Showing posts with label Chromosome 17. Show all posts
Showing posts with label Chromosome 17. Show all posts

Sunday, February 5, 2012

Life With Trig: Sarah Palin on Raising a Special-Needs Child

By former Alaska Governor Sarah Palin  -  Reprinted in its entirety from the Daily Beast

Last week, Rick Santorum and his family offered us a reminder of what really matters. When his 3-year-old daughter, Bella, born with Trisomy 18, was hospitalized with pneumonia, Rick left the campaign trail to be by her bedside. In the middle of this very heated campaign season, many of us prayed through tears for Bella’s health and added prayers of thankfulness for a public example of someone’s sacrifice made with the right priorities.

santorum-and-Bella

It’s a sacrifice every parent and caregiver of a child with special needs sympathizes with. Families of children with special needs are bonded by a shared experience of the joys, challenges, fears, and blessings of raising these beautiful children whom we see as perfect in this imperfect world.

During the 2008 presidential campaign, on rope lines at rallies across the country, my husband, Todd, and I met so many of these families and caretakers, and I’ll never forget them. There was an instant connection—a kind of mutual acknowledgment that said, “Yes, these children are precious and loved. Yes, we face extra fears and challenges, but our children are a blessing, and the rest of the world is missing out in not knowing this.”

Every parent struggles with juggling the commitments of work and family. Women, especially, know this well. Over the years, I’ve learned that women can “have it all,” just not all at once. For me, it was a lesson learned through the school of hard knocks, but it was one my own mother made me aware of when she calmly told me that as a working mom in the rough-and-tumble political arena, I would have to make tough choices. We all do. In making decisions about my career, I’ve put my family first, and I’ve never regretted it, although it has meant periodically putting particular pursuits on the back burner.

When I discovered early in my pregnancy that my baby would be born with an extra chromosome, the diagnosis of Down syndrome frightened me so much that I dared not discuss my pregnancy for many months. All I could seem to muster was a calling out to God to prepare my heart for what was ahead. My prayers were answered beyond my shallow understanding of what true joy could be. Yes, raising a child with special needs is a unique challenge, and there’s still fear about my son Trig’s future because of health and social challenges; and certainly some days are much more difficult than if I had a “normal” child.

Sarah Palin and Tea Party Express Stops in Phoenix

Sarah Palin with her son, Trig., Jack Kurtz / ZUMA-Corbis

Many everyday activities like doctor’s appointments and social gatherings and travel accommodations and even mealtimes and a solid night of sleep are that much more difficult, but at the end of the day I wouldn’t trade the relative difficulties for any convenience or absence of fear. God knew what he was doing when he blessed us with Trig. We went from fear of the unknown to proudly displaying a bumper sticker sent to us that reads: “My kid has more chromosomes than your kid!” He may not be the next Wayne Gretzky, but our hearts are filled with so much pride watching Trig giggle with his sisters’ puppies, or sway to the rhythm of his Little Angels DVDs, it’s as if he were hoisting the Stanley Cup.Granted, I know I may be more fortunate than others to have loving friends and a big, supportive family I call on to help, including a husband who spends many sleepless nights with this restless little one. (And Todd actually makes Trig’s puréed baby food!) Others aren’t so fortunate, and in our thankfulness I am made more compassionate toward others who have less.I often think now, what would we do without Trig? He’s our “everything that really matters.”Trig is almost 4 years old now, and every morning when he wakes up, he pulls himself up, rubs the sleep out of his eyes, looks around, and then starts applauding! He welcomes each day with thunderous applause and laughter. He looks around at creation and claps as if to say, “OK, world, what do you have for me today?”

My family knows that Trig will face struggles that few of us will ever have to endure, including people who can be so cruel to those not deemed “perfect” by society. The cruelty is more than made up for, though, when someone simply smiles at our son. Nothing makes me prouder. As I explained in a Thanksgiving article, I notice it happens often in airports. Travelers passing by will do a double-take when they see him, perhaps curious about the curious look on his face; or perhaps my son momentarily exercises an uncontrollable motion that takes the passerby by surprise. Perhaps, as an innocent and candid child announced when she first met Trig, they think, “He’s awkward.” But when that traveler pauses to look again and smiles, and maybe tells me what a handsome boy I have, I swell with pride. I am so thankful for their good hearts. They represent the best in our country, and their kindness shows the real hope we need today.

My family understands that up ahead, some days will be better than others. We will adapt and juggle things and work through it. But Trig applauds the day. And that’s what he teaches us. That’s our priority, and we’re blessed by it.

*Both these politicians have a personal stake in overturning ObamaCare which includes rationing of healthcare, whatever your choose to call it.

Related:

Team Up for Down Syndrome

Monday, May 25, 2009

A Genetic Clue to Why Autism Affects Boys More

Autism

Ten year-old Tristan Bonnert, who has autism, with his mother Delilah at their home in Columbia, S.C. - Mary Ann Chastain / AP

Among the many mysteries that befuddle autism researchers: why the disorder affects boys four times more often than girls. But in new findings reported online today by the journal Molecular Psychiatry, researchers say they have found a genetic clue that may help explain the disparity.

The newly discovered autism-risk gene, identified by authors as CACNA1G, is more common in boys than in girls (why that's so is still not clear), and the authors suggest it plays a role in boys' increased risk of the developmental disorder. CACNA1G, which sits on chromosome 17, amid other genes that have been previously linked to autism, is responsible for regulating the flow of calcium into and out of cells. Nerve cells in the brain rely on calcium to become activated, and research suggests that imbalances in the mineral can result in the overstimulation of neural connections and create developmental problems, such as autism and even epilepsy, which is also a common feature of autism. (See six tips for traveling with an autistic child.)

"Our current theories about autism suggest that the disorder is related to overexcitability at nerve endings," says Geri Dawson, chief science officer of Autism Speaks, an advocacy group that provided the genetic data used by the study's authors. "It's interesting to see that the gene they identified appears to modulate excitability of neurons."

For the new study, researchers at the University of California, Los Angeles (UCLA), combed the genetic database of the Autism Genetic Resource Exchange (AGRE), a resource of DNA from 2,000 families with at least one autistic child. The scientists focused on the more than 1,000 genetic samples of families in which at least one son was affected by the disorder, prompted by the results of an earlier study using the same database, which identified a rich autism-related genetic region on chromosome 17 that contained genetic variants more common in boys than in girls. While nearly 40% of the general population has the most common form of CACNA1G, one variant of the gene was more prevalent in autistic boys, researchers found. "There is a strong genetic signal in this region," says Dr. Daniel Geschwind, director of UCLA's Center for Autism Research and Treatment and one of the study's co-authors. "But this gene doesn't explain all of that signal or even half of it. What that means is that there are many more genes in this region contributing to autism." (See pictures of inside a school for autistic children.)

That's not surprising for a disorder as complex as autism — actually, a spectrum of developmental disorders involving impairment in language, social behavior and certain physical behaviors — with symptoms that range widely in number and severity. So far, studies have linked a handful of genes, all of which play a role in the way nerve cells connect and communicate, with autism spectrum disorders. It's likely not only that a large number of genes contribute to the disorder, but also that a different combination of genes — as well as unique interactions between genes and environment — are responsible for each individual case of autism.

So it's certainly a daunting challenge to begin teasing out the individual genes that may contribute to autism, as the UCLA team has with CACNA1G, but databases like AGRE make the job slightly easier. The next step will be to try to use known autism genes to help develop screening tools or early interventions. "We are going to have a much better understanding of the causes of autism over the next five to 10 years," says Dawson. "We're in a period of great discovery."

By ALICE PARK Tuesday, May. 19, 2009

Source: Time Magazine

Posted: Ask Marion – TrueHealthisTrueWealth

Related Articles:

A Link Between Autism and Testosterone?

Six Tips for Traveling with an Autistic Child

Inside a School for Autistic Children

Saturday, March 14, 2009

Blood Test Predicts Dementia Risk

A new test can help predict whether a patient will develop frontal lobe dementia (Frontotemporal Dementia or FTD). Next to Alzheimer’s, FTD is the form of dementia that strikes people most frequently at a relatively young age—younger than 65.

In FTD, large numbers of brain cells begin to die off in the frontal lobe, the foremost part of the brain which comprises about 30 percent of brain mass. The frontal lobe helps regulate behavior, movement, and mood, and is responsible for functions such as language. The first signs of FTD are changes in behavior and personality. In later stages, the victim suffers from memory loss.

Researcher Christine Van Broeckhoven and her colleagues found that a large percentage of people who have FTD have a genetic defect in chromosome 17. Those people produce only half the normal amount of a progranulin protein, and Van Broeckhoven discovered that a shortage of this protein, which is a growth factor, leads to cells dying in the frontal lobe. Additional results indicate that a lack of progranulin also plays a role in Alzheimer’s disease and Amyotrophic Lateral Sclerosis (ALS).

Krisel Sleegers, one of Van Broeckhoven’s scientists, has developed a test to measure the amount of progranulin in the blood. The test, which is simple and could be used on a large scale, will help doctors determine if someone is at risk of developing FTD long before symptoms appear. 

 

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