. “If all these people terminate babies with Down syndrome, there won’t be programs, there won’t be acceptance or tolerance,” said Tracy Brown, 37, of Seattle, whose 2-year-old son, Maxford, has the condition. “I want opportunities for my son. I don’t know if that’s right or wrong, but I do.”
Ms. Brown has taken it upon herself to serve as a community resource on Down syndrome for prospective parents. She was encouraged when a counselor at the University of Washington Medical Center sent her an e-mail message recently with a question from a patient.
What developmental age equivalent, the patient wanted to know, do most people with Down syndrome reach?
For parents on an e-mail list where Ms. Brown solicited answers, the question underscored the difficulty in conveying the pleasure of parenting a child with Down syndrome to someone who has the option to reject it.
“Verbally,” wrote one mother of her teenager, “she’s at a 6-month level, but what 6-month-old do you know who can climb out a window and dance on a roof?!?!? We joke that she could climb Mt. Everest.”
“If someone had told me Sam would still be in diapers at age 5 — ugh — I probably would have died,” wrote another. “Living through it, not such a big deal. Because you don’t give birth to a 5-year-old, you grow with and love this kid for five years.”
Doctors have long recommended an amniocentesis test for pregnant women 35 and over, whose age puts them at greater risk for chromosomal defects. But because it carries a small risk of miscarriage, it has not been routinely offered to younger women, who give birth to the majority of children with Down syndrome.
Now, with a first-trimester sonogram and two blood tests, doctors can gauge whether a fetus has the extra 21st chromosome that causes Down syndrome with a high degree of accuracy and without endangering the pregnancy.
But many parents see expanded testing as a step toward a society where children like theirs would be unwelcome. The Newsweek columnist George F. Will labeled it a “search and destroy mission” for a category of citizens that includes his adult son, Jon Will.
Dr. Brian Skotko, a medical resident who has studied how mothers were told of prenatal diagnoses, found a high level of dissatisfaction. He said that most doctors have little or no training on how to relay a prenatal diagnosis of Down syndrome.
When he talked to obstetricians, geneticists and medical students at Massachusetts General Hospital in Boston about the subject last month, though, he was questioned sharply.
One doctor asked about studies suggesting there is a higher risk of early-onset Alzheimer’s disease in people with Down syndrome, potentially saddling parents with another caretaking burden as they themselves age. Others take issue with the notion that they do not give parents a balanced portrayal of the condition.
“It’s a mistake to say ‘your baby is going to be mentally retarded, you should have a pregnancy termination,’ ” said Dr. Allan Nadel, director of prenatal diagnosis at the hospital. “By the same token, I don’t think it’s quite fair to say ‘these are wonderful lovely human beings, you can deal with all of their problems and it’s not that big of a deal.’ We strive to have the proper balance.”
Parent advocates have some advice: don’t begin with “I’m sorry,” or “I have bad news,” as many of their own doctors did.
Weeks after Patricia Lanter decided to continue her pregnancy, having learned that Down syndrome had been diagnosed in her fetus, her doctor reminded her that she could still get an abortion in Kansas if an ultrasound indicated the baby would need heart surgery. Ms. Lanter, an emergency physician from Norwich, Vt., has secured an invitation to lecture the obstetricians in her hospital this summer.
In Wilmington, Del., Kristin Pidgeon recalled her doctor’s gloomy forecast for a local hospital audience: “She may be able to count change for the bus,” he had said of her as-yet-unborn daughter. “But what’s going to happen when the bus doesn’t come?” (Her daughter Aliza, now 5, does not yet take the bus, Ms. Pidgeon said, but she does ride horses as part of her therapy.)
In the Detroit suburbs, Ms. Talbot is still working out the best strategy to drive her points home to medical professionals. When one doctor suggested she had chosen to show them only “high-functioning kids” like Sarah and her own daughter, Megan, she asked Trevor Taylor, who lacks the ability to communicate verbally, to join the lineup.
At the Henry Ford visit, Mr. Taylor, 19, a natural ham, acted out his speech as Megan, 18, read it, before hitting the music and signing along to “What a Wonderful World.”
At the end, he blew a kiss to the audience. Then he hugged his mother.
Sedated Hearing Exam
Posted by familysnows on 07 May 2007 | Tagged as: Elly
Today Elly had a sedated ABR (Auditory Brainstem Response Hearing Test) to get individual ear information and make molds for hearing aids. She was under propofol sedation for 2 hours as the audiologist checked responses. She ended up checking some frequencies more than once as she got normal hearing in Elly’s right ear and only a mild loss in her left ear (the one with the biggest perforation). WOW! Over the past two weeks Elly had soundbooth audiometry at two different offices by two different audiologists showing a moderate hearing loss seemingly in both ears. They really felt like the testing was very consistent and repeatable ….. they almost made her ear molds last week and then decided to go for this ABR. She passed her newborn hearing screening and we had opted against doing the sedated ABR when she was younger, which really worked out well for us now. They likely wouldn’t have repeated the test at this point and would have just assumed her hearing loss was due to the perforations (which it is). This way we found out that her hearing loss is much milder than we had thought and it is unilateral. We are so thankful because now our game plan is a lot different. They did make a mold for her left ear and we are just going to experiment with a few different scenarios.
One scenario involves a loaner hearing aid to see how she responds with everything amplified in her left ear. The other involves using an FM system and just amplifying speech. The biggest puzzle (and most concerning to me) is why she did not respond at all to the lower dB’s at either hearing test. They were shocked too because her responses had been so consistent. She clearly understood the task and did well with higher volumes. There are probably a lot of possible answers like she’s two, or the sounds didn’t mean anything to her but we still need to make sure she’s processing auditory information properly.
Good news though … we are thrilled for Elly. Stay tuned for updates as we journey through the options. Thanks for the thoughts and prayers.
