Monday, October 20, 2008

October School Update

School is still going really well, I think we really made excellent choices when picking our curriculum. Of course we spent quite a bit of time researching our options and really focused on ones that seemed geared towards Gesserine's strengths.

Reading: Most of it had been review because she already knew her letter sounds, but since we were starting with a new approach I didn't want to start in the middle. I also wanted to emphasis the sounds making sure Gess said them correctly. This last week though we began working on word blends which was something new. We started with Sa, Se, Si, So, Su. For the first time Gess was listening for more than just the first letter of the word, she had to listen for the first blend. We spent the whole week on just these beginning blends and by the end of the week she was doing pretty good recognizing the proper blend. Now we will begin adding letters to the end of the blend. She is getting good with her worksheets and can do some of them on her own now.

Remember, even though she is just now learning phonics, she has been reading by sight for a few years now. Her sight vocabulary is awesome and her ability to sound out new words on her own is amazing. Now granted its not all that consistent and she still gets many wrong but that is sometimes because the words have letter sounds she has not yet been taught such as long vowels, ph, sh, th, etc. Well, we began the Book-It Reading Program this month which is sponsored by Pizza Hut. The kids must read so many books or pages each month and if they do it they earn a free personal pan pizza. Gesserine's goal is that she must read 12 books a month. Before you panic like my mother did, realize these are early level one reader books. However, this last week she read Mr. Brown Can Moo, Can You! This was the longest book she has ever read on her own. It was awesome! Not only could she read it but making the sounds in it are so helpful for speech! So far she has read 8 books and I am sure she will be earning her pizza soon!

Math: So far it has still been pretty much all review too. She has had to build, say and write numbers 0-9. She is sometimes given the number to build, other times she has the item built and has to give the number. She has also had to recognize and count, rectangles, triangles, and circles. Her counting at that level is great. I was also going to work on dice spotting so she could recognize numbers 1-6 without having to count them. There was no need. She can already do that! Whether its on dice, a worksheet or an object, she can easily recognize small numbers. We have a couple more weeks of review type skills and then we will be introducing new material! We will be learning place values! I am so excited. She really loves doing her Math and always says "Math U See" when its times. She also likes watching the DVD with me that introduces each new section. We have also introduced some addition to her even though its not yet in her workbook since she plays computer games that require it. We make our own math problems with objects and I will be sharing that activity in the future.

Writing: I ordered and received her new Handwriting Without Tears curriculum. We have only had the chance to do it for one week, but it went really well I think. We are working on letters that begin in the top left corner. We started with F and this week we do E. She is also getting better at writing her name. If only she could master that pesky "s." Her G and E though are awesome! I am encouraged that she will have all her capitals mastered soon and maybe even begin learning how to make those smaller ones. Not only does HWT have a hands on approach that is very helpful they also have workbooks geared towards helping with consistency. They also have many other teaching ideas and strategies that help special needs learners. Notice how in her workbook she was able to trace every other letter. They say, "In books where children copy a whole line of letters, the letters get progressively worse because they're copying from their own copies. Children get better results if they practice with a model for each copy. The workbook has a model letter in every other gray block, and children write just one letter beside the model. The result is better letters." That sure explained our problem with Gess. Her first letter would be great, but by the end it was hardly recognizable! Here is a picture of her workbook page.

Notice that the top shows them how to make the letter with blocks and then on a chalkboard slate. She has those and does that before using the workbook. The slate and mat even have smiley faces in the corner to help them know where to begin the corner starting letters. Then they have them make the letters in gray blocks. This is shaded to resemble the slate they are familiar with using. It all transitions them to writing on paper. This is a great tool for them to learn proper letter size and works better for Gess than typical preschool writing tablets. Last year they had much larger areas to make their letters, but Gess, as you can see, is finally able to make her letters stay in the smaller blocks. Her motor skills are improving, and we will be getting lots of good practice with this material.

Science: We have reviewed basic colors and shapes but have also learned about finding them and using them in our world. She is now learning the concept of things like big and little, rough and smooth, soft and hard, narrow and wide, etc. She has taken two Science quizzes so far and got a 94 on each of them! Of course her exams were oral which is how we do her lessons as well.

Social Studies: She has also had one quiz in Social Studies for which she also scored a 94! It too was an oral exam. So far she has learned ways in which we communicate with others, how God has made her special and cares for her, about our family and what they do. Now we are learning about manners and being polite and kind. Next we are going to learn about communicating with sound.

She finally started AWANA and finished her beginning Gate book! While she did really well playing the games, doing the memorizing and staying with her class, after about 45 minutes she was done. That seems to be about the key timing for her in any group activity. So anyway, I tried keeping her there with me in the office at that point, but that didn't go well so from now on I just leave and take her back home to daddy. I hope by the end of the year that she might be making it to the end though.

Her ballet class is still going really well and we will be able to sit in next month and watch them! I can't wait for that! We have done some art, though that is one of my weaker areas, however I found a great blog to help with some ideas for it: Art Projects for Kids. She is improving her cutting and gluing skills as well and we are still doing speech activities on a regular basis. That sums up this month's school update.

Monday, October 13, 2008

Gesserine's Heart Surgery

As I previously mentioned Down syndrome is usually accompanied with various medical problems and some can be quite serious. Gesserine was born with a congenital heart defect. In her case the valves in her heart were not working properly and it was allowing the oxygenated and un-oxygenated blood to mix in the heart. At 2 1/2 months of age she had an AV Canal repair done. When she had her open heart surgery the Kansas City Star was doing a piece on her surgeon, Dr. Lofland. While doing this article they followed Gess from her pre-op visit, during her actual surgery all the way to our follow up visit afterwards. There were even full color photos of the surgery itself in the paper! I thought I would share the article for those who might want to learn a little bit more about it. They tell about Gesserine's surgery at the beginning and finish up at the end with a little bit in between. Of course you will learn more about her surgeon than Gess, but he is the man who skillfully repaired her heart and we are thankful for all that he did. Below is the article (without the photos). I apologize about the lack of formatting and paragraphs, thats how the article arrived in my email.


Kansas City Star

Kansas City Star, The (MO)

April 28, 2002 Surgeon with a heart Pediatric specialist make an art form of a science
Page: 14
Article Text:Two-month-old Gesserine Sevedge lies spread-eagle across the operating table - a wee bulge covered with a blue surgical drape and surrounded by towering adults in sterile garb: nurses, technicians and an anesthesiologist.And a surgeon with a pneumatic jigsaw. With several quick buzzes, Gary K. Lofland unzips her chest through a window in the blue fabric and inserts a stainless-steel frame to pry apart her sternum. Inside pulses a heart the size of an infant's fist. Within minutes 13 plastic tubes radiate from Gesserine's chest cavity. Each tube, connected to a vein or artery or to the heart itself, begins carrying blood pumped from a heart-lung device, called a perfusion machine. A line on the computer monitor dips, then goes flat. Her heart has stopped. Time for Gary Lofland to go to work.An elite group Lofland, 51, is the chief of thoracic and cardiovascular surgery at Children's Mercy Hospital. Since his arrival in 1997, the number of heart surgeries here has more than doubled, to about 500 per year. Mortality rates have dropped to between 1 percent and 2 percent - the national rate is about 3.5 percent. Lofland specializes in pediatric cardiac surgery. The maladies he fixes are almost all birth defects: holes inside the heart, deformities, transposed arteries and other things with long medical names that seem hard to explain - and repair. "There's 12 to 15 pediatric heart surgeons among the elite in the nation, and Gary's one of them. It's a very small group," says James St. Louis, an assistant professor of pediatric surgery at Brown University in Providence, R.I. He spent six months at Children's Mercy last year in what Lofland calls "finishing school." "The reason I went to Kansas City was because of the volume of congenital cardiac cases," St. Louis says, "and because of the national reputation of Gary Lofland among heart surgeons."A must-stop-destination Next year Children's Mercy will unveil the Center for Congenital Heart Disease, a hub for all of the hospital's cardiac resources. Surgeons, cardiologists, nurses, perfusionists and database employees will occupy the new department. Four new operating rooms are also under construction. Lofland's group moved into the new fourth-floor headquarters earlier this year. He plans to hire a biologist to do basic cell research, too, in hopes of finding new ways to heal hearts. "We're on the cutting edge now in terms of practice," he says. "I want this place to be a must-stop destination for anyone from around the world involved in pediatric cardiovascular services. When cardiac surgeons come to a meeting in this country, I want them to have to visit Kansas City to make their visit complete." Lofland's reputation has been boosted by his academic credentials, too. The author and co-author of scholarly research, he took over in January as editor of Progress in Pediatric Cardiology, an international medical journal published in Amsterdam.Days and nights Lofland doesn't sleep much or eat often. He's up at 5 every morning, unless he exercises. Then he hops out of bed at 4 to run or use his treadmill. (He's 6 foot 3 and 195 pounds, though he vowed to drop to 185 by the time this story was printed.) Breakfast consists of juice and some vitamins while taking a quick peek at the Weather Channel or checking sports scores. By 6 or 6:15 he's at the hospital, prowling the intensive care unit, checking on the children he operated on the day before. At 6:45 he'll meet his surgical team for official rounds, checking on all of their patients. He usually leads, striding ahead of the pack to the next patient. On most Mondays through Thursdays, he's in surgery for the rest of the day, each procedure lasting two or three hours, each day bringing two or three surgeries - and sometimes four or five. He'll do rounds in the afternoon and catch up on paperwork, usually going home between 6 and 8 p.m. Then he eats, often for the first time that day. Bedtime is 9:30 or 10, unless he's worried about an unstable patient. He says he'd rather stay up until midnight or so if he has to take a call or go back to the hospital; if he gets awakened, it's hard to go back to sleep. Of course this doesn't leave much time for hobbies or relaxation. But Lofland says he's used to work. He began working summers full time when he was 12 or 13 and also worked 40 hours a week while in medical school. "Why do you need a hobby when you can be an artist and a scientist and a clinician all at the same time? It's fun and it's challenging," says Richard Hopkins, chief of cardiothoracic surgery at Brown University and Hasbro Children's Hospital in Providence. Hopkins went to med school with Lofland, was later a colleague at Georgetown University and is now a peer and friend. Lofland's schedule doesn't really leave him time to hobnob in Kansas City society, and his name rarely appears in the newspaper, though he says he contributes to local charities. His administrative assistant, Arta Williams, says Lofland is intensely organized and demanding - but unfailingly pleasant and polite. "He always thanks you for everything," Williams says. "Before he leaves for the night, he always tells me thank you for the things I did that day. He's always been nice to me - very, very kind."Meeting of the minds It's 7:20 a.m. on a Friday, a day reserved for meetings with peers as well as patients; usually no surgeries are scheduled. Twenty-three medical experts pack a darkened, narrow conference room in the interior of Children's Mercy. There's an informal pecking order here. Lofland sits at the front table in chair No. 1. His team of nurses and a surgeon occupy the table behind him. Cardiologists and nurses fill the seats around them. Standing on a platform, surrounded by computer gear, a cardiologist narrates as the group studies big-screen monitors on the front wall. Red and blue splotches, depicting blood flow, pulse across the monitors. There's sound here, too, whooshes of blood coursing through arteries, veins and heart chambers. The group studies the EKGs, echocardiograms, angiograms - even old-fashionedX-rays. Every Friday morning after rounds, the cardiologists describe the symptoms and diagnoses for their patients, and Gary Lofland decides whether his surgery will fix the problem. Today's subjects: seven children, from 2 months old to 10 years, with congenital heart defects. It's easy for a layperson to drown in medical jargon during this conference: Cyanosis. Stenosis. Resection. Fenestration. Aortic regurgitation. Afterward, Lofland strides purposefully down the hall. Inside the examining rooms the jargon takes on faces: patients he'll meet later in the operating room.He'll fix it Lofland politely knocks on the door of an examining room and steps inside. The room is beige, but it's set off with a colorful, geometric border. Institutional but cheerful. Inside sits Bryce Huffmaster, 18, chin in hand. He's had a heart valve replaced twice, but his body is rejecting the valve, again. Lofland sympathizes but quickly explains that the problem can be corrected by using a different kind of valve. He says the new proceduredure has been proven to be more successful. The mood is glum, but Lofland promises to repair the problem. Inside door No. 2 sits Lori Sevedge, holding her 2-month-old baby, Gesserine. Born with Down syndrome, Gesserine has a hole in her heart. Lofland, in low, dulcet tones, explains that he'll fix it. Lori smiles as Lofland gives Gesserine a perfunctory chuck under the chin. Behind the third door sits Michelle Dulle and her husband, Michael. She's pregnant, and cardiologists have already figured out that her baby needs a heart operation. Michelle and Michael anxiously lean forward, holding hands, fingers intertwined, listening intently to Lofland. By the time he finishes explaining how the operation will work, the pair are grinning and then laughing. Lofland's manner soothes. "He made me feel like everything was under control - he seems to know his job," Sevedge says. "He's to the point. He was focused on what he was doing, and he was focused on her."'Don't worry about it' Lofland's soothing approach impresses doctors, too. Laura Fitzmaurice is division chief of emergency medical services for Children's Mercy. An emergency room doctor who still pulls regular shifts, she's seen the gamut of medical problems. She'd also known her whole life that she had a congenital heart defect, nothing that had ever been a problem. Until she began to get short of breath and to wheeze. Her cardiologist said she needed surgery and suggested the Mayo Clinic. More than anyone, Fitzmaurice knew this would be a serious operation - her chest would be opened and her heart stopped while a hole was closed and a muscle removed. She wanted to know for sure that surgery was necessary. So she asked Lofland if she should go. "The first thing he said was, 'I can do that. Don't worry about it. I can fixthat,' " Fitzmaurice says. "He has a persona that is very calming - it makes you relax. He does instill confidence; he lets you know that he can handle it." So rather than leave town for surgery, Fitzmaurice opted to stay in Kansas City and have her surgery at Children's Mercy. Lofland's unflappable and unpretentious style convinced her. "He's also very humble," she says. "He doesn't come across as somebody that has a big ego. He makes it seem like he's sewing up a cut - almost like an everyday thing. He doesn't make it seem like he's God or anything."His Virginia home It's 5 a.m. on a glorious spring Saturday. Gary Lofland eases out of bed, dresses and heads out the door to his white Dodge four-wheel-drive pickup. He rattles down a winding lane, stopping a few miles away at the country store. He drinks a cup of coffee and drives back. By the time he gets home, Jan, his wife of 23 years; son Kiernan, 14; and daughter Glennis, 12, will be awake. Or maybe not. At least, he says, he "won't feel as guilty about starting the tractor" and getting to work. Jan's a master gardener, so he'll spend the day moving dirt or turning ground for her. He'll says he'll stop sometimes to toss the football with Kiernan. Or go down the lane with Glennis to pick up the trash that's accumulated in the ditches. Maybe chop firewood for winter. The Loflands live in a Colonial brick house perched on a bluff above the river. The James River. In Virginia. Oh, sure, during the week, he's settled in an apartment near Crown Center. But he and Jan, a registered nurse, decided in 1997 that he'd work in Kansas City and that the family would stay in rural Crozier, Va., outside of Richmond, where he last practiced. They thought their children would benefit from the stability of staying in their schools. And the arrangement lets Lofland pull the long hours he thinks are necessary for his job. "It has let me focus entirely on the development of this program," Lofland says. He often flies home on weekends, or the family comes to Kansas City. Lofland says he finds time to talk to Jan "eight or nine times a day on the phone." He calls often enough that Glennis simply answers, "Hi, Daddy!" when the phone rings. Last year Children's Mercy hired a second heart surgeon, James E. O'Brien Jr. Until then, Lofland says, he was always tethered to the hospital. It was hard to relax when he went home to Virginia. "Now, when I'm there," he says,"I try to focus on being there. Because I know that things are under control and well-managed here."Fascination with anatomy Lofland was born in Sussex County, Del., a shipbuilding community, but he traces his Irish lineage back to 1690 in Virginia. His father was an undertaker, though he says his parents shielded him from the technical aspects of the funeral business - embalming, for instance. His father's anatomy books got him interested in medicine. By the time he was 12 he had a "fascination with anatomy" and decided to become a doctor. He got his medical degree from Boston University, then hopped around the country and the world, working for the public health service in Montana, as a resident at Duke University, for a year at the Hospital for Sick Children in London, and back at colleges in the United States. At the Medical College of Virginia, he performed "50 or so" heart transplants, an operation that Lofland describes as "really not all that exciting or challenging" compared to what he's doing now. His current work, he says, is "like starting out with a heart kit and trying to make something that actually works." Before he came to Kansas City he was the sole surgeon for the Center for Congenital Heart Disease in Richmond, Va., and a professor at Georgetown University. In Virginia he operated on children and adults. "I did the adult practice for relaxation," he says half-jokingly.Hitting the ground running Keith Ashcraft says he pursued Gary Lofland. Ashcraft, who retired from Children's Mercy in 1999, was surgeon in chief. He wanted the hospital to have a full-time cardiac surgeon - and he wanted it to be Gary Lofland. Until then Lofland had seen Kansas City only as he passed by on the interstate. After Ashcraft finally lured him for a visit, Lofland says he saw "unlimited potential." "I saw a hospital that was bound and determined to be the nicest children's hospital in the country. I found an extraordinarily competent group of people that accomplished things without any pomp." So he loaded up and moved. With his father, Joseph, driving one car and he and Jan driving another, they left Virginia at 4 a.m. on a Sunday and drove straight through to Kansas City, arriving about midnight. The next morning he went to work, performing heart surgery on two priority cases that had been waiting for his arrival. "It's called hitting the ground running, and we've been running ever since," Lofland says. Fred Burry, executive medical director and senior vice president of Children's Mercy, says, "Gary brought to the program an intensity and vision. He wanted to build a program that would not be outshone by any program in the United States." As to how much that costs the hospital, Burry will only say "a lot." Lofland says he made his financial arrangements confidential as a term of employment. Other surgeons and experts in the field say that a top, nationally regarded surgeon such as Lofland would make $750,000 to$1 million a year, or more. "One of the keys about compensation is that very high-performing people who have considerable expertise can command considerable compensation," Burry says.Legendary concentration Lofland deftly slices open the heart of Gesserine Sevedge, gingerly probing the inside until he can find the hole in parts of the top and bottom, left and right of her heart - all four chambers. Scientifically it's called atrioventricular septal defect. It's quiet in the operating room. Blood pulses through the perfusion machine; the ventilator whispers, pumping air. Lofland murmurs orders to the nurses, perfusionists, anesthesiologist and assisting surgeon. His concentration is legendary. "He is the most focused surgeon I know," says St. Louis, the Brown University professor. St. Louis says that in other operating rooms, the surgeon sometimes plays music; sometimes voices are raised. Sometimes the noise distracts. But not in Gary Lofland's OR. "If you notice, in his operating room, it's quiet; there's no music blasting," St. Louis says. "People are focused on their jobs." Before he begins cutting on any patient, Lofland says he's considered all the options, considered all possible outcomes. "I go step by step through many of these operations the night before," Lofland says, "before I go to sleep." Under the snarl of plastic tubes tethered to the heart, Lofland performs an intricate ballet of incisions and suturing to repair young Gesserine's heart. He describes it as "rearranging the three-dimensional geometry of the heart." Then he checks for leaks. As he begins removing the tubes from the perfusion machine, blood begins to flow naturally, allowing little Gesserine's heart to start beating again. He's in and out in about two hours. Lofland uses wire sutures to pull the baby's sternum back together. Pam Dennis, Lofland's first assistant, sews up the chest while Lofland marches off to the intensive care unit to brief personnel on Gesserine. As he walks, he talks. "That," he says matter-of-factly, "is infinitely more difficult than a heart transplant."Art and science "I pride myself on being a surgeon," Lofland says, explaining that there's something else that takes over beyond brains and dexterity. "What we do is an art form as much as a science. I can't draw. I can't paint. But I understand the three dimensions of the heart. It's important to me to take something that's difficult and make it look routine." In a rare moment, Lofland sheds a little of his characteristic humility: "Sometimes I come out of surgery and think: There's only a handful of guys that could do that." Tim Janicke is the photo editor for Star Magazine. To reach him, call (816) 234-4791 or e-mail more information To find out more about the Center for Congenital Heart Disease or about Children's Mercy Hospital, call the hospital's community relations department at (816) 346-1370 or consult your pediatrician. Caption:
On the cover: Gary K. Lofland wears special headgear with a light and a television camera when he performs heart surgery at Children's Mercy Hospital. A magnifier is attached to each lens of his eyeglasses.Gary K. Lofland listens as cardiologists describe the symptoms of their patients. In this weekly conference, Lofland decides which patients will benefit from open-heart surgery.During this operation, 2-month-old Gesserine Sevedge's heart has been stopped. Lofland (right) gingerly reconstructs the tiny heart with the assistance of Eric Sandwith (left), a cardiac surgery resident at Mid-America Heart Institute at St. Luke's Hospital.Bryce Huffmaster (center) underwent heart valve replacement when he was 14 and 16. Now he is 18, and the valve is failing again. Lofland explains how he will replace it with a new one that should be permanent. At right are Huffmaster's father, Leon, and mother, Jeanie.Lori Sevedge holds 2-month-old Gesserin! e during a consultation with Lofland. Gesserine's surgery was successful. She had been lethargicnow, her mom says, she's energetic and makes baby sounds, "laughing and cooing."Michelle and Michael Dulle talk about their unborn child's heart problem. After the baby, Jonathan, was born Feb. 20, doctors decided he could get by without open-heart surgerythey snaked a catheter into his heart to repair a closed valve.Above: Unlike personnel on the periphery of the operating room, Lofland must scrub carefully and wear sterile gloves before he operates. Below: The myriad tubes that reach out of Gesserine's chest are routed to a machine that circulates and adds oxygen to her blood.Because he lives in an apartment nearby, Lofland can walk to and from work. He also has a home in Virginia, where his wife and children live.Photos (9, color)TIM JANICKE/The Kansas City Star Copyright 2002 The Kansas City Star Co.
Record Number: 10176872

Monday, October 6, 2008

Life With Down Syndrome

As you all probably know, my daughter is only 6 (almost 7 years old) so I do not really know what the future holds for her. What I do know is that it offers her more than I ever dreamed it could when we first got the diagnosis that she had Down syndrome. There have been great advances both medically and socially that have allowed a person with Down syndrome to live a fulfilling life. One of those great achievements have been early intervention.

It used to just be assumed that a person with Down syndrome could not really learn or adapt well and therefore they were never given an opportunity to do so. They have since learned that not only are they able to learn but sometimes there are medical reasons for some of their delays. For instance part of their speech difficulties are sometimes due to hearing loss and their reading delays actually appear worse than they are when the child suffers from poor vision. Because they now know these facts children with Down syndrome are screened at a very early age to catch these sorts of problems and correct them before they hinder learning and development. Gess had tubes put in her ears at about age 1, not because she had ear infections but because the canals in her ears were so small that they were not draining and therefore it made it more difficult for her to hear. They also screened her vision when she was only a year old. She did not need or begin to use glasses until she was four but these two things alone have tremendously affected her ability to interact with her surroundings let alone assist in her learning. Those are just two examples of how early intervention has improved the quality of her life.

There are programs to assist families with early intervention. In Kansas it is called Birth To Three. Once you enroll they help to not only check for hearing and vision loss but also offer occupational, physical, and speech therapy. They help provide you with all the resources you need to give your child the best start possible. I am a strong advocate for early intervention programs for children that have delays or challenges such as Down syndrome. I have found this tool an invaluable one in our life and thank the great ladies who visited our house each month (often more than once a month). They were the ones who taught me how to teach my daughter to do things that come naturally to most children such as rolling over, sitting up, crawling, walking and even eating. (Yes, Gess did not eat or drink by mouth for the first year of her life!)

Children with Down syndrome are also being mainstreamed into public school and other programs and they are finding that they adapt and do really well. Integration is not only helping our children but when its done at an early age it helps to curb stereotypes and bigotry that often occurs. When you have always known a child with Down syndrome to you there is nothing "strange" about them. I love watching Gess interact with other children. Young kids just accept you however you are. If they can keep that perspective as they get older the world will be a better place.

Of course some of us also choose to home school children with special needs and that movement is on the rise. While we realize that integration and socialization with peers is important we also find that being able to fully individualize their educational program gives them the greatest level of success. In either case our goal is to teach our children skills that will help them to live as independently as possible when they are older. And many are doing just that.

Adults with Down syndrome are starting to attend college and get jobs to help provide for themselves. I keep learning of or reading about some other person with Down syndrome who has done something great. Karen Gaffney seems to be my favorite. She went to college and is a certified teacher's aid! She is also a great swimmer and was the first person with DS to swim across the English channel as part of a relay team and recently swam solo across Lake Tahoe. She has a swimming camp for children with special needs which encourages them to get into shape and challenge their own abilities. What a great story of hope she offers us all!

What does the future hold for Gesserine? I don't know. What I do know is that I am not going to do anything to limit her options. If she has a dream I will encourage her to chase it even if others say it is impossible. There may be things she will not be able to do and we will accept that if and when that limit comes. Until then the sky is the limit and Gess is my inspiration. Whenever you think life is unfair or complain that you hate life remember that there are many who had greater obstacles to overcome and instead of complaining about it they smile. They find life fulfilling why can't we? Maybe its because we are the ones limiting ourselves? That's something to think about anyway.

For now Gess, like any other child, will continue to form her dreams and we will encourage her.

Maybe she will be a fireman

A talented musician

Or even a Pirate.

Aye Mate!

Wednesday, October 1, 2008

What is Down Syndrome?

Some of you might not know this but October is Down Syndrome Awareness month and at this time support groups all across America will be having Buddy Walks to raise funds to support education, research and advocacy for people who have Down syndrome. Many people do not really know much about Down syndrome. I know that when my daughter was born I certainly did not. My knowledge of DS was limited to what I learned while watching Life Goes On which starred Chris Burke who has DS. Of course these days, people do not even know what that show is, let alone what DS is. All I knew was that people who had Down syndrome had intellectual disabilities (which wasn't how it was referred to at the time). I knew that they were now attending school with their peers, but I knew that it was tough because they were not on the same level as their peers. What I didn't know was that the mental aspect was only one of many conditions that accompany DS. Many people who have Down syndrome often suffer from heart defects, thyroid trouble, vision and hearing problems, and many other medical conditions. So just what is Down syndrome and how does having DS affect the life of the person who has it? While I will probably not be able to answer all your questions, let me at least start by sharing some basic information about Down syndrome.

First of all, you might want to know why it is called Down syndrome. Down syndrome (not Down's syndrome) was named for John Langdon Down an English physician who was not the first one to recognize its characteristics, but was the first one who classified them as a distinct condition.

Down syndrome occurs in 1 out of every 733 births and over 400,000 people in the U.S. have it. 80% of children with DS are born to women under the age of 35, although the incidences of birth do increase with the age of the mother. "People with Down syndrome have an increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia, and thyroid conditions. Many of these conditions are now treatable, so most people with Down syndrome lead healthy lives. " The most common traits are low muscle tone, upward slanted (almond shaped) eyes, and small stature. While all will have some cognitive delays most will have IQ's that only fall into the mild to moderate range of intellectual disability.

Down syndrome is a genetic disorder in which a person with DS will have 47 chromosomes instead of the usual 46. The most common form of Down syndrome is trisomy 21 (which is what Gess has) which is named such because it is the 21st strand of her chromsomes that has the extra one giving her three, rather than the usual pair. They believe it does this because the cell does not separate from either the sperm or the egg at or before conception and the extra chromosome is then replicated into every other cell in the body. About 95% of all cases of Down syndrome will be due to trisomy 21. The other less common forms of DS are mosaic (where some of their cells have 46 and others have 47) and translocation (where part of the 21st chromosome breaks off and attaches to another one).

There is a genetic test which will determine if your child has Down syndrome as it is not the type of condition which is diagnosed by looking at the symptoms alone. (If you want any assistance you can't get it without this test) They will draw some blood and look at the cells and will be able to see the condition. My daughter's test looked something like this. Notice how each chromosome is in pairs except for the 21st which has three.

So now that we know what Down syndrome is, what does it mean for the future of a person who is diagnosed with DS? In my next blog I will share both the positive and negative aspects of such a diagnosis. As you probably realize I will certainly be emphasizing the positive for I do not believe that the diagnosis of DS means that a life is not going to be fulfilling. Of course some of us may have to change the definition of what a "fulfilling" life must contain. I know I certainly had to readjust some of my priorities, but having done so has not only improved my daughter's life but my own as well! Life is what you make of it. That applies to every one of us with or without DS. At any rate, I hope you now have a little better understanding about what Down syndrome is. If you want to learn more visit the link below:

National Down Syndrome Society - About Down Syndrome


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