Buffalo Strong: What is Down Syndrome?

BUFFALO, NY (WKBW) – It is the most common genetic disease or birth defect in the world.

The disease was named Down syndrome in honor of John Langdon Down: the doctor who first recognized the syndrome in 1866, but until the middle of the 20th century.

what Down syndrome? How is it diagnosed?

Down syndrome is the common genetic cause of intellectual disabilities affecting approximately 1 in 700 newborn babies.

According to Your Genome, this is a photo of a person with Down syndrome.

“Down syndrome is a condition in which a child is born with an extra chromosome. Most babies are born with 46 chromosomes. Children with Down syndrome will have an extra chromosome. chromosome number 21,” Oishie Children’s Hospital Robert Warner Rehabilitation Centersaid Dr. Ted Andrews.

These little bundles of genes determine how your body works and is shaped. About 1 in 6,000 births in 2021 are born with Down syndrome, according to the Centers for Disaster Control and Prevention.

Dr. Ted Andrews chats with Pheben Kassahun via Zoom about the diagnosis of Down syndrome.

RELATED: WATCH: ‘Buffalo Strong Conversation: See Me,’ A Discussion About Supporting The Down Syndrome Community

GiGi’s Playhouse Executive Director Emily Mondschein said: “There are physical characteristics like a crease in the palm or a space between the first and second toe. There are lower eyes, higher ears. bass. No more tilt to eyes.”

Oishei Children's Hospital

There are different methods used for diagnosis before the baby is born.

“Early in pregnancy, there’s a thing called the ‘quad screen‘, which is basically a blood test that looks at four different levels of blood in the mother, at around 16-18 weeks and could be an early sign of Down syndrome. Ultra sound is also used, prenatal which means during active pregnancy and then for confirmation we can do actual tests for the genes themselves through a thing called amniocentesis Where chorionic villus biopsy which is basically inserting a needle into the uterus and some of the blood is pulled out of the fluid through gene analysis,” Dr Andrews said.

Ninety percent of the children Dr. Ted Andrews sees at the Robert Warner Rehabilitation Center in Oishie have Trisomy 21.

This is when an egg or sperm can retain both copies of chromosome number 21, instead of just one copy. It’s not inherited.

Another condition, called translocation, occurs in about 4% of babies. It’s rare but can be transmitted by genes.

The third condition is mosaicism This is where there is an extra chromosome in some cells. This is do not inherited.

Specialists make early intervention from pregnancy.

“The earlier you enter this program, the better the results from a developmental perspective. This includes things like occupational therapy, physical therapy, speech therapy, as well as special instruction for teachers. It can start, easily , for some of these therapies at six months. Certainly, at the age of two, the child should be engaged by all of these. At first, it can be done at home. The therapist can come to the house “, said Dr. Andrews.

Another resource is a non-profit organization called “GiGi’s playhouse“, located on Kenmore Avenue, in Buffalo.

GiGi's playhouse

The organization helps families make the most of their opportunities through free programs.

Mondshein said, “We estimated that there are approximately 1,100 people living with Down syndrome in the WNY area, so we almost targeted half of that population in the short time we were open.”

The playhouse is a safe space for people with Down syndrome.

Emily Mondschein said about 500 families have been served since the Buffalo site opened in August 2020.

Mondschein said: “When I had my son, I had a prenatal diagnosis. Fourteen weeks into my pregnancy. And it was tough. It was really discriminatory, it was a dark, dark time. . And I’m so grateful for that. Because I never would have done any of this if I hadn’t seen how difficult the world can be, and how far we have to go and how much we still need to learn.”

The Playhouse hopes to ensure lasting acceptance in the world by helping customers achieve daily tasks and goals because they are truly capable.

Mondschein said: “People with Down syndrome tend to develop more slowly than their typically developing peers. They go through the stages at the same rate, just slower. So it’s more of a waiting game. most of the time. But the celebrations are big when they hit those milestones.”

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