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Down Syndrome

Down Syndrome Poster Child
Jacob Spiegel

Down Syndrome Poster Child
Melina Lerma

Introduction

Down syndrome (DS) is a genetic disorder that is caused by an extra chromosome 21 that is present in all or some of the individual’s cells. There are three types of chromosome abnormalities in Down syndrome. The first is called trisomy 21 and is the most common form of DS. With trisomy 21, the individual has an extra chromosome 21, which results in a total of 47 chromosomes in each cell rather than the typical 46. The second is called mosaicism and is the least common form of DS. In this case, only some of the cells contain 47 chromosomes, while the other cells contain an accurate 46. The third type is called translocation where the extra chromosome attaches (or translocates) to a different chromosome, such as 14 or 22.

The additional chromosome is almost always the result of faulty cell division, in either the egg or sperm, resulting in 3 chromosome 21s (2 from the egg and 1 from the sperm, or vice-versa). Though the extra chromosome could come from either the father or the mother, only 5% of the cases have been traced to the father. Women age 35 years and older have a significantly increased chance of having a child with DS, however, 80% of children born with DS are actually born to mothers under the age of 35 years due to higher fertility rates.

DS is one of the most common chromosome abnormalities. It is estimated that the incidence is between 1 in 800 to 1,000 live births. There are approximately 350,000 individuals in the United States with DS. It occurs in all racial, ethnic, and socioeconomic groups. Recent research shows that slightly more males than females are born with DS in comparison with the general population.

Down syndrome was first accurately described in 1866 by an English physician named John Langdon Down. Then, in 1959, a French physician named Jerome Lejeune identified Down syndrome as a chromosome anomaly. It was Lejeune who observed 47 chromosomes in individuals with DS, rather than 46 chromosomes.

The cause of DS is not known, however, some experts believe that hormonal abnormalities, x-rays, viral infections, immunological problems, or genetic predisposition may be the cause of improper cell division, resulting in the syndrome. What is known, however, is that the extra chromosome 21 causes an extra dose of some proteins, which causes the typical features of the syndrome. In addition, it should be noted that DS is not the result of something that either parent did or did not do.

 

Features and Characteristics

There are many physical characteristics that are associated with DS. Not every individual has all the characteristics, however, the following is a list of the most common traits:

In addition to the common characteristics, a child with DS may also have the following medical issues:

 

Diagnosis

Generally, when a child is born with Down syndrome, the appearance of the child is the first indication that he or she may have the disorder. Therefore, a chromosome analysis is conducted which looks for three chromosome 21s or variants as described above. It can also be diagnosed prenatally by either an amniocentesis or chorionic villus sampling.

 

Treatment

There is no cure for DS, however, early intervention programs, preschools, and integrated education can be very beneficial for the child with DS. With the proper education, many children with DS will learn to read, write, and participate in school activities.

In addition to receiving an early education, children with DS may benefit from several therapies as well. Due to the delays in speech that are commonly seen in children with down syndrome, speech therapy is beneficial. The speech pathologist should emphasize adequate development of oral muscles used in feeding and speech articulation, and to focus on developing expressive and receptive skills to enhance communicative functioning. Due to the low tone found in children with DS, physical therapy may be useful in improving gross motor skills such as sitting and walking and improving postural alignment. Finally, children with DS may also benefit from occupational therapy to develop fine-motor skills, self help skills, upper extremity strength, and coordination.

 

What to Expect

Children with DS can usually do what "typical" children can do, such as walk, talk, play, dress themselves, potty train, etc., however, they generally do these things later than other children. Individuals with Down syndrome should be a part of the community; they strive to accomplish goals just like everyone else. They go to school, have jobs and enjoy leisure activities. Organizations, (i.e., banks, corporations, restaurants, entertainment firms, and computer organizations) actively seek young adults with DS for employment. People with DS bring to their jobs enthusiasm, reliability, and dedication.

Many adults with DS form relationships with others and some even marry. Women with Down syndrome are fertile and can have children; men are believed to be sterile. The life expectancy of an individual with Down syndrome is 55 years.

 

Personal Stories

Jacob is a 4 ½ year old happy, precious little boy! He did have some rough spots at the beginning of his life. He had major surgery at 5 days old to correct a stomach blockage (malrotation). At 6 months of age, he had infantile spasms and was on medication (ACTH) for 3 months. At 9 months of age, I put Jacob on "vitamin therapy" (MSB+ with piracetam). Needless to say, from that point on, Jacob has been a very healthy child! No more seizures, thank God!! Jacob still gets sick, but the instances are extremely rare and the worst that he has had in 4 years has been a sinus infection. Jacob currently attends Association for Children with Down Syndrome and will be attending kindergarten in September in our home school district. He is a joy and a source of inspiration to our whole family! God truly blessed me when He gave me Jacob!!!! - Carol Spiegel

My daughter, Melina, who is now 2 ½ years old, was born a month early, and we found out when she was nearly 3 weeks old that she did in fact, have Down syndrome. We found out about her congenital heart defects at the same time. It was quite a shock, but after her surgery at 4 months to close the 2 holes, she was great!

Melina has had the benefit of Targeted Nutritional Intervention since she was 7 weeks old! I know this has helped to keep her healthy and strong! She is a talented, beautiful girl who LOVES to play with her big brother! They are the best of friends! She enjoys dancing and going to the park! Her favorite television shows are Barney and Wheel of Fortune!

Melina is talking up a storm these days, and has quite a vocabulary. She is putting 2 words together, and loves to sing with me! She enjoys playing in front of her big mirror in her room, and this has helped to increase her language skills. She can now walk up and down the stairs holding onto the rail all by herself! She loves to mimic the ice skaters on TV by twirling around the room and lifting her leg up so gracefully! Our latest project is potty training, and it is actually going pretty well!

We enjoy participating in our local Down syndrome support and activity group, and Melina has made some wonderful friends (so has Mom). Melina is a wonderful child, with or without Down syndrome. I have learned so much from her, and her strength and determination is inspiring to me and she truly is my hero! She has taught me to appreciate every day and every moment of every day, which is the best gift I could ever imagine! - Kristie Lerma

When Carrie was born 22 years ago with Down syndrome, our family was definitely affected. There was no lack of love for her, just many anxious questions and concerns about how we could help her lead a healthy, happy life.

Early intervention began in our county when she was six weeks old! Carrie was born at a critical turning point when realistic and humane goals were being legislated in PL-147 in 1975. We were so fortunate that she would be eligible for an I.E.P. (Individualized Education Plan) which is the norm today but, of course, still has to be closely monitored by parents. The home based program was ideal for Carrie for her first three years since she was susceptible to bronchitis and pneumonia. Ear infections were frequent, resulting in a 60% hearing loss in her right ear today. Two serious incidents with scarlet fever occurred by the age of four. A hole between the ventricles of her heart healed itself before she was a year old but at two years of age, she had open-heart surgery to correct the patent ductus. A tear in the mitral valve necessitates antibiotics when she has dental work. She has been generally healthy until two years ago when a hyperthyroid (Grave's Disease) manifested itself in hand and body tremors, heart rushes, and heat intolerance. She is under the care of an endocrinologist and will have radioactive iodine treatment after college ends in May since the drug, PTU, has not triggered her thyroid to function normally.

Speaking of college, never did we even consider when she was born that Carrie would attend college! She is the youngest of our four children and has always aspired to their goals. Their role modeling and love for Carrie were vital parts of her stimulation and inspiration. Carrie attended a preschool I direct until she was six years old and was ready for kindergarten. She then was "mainstreamed" (not inclusion in those days) in kindergarten for two years, first grade, two years of second grade, with fourth grade being her first year of self-contained classes plus attending "regular" classes, when appropriate. She took Computer, Speech, five years of English, Home Economics, Keyboarding, Chorus, Gym and Art and was in the high school play productions for four years! The regular classes were adapted to her level and contributed to her general knowledge and self-confidence tremendously. I was the parent representative on the C.S.E. committee during her school years, which gave me insight into realistic expectations for Carrie's education. She graduated at age 21 and received at the graduation ceremony an award for the student who worked to the very best of her ability! Graduation was followed by a postgraduate year at B.O.C.E.S, completing her second year of Early Childhood which she had started as a senior in high school.

Carrie wants to be a teacher's assistant for special needs children. She is enrolled in a program for teacher's assistants at the local junior college three days a week. She is able to take 3 classes a semester with the help of her Home Waiver assistant who helps with studying and general adjustment. Carrie continues to make wonderful gains in confidence and knowledge. The other two days of the week she works as a teacher's helper at the preschool I direct. She has always been a very warm and outgoing person and thrives being in the social atmosphere of the college and the preschool. She also attends a youth leadership program (the Resource Center for Independent Living) where in the past five years, she has gained advocacy skills along with other friends who have disabilities. She loves to speak at schools and has also spoken at conventions in Albany, NY, New York City, and Phoenix, AZ, plus at the last two local Buddy walks in Utica, NY. She feels very strongly that she needs to spread the word about "Up" Syndrome, the name given by her friend, Ann Forts! She is scheduled to speak at a parent group in Boston this fall. I am the "senior" member of a parent's group in Utica, NY. I am excited to see young parents having the resources and support from early on!

Loving Carrie has always been easy because she is so lovable and thrives on hugs. When she was in third grade, she had to learn about "appropriate hugging," but has always been blessed with many friends who share those wonderful gestures of affection. Stimulation is critical for Carrie, not only because she learns at a slower pace, but because she may need an alternative route to reach her goal. She is very capable of achieving and succeeding when a task is approached in her learning style. For example, she may memorize terms, saying them out loud as she beats in rhythm on her drums. She came up with this memory strategy on her own! I find also that she thrives on a routine. For example, she is the only one of our children I never had to wake to get ready for the day. The alarm goes off, and she's up! She also likes to have her schedule lined up for the day and has even had to learn to be flexible about it!

We have found facilitation to be very necessary for Carrie's success. Carrie needs someone to show her the opportunities available to enhance her life and once introduced, she carries on, sometimes with help and other times with much independence.

In the following paragraphs, Carrie's accompanying article reflects her fun-loving spirit:

The Special "Tomato" of My Family

My dad and mom had four children. The first three children were healthy and regular people. Then I came along, a baby with a difference, Down syndrome. I had a hole in my heart, a rip in my heart valve, jaundice, a big tongue and a wobbly head. As I got older I also realized that I am a slow learner. One day it was bothering me that I was having a hard time doing my school-work. I told my dad about this problem and he shared a story about when he was out in his garden picking tomatoes the year I was born.

Every year my dad grows a garden and loves to plant tomatoes. At harvest time there were Beefsteak tomatoes on a bush. When he saw a differently shaped tomato it got his attention. It had a large, smooth, bright red enlarged side that made my dad want to pick up and study the bump because it was so unique and looked appetizing. At supper, that tomato was just as juicy as the others.

Even though I'm different, like the tomato, as a person with Down syndrome, my family and friends love me even more and want to help me when I need it. My dad tells me that even though I have more difficulty learning than my brother and sisters, my lovable and outgoing personality and strong character make me just as special as they are. I guess I am the special "tomato" on the Bergeron bush! - Peggy and Carrie Bergeron

My name is Tracy Powell and I am the mother of Erik Powell, who has Down syndrome. Erik is 20 months old and has already conquered open heart surgery, diaphragmatic hernia surgery and eye surgery. Although we have had some difficult times, it has still been a pleasure having a child with a disability. Erik is always a happy and loveable baby. He hardly ever cries. I couldn't ask for any better. We have spent the majority of Erik's life at doctor visits and meetings, but I wouldn't change a thing. I look at Erik as a special angel sent to me from God. - Tracy Powell

I have identical twin boys, Sam and Patrick. They are now two years old. They have beautiful blond hair, blue eyes and a smile that will knock your socks off! Oh yeah, they also have Down syndrome.

Life got off to a rocky start for the boys. They were born at 26.5 weeks gestation. Sam weighed 2 lbs 7 oz, Patrick 2 lbs 3 oz. The first few weeks of life were a definite struggle - one tiny step forward, and a landslide back. When they were just a couple days shy of 1 month old, the neonatologist ordered a chromosome analysis for Sam. He had some stuff going on that wasn't necessarily common in preemies. He claimed to be shocked that it came back with a diagnosis of trisomy 21. Not as shocked as we were! When Sam's results came back, they immediately ran a chromosome study for Patrick. I just looked into that isolette at that incredibly tiny face dwarfed by big blue eyes and knew. I didn't have to wait for the official results.

A lot of the complications we experienced were when they were in the NICU. Patrick had surgery to close his Patent Ductus Arteriosis (PDA) when he was 8 days old. Sam had the same condition, but also had a condition called "Coarctation of the Aorta," or a narrowing of the aorta when it jointed the heart. In his case, his PDA had to remain open to get adequate blood flow. We talked about keeping him healthy and getting to a weight of 5 lbs, then going to Children's hospital for surgery to correct the coarctation and PDA at the same time. When he was about 2 1/5 months old, a routine echocardiogram showed that the coarctation was opening up on its own. No surgery! Sam continued to get healthier, bigger and stronger. Patrick was another story. About this same time, we had started to attempt bottle feeding. Certainly a challenge given their low muscle tone. Patrick kept getting what we thought were stomach viruses. He would eat really well, then get sick. Finally, after what seemed like a bunch of tests, a lower GI showed Patrick had a condition called malrotation of the intestines.

His digestive system didn't implant itself correctly when he was a fetus and his intestines were twisting and free floating. Surgery corrected this. Soon both boys were able to come home. We were ecstatic. Shortly after homecoming, a routine follow up to the cardiologist showed his PDA had not closed completely. Sam had his closed by a procedure called PDA coil embolization. This was done via a cardiac catheter. He only had to spend one night in the hospital for observation, and that was only because he was less than a year old.

Shortly after receiving their diagnosis of Down syndrome, I contacted a local support group here in Dallas - the Down Syndrome Guild. They periodically hold "New Parent Coffees" and people come with their kids of all ages. I was greatly encouraged by these meetings and seeing the activity of all the children. It really gave me a lot of hope for my boys’ future.

The boys have been receiving early childhood intervention since they came home from the hospital. They had worked extensively with an occupational therapist and we have just recently switched to a physical therapist and added speech therapy as well. They aren't walking yet, but I see progress every day.

Each day they stand a little longer, they take a few more steps toward me and I can see how proud they are of their accomplishments. In the beginning, I did all the things you are supposed to do to stimulate them. I was never really sure it was sinking in, but I kept after it, over and over and over again. Many times, I was ready to give it up as a lost cause when lo and behold, they'd get it! Small things like clapping hands to patty cake, hand motions to itsy-bitsy spider, or stacking one block on top of another. All were (and still are) celebrated with great gusto by all of us! They have made tremendous strides in their cognitive abilities. We are starting to do puzzles, learning to eat with a spoon and shape sorting. They are catching on much quicker to so many things. I'm even starting to hear words consistently from Patrick and more frequently from Sam. Of course, they are words only a mom can understand, but hey, that counts too!

They are the loves of my and my husband’s lives, not to mention all of their grandparents, aunts, uncles, cousins, and numerous friends. We have wonderful loving family and friends who have and continue to support us. That helps tremendously. I really have an extremely optimistic outlook for their future.

They are very sweet and loving, but at the same time, even at 2 years old, I see determination and drive that will help them to overcome whatever life throws at them. Some people might only see tragedy in having two children with Down Syndrome. I don't. I consider myself blessed and the luckiest mom in the world! - Judi Grossman

David is 8 years old. We discovered at birth that he has Down syndrome. When he was 2 weeks old, we had genetic testing to confirm. Unknown to us at the time, the Navy doctor had also ordered an echocardiogram to check for heart defects. David had no murmur at birth, but they wanted to check anyway. David had a very large ventricular septum defect, so large that he had no murmur. We were told that he could die in 2 days, 2 months or 2 years. He has had 3 heart surgeries, two of which were open heart. The hole was finally repaired when he was 4 years old, but the valve was damaged in the process. He will require another surgery sometime in the next 2 years to replace his valve.

Last year we had a scare with leukemia, which is more common in children with Down syndrome. His blood cells were enlarged and there were too many "new" ones. It was explained by the fact that some Down syndrome children have larger cells as they get older, and the turbulence around his leaking valve was destroying cells, causing new ones to be formed.

David has the further diagnoses of Attention Deficit Hyperactivity Disorder, Oppositional Defiant Disorder and autism. Autism is found in somewhere near 7-10% of children with Down syndrome. David's physical characteristics are mild. He has the almond shaped eyes, although they are only really noticeable when he is tired. He has the simian line in his palm, with the crooked little finger. He was born with the fat pad on the back of the neck, but lost it when he began lifting his head. David also is double jointed in the hips. I was told constantly that he had low muscle tone. This came from people who never had to take something away from David that he shouldn't have but desperately wanted. He is extremely strong in the upper body for his size. Luckily most of the time he is good-natured.

I currently homeschool David. He has been tested at an IQ of 68-70, which is in the mildly retarded range. Although he should be in 3rd grade (by age,) he is in 1st grade curriculum. Due to the added diagnosis of autism, his social skills are pre-school level. He was delayed in all milestones - sitting at 11 months and walking at 23 months. He is speech delayed and has just begun talking in 4-5 word sentences this past year.

When the ODD is under control through medications, David is a very loving child. He is excited about the upcoming birth of his new brother/sister, and often kisses my belly as a way of kissing the new baby.

I never questioned, "Why me, Lord?" When David was born, I did mourn the child I was expecting, but went on to love the child I was given. As a Christian, I firmly believe that God does not give us more than he equips us to handle. I felt complimented by God that he had the faith in me and my ability to raise this very special child. Through Him, all things are possible. It's not always easy, especially with the multiple diagnoses, but it is a pleasure to see each and every milestone. - Loriann Smith

We are a family of 5. My husband, Nabil, and I have been married for 15 years. We are both pharmacists and met in college. We have 3 children - Basel who is 13, Alexandra who is 11, and Natalie who is 19 months old. Natalie is our "surprise!" baby, but I don't think that a birth was ever more anticipated than hers!! My pregnancy seemed to drag for all of us, but on September 1, 1997 (Labor Day - no pun intended. It was actually Labor Day!) our baby Natalie joined the rest of her crazy family! She was born at 10:27 p.m. after 6 hours of labor and she was beautiful!! But, there was a lot of whispering in the corner by the nursing staff. Unfortunately, my regular OB-GYN didn't deliver her and I did not care for the silent partner. But we had our baby girl and that was all that mattered!

The next morning, Natalie was brought to me to nurse and I remember being so happy. I couldn't wait for my husband to bring Basel and Alex to see their new sister. But what happened next soon bursted my bubble. The hospital's pediatrician came in to see me and announced that Natalie had a "heart murmur" and hedged that she thought she showed characteristics of a baby with Down syndrome. To make a long story short, I agonized over how to tell my husband and what to expect for this wonderful baby in my arms. By the end of the week we had confirmation that Natalie had DS, and so began our adventure to educate ourselves.

First and foremost, we had to take care of her heart murmur, which turned out to be an ASD and a VSD. Thank God for sending us a wonderful cardiologist who helped us through a very rough time. Natalie's heart problems worsened quickly, although she nursed very well, she was not gaining weight and slept most of the time. These were signs of her worsening. At 6 weeks of age, she was hospitalized for her first bout of CHF and 2 weeks after that, we were at Children's Hospital to let a group of strangers take care of our baby. It was an emotionally draining experience for us all. It was difficult to deal with all of Natalie's problems as well as to try to keep everything relatively "normal" for the other two kids. It was a horrible time. But we put our faith in God and in the doctor's skills. On November 19th, our baby's heart was fixed and 5 days later we were on our way home!! We had a Thanksgiving to beat all others that year! Natalie has been doing well from a cardiac standpoint.

As soon as she healed, she began becoming more and more active both physically and cognitively. By 7 months of age, she was sitting up and was crawling at 12 months! We are working on her standing and walking skills. Natalie is beginning swimming lessons this week; she loves the pool and I think that she is a natural! She has been involved in early intervention from the beginning and is doing well across the board. I wish her speech (expressive) was a bit stronger, but she is doing well! I know that she is a very strong-willed and determined child. She has us all behind her and we root and cheer and holler for her whenever the opportunity arises (about 500 times a day!!). She loves her big brother and sister and of course the kitty and dogs too! She loves to go to the window to wave to the puppy or the kids. She also loves her swing!!

Although Natalie was a surprise and her DS was a big shock, we have been blessed with an angel from heaven. She has taught me that the things that we stress about really aren't that important and that the important stuff is the love in your heart, that is unconditional love!! - Tracey Khalife

 

Resources

If you are interested in meeting other parents and individuals who are involved in raising a child with Down syndrome, the following listservs are available:

Down Syndrome List - Send an e-mail to listserv@listserv.nodak.edu, leave the subject field blank, and in the body of the e-mail type the words "subscribe down-syn" (without the quotes), followed by your first and last name. You will then receive a confirmation.

Upsndowns List - Send an e-mail to Upsndowns-request@mailing-list.net, leave the subject field blank, and in the body of the e-mail type the words "sub upsndowns" (without the quotes).

For more information on Down syndrome, visit these helpful sites:

 

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