NEW & EXPECTANT PARENTS

Flower City Down Syndrome Network has been supporting families of children with Down syndrome since 1991 and are here to help new parents begin to understand Down syndrome and learn all about their baby’s amazing potential.

The feelings that parents feel during this prenatal diagnosis is, without a doubt, intense and filled with emotion. These emotions are appropriate and very normal when you learn the diagnosis of your soon-to-be newborn.

Although the needs of your baby may seem overwhelming to you right now, let us reassure you that your baby is more like than unlike other babies and you can count on us because we are here to help.

Flower City Down Syndrome Network is here to offer information and support that will assist you during these early days.

WELCOME BASKETS

Are you a new or expectant parent of a child with Down syndrome? If so, congratulations! FCDSN would love to connect with you, to welcome you, to share what resources and support we offer, and to connect you to other families. We look forward to hearing from you.

DEAR FUTURE MOM

A mother’s question, “What kind of life will my child have?” provokes some responses.

Discovering that your unborn child has Down syndrome can be a scary prospect for parents. For World Down Syndrome Day on March 21, CoorDown (Italy’s national association for people with Down syndrome), is trying to demystify some of the unknowns about raising a Down’s child.

A heartwarming message from 15 people with Down syndrome to a future mom.

A LETTER FROM AN FCDSN MOTHER

Congratulations! You’re going to have a baby! Like me, you had some genetic testing done. I was in my early forties and knew I was at risk for having a child with Down syndrome. If our baby had Down syndrome, we wanted to be prepared.

We already had three children (13, 11 and 6 years of age). It was an “unexpected” pregnancy, but we were all thrilled. The results of my amniocentesis came back. Our baby had Down syndrome. We were devastated. Yes, we knew I was “at-risk,” but we never expected a positive result. The chances were so slim! How could it happen to us?

We experienced many stages of grief: tears, anger, fear, depression, anxiety, and agony. We thought our lives would never be normal again. I couldn’t stop the tears from flowing! I couldn’t talk about it! I couldn’t sleep! I overate! I dreaded the birth and, even more so, the future.

But, when the tears and the fear finally began to subside, we remembered the reason for the amniocentesis – preparation.  With the help of professionals (which might include: an obstetrician, developmental pediatrician, genetic counselor, pastor or priest, etc.) and many organizations and support groups, including the Flower City Down Syndrome Network, we gathered much information. We became knowledgeable in medical considerations and treatment, developmental delays and interventions, therapeutic and community programs. With family, friends, and faith, we gathered the strength and courage needed to accept and provide for our child with special needs.

As our baby grew and developed in utero, and as we explored the literature and started planning for the future, our feelings of fear and disappointment began to change. Hope and possibilities began to emerge. Certainly, love was always there, but it began to grow and blossom and become contagious.

We wondered what “Sarah” would look like. Would she look like the other kids? What kind of personality would she have? Would she have medical problems? What kind of delays could we expect? Would we be able to deal with her “special needs”? Would she have friends and be accepted into the community?

Many of the answers became obvious. As she has many of the same genes as the rest of the family, of course, she would resemble us. The other kids had great personalities; why shouldn’t she? Many of the possible medical complications could be treated or resolved. With the correct groundwork, guidance and intervention, special needs could be addressed and delays minimized. With our commitment and love, she would be encouraged to reach her full potential. With family, friends and neighbors’ assistance, she would be accepted and integrated into the community.

On September 24, 2005, three weeks early and amid joy, anticipation and some fear, Sarah arrived. She looked perfect and beautiful to Mom and Dad.  We welcomed her into our hearts and home and as with any child, we knew the rewards would be great.

Sarah is a treasure beyond measure. She has filled our lives with wonder and delight, achievement and unconditional love. She is more like a typical child than unlike one. The road will be rough at times. There will be delays and disappointments along the way, there are going to be obstacles and hurdles to overcome, not just with Sarah, but with all our children.

I wish you the best of luck and may you truly enjoy, cherish and love this new addition to your family.

—A letter from a mother of Flower City Down Syndrome Network

PRENATAL TESTS & DIAGNOSIS

There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests.

A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby.

Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby; no one can predict this.

Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Extra fluid in this region could indicate a genetic problem. These screening tests can help determine the baby’s risk of Down syndrome. Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. Sometimes, the test results are normal and yet they miss a problem that does exist.

Diagnostic tests are usually performed after a positive screening test in order to confirm a Down syndrome diagnosis. Types of diagnostic tests include:

  • Chorionic villus sampling (CVS)—examines material from the placenta

  • Amniocentesis—examines the amniotic fluid (the fluid from the sac surrounding the baby)

  • Percutaneous umbilical blood sampling (PUBS)—examines blood from the umbilical cord

These tests look for changes in the chromosomes that would indicate a Down syndrome diagnosis

TYPES OF DOWN SYNDROME

There are three types of Down syndrome. People often can’t tell the difference between each type without looking at the chromosomes because the physical features and behaviors are similar.

Trisomy 21

About 95% of people with Down syndrome have Trisomy 21.With this type of Down syndrome, each cell in the body has 3 separate copies of chromosome 21 instead of the usual 2 copies.

Translocation Down syndrome

This type accounts for a small percentage of people with Down syndrome (about 3%). This occurs when an extra part or a whole extra chromosome 21 is present, but it is attached or “trans-located” to a different chromosome rather than being a separate chromosome 21.

Mosaic Down syndrome

This type affects about 2% of the people with Down syndrome. Mosaic means mixture or combination. For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes.

CAUSES AND RISK FACTORS

The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome. Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role.

One factor that increases the risk for having a baby with Down syndrome is the mother’s age. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women.

POTENTIAL HEALTH ISSUES

Many people with Down syndrome have common facial features and no other major birth defects. However, some people with Down syndrome might have one or more major birth defects or other medical problems. Some of the more common health problems among children with Down syndrome are listed below.

Hearing loss

Obstructive sleep apnea, which is a condition where the person’s breathing temporarily stops while asleep

Ear infections

Eye diseases

Heart defects present at birth

Health care providers routinely monitor children with Down syndrome for these conditions.

TREATMENTS

Down syndrome is a lifelong condition. Services early in life will often help babies and children with Down syndrome to improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

For additional information, please review our Resources section of the website.