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Buffalo Strong: What is Down Syndrome?

"The earlier that you get into that program, the better the outcome from a developmental standpoint."
GiGi's Playhouse.jpg
Posted at 9:05 PM, Mar 03, 2022
and last updated 2022-03-03 21:13:58-05

BUFFALO, N.Y. (WKBW) — It is the most prevalent genetic disease, or birth defect, worldwide.

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 is Down Syndrome? How is it diagnosed?

Down Syndrome is the common genetic cause of intellectual disabilities appearing in about 1 in 700 newborns.

According to Your Genome, this is a photo of someone with trisomy 21.

"Down syndrome is a condition in which a child is born with an extra chromosome. Most babies are born when 46 chromosomes. Children with Down syndrome will have an extra chromosome number 21," Oishie Children's Hospital's Robert Warner Rehabilitation Center, Dr. Ted Andrews said.

These small packages of genes determine how your body functions and forms. About 1 in 6,000 births in 2021 were born with Down Syndrome, according to the Centers for Disease Control and Prevention.

Dr. Ted Andrews speaking with Pheben Kassahun via Zoom about how Down Syndrome is diagnosed.

RELATED: WATCH: 'Buffalo Strong Conversation: See Me,' a discussion on supporting the Down syndrome community

GiGi's Playhouse executive director, Emily Mondschein said, "There are physical features such as a crease in the palm, or a gap between the first and second toe. There are lower set eyes, lower set ears. More of a slant to the eyes."

Oishei's Children's Hospital

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

"Early on in the 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 about 16-18 weeks and that could be an early sign of Down syndrome. Ultra sound is also used, antenatal meaning during the active pregnancy and then for confirmation we can do actual testing for the genes themselves through a thing called amniocentesis or chorionic villus biopsy which is basically the insertion of a needle into the womb and some of the blood is drawn out the fluid through the analysis of the genes," Dr. Andrews said.

Ninety percent of the children that Dr. Ted Andrews sees at Oishie's Robert Warner Rehabilitation Center have trisomy 21.

It is when an egg or sperm cell may keep both copies of chromosome number 21, instead of just 1 copy. This is not inherited.

Another condition, called translocation, occurs in about 4% of babies. It is rare but can be passed down from genes.

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

Specialists do an early intervention from pregnancy.

"The earlier that you get into that program, the better the outcome from a developmental standpoint. That includes things like occupational, physical, speech therapy, as well as special instructions for teachers. That can begin, easily, for some of those therapies at six months. Certainly, by age two, the child should be engaged by all of those. Early on, that can be done in the home. The therapist can come into the home," Dr. Andrews said.

Another resource is a nonprofit organization called "GiGi's Playhouse", located on Kenmore Avenue, in Buffalo.

GiGi's Playhouse

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

Mondshein said, "We have estimated that there are roughly 1100 people living with Down syndrome in the WNY area. So we have neared targeting half of this population in the short time we've been open."

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

Emily Mondschein said roughly 500 families have been served since the Buffalo location opened, in August 2020.

Mondschein said, "When I had my son, I had a prenatal diagnosis. Fourteen weeks into my pregnancy. And it was rough. It was really discriminatory, it was a dark, dark time. And I'm super grateful for it. Because I never would have done any of this if I hadn't seen how rough the world can be, and how far we have to go and how much more we need to learn."

The Playhouse hopes to ensure a lasting acceptance in the world by helping clients achieving everyday tasks and goals, because they are truly capable.

Mondschein said, "People with Down syndrome developmentally tend to go slower than their typically developing peers. They do meet milestones at the same rate, just slower. So it's more of a waiting game a lot of the time. But boy the celebrations are big when they do meet those milestones."