Melissa Burgos says that when she and her husband Anthony learned that she was carrying a child with Down syndrome, “it was a tough time, it was an emotional time, it was a time of adjustment.”
Many people asked them what they were going to do with the information — such as, would they consider terminating the pregnancy? — but Burgos says, “We knew it wasn’t going to change our decision about anything. We loved our son well before he was born.”
Burgos is now in her second year as president of the Down Syndrome Association of Central New Jersey, whose mission is “provide support to families from the time they receive the diagnosis and throughout their lifetimes.” She is guiding the organization to respond to what she calls a “huge gap in psychological support for individuals receiving the diagnosis.” On March 18, DSACNJ celebrated World Down Syndrome Day at the Cranbury Inn with its annual Rock Your Socks Off event.
Money raised at the event is to go towards DSACNJ’s efforts to support and educate friends, families, and professionals in our communities, spread awareness of how those with Trisomy 21, or Down syndrome, are similar to their peers and expand the opportunities for social inclusion by sponsoring events.
One in 6,000 babies in the United States is born with Down syndrome, with a total of a little over 250,000 living in this country. Down syndrome, a result of an abnormality in a person’s DNA, means an increased incidence and likelihood of medical conditions like heart defects, digestive issues, autoimmune conditions, and hearing and vision loss. But advances in medicine mean that the life expectancy for Down syndrome children today has climbed to the 60’s from the 20’s as recently as the 1980’s.
This change is largely a result of medical advances that affect the children early in life, like improved open-heart surgery for babies. Lee Burgos, now 2, has a small heart defect that does not require surgical intervention and seems to be closing up on its own, and he has some hearing loss, which has required ear tubes.
When they got the news about Lee, Melissa and Anthony had no desire to terminate the pregnancy, but they did wonder how he would affect their family — particularly their daughters Clara, now 8, and Juliette, almost 6. And of course, they love their brother very much. But having a sibling with Down syndrome does offer kids life lessons. One lesson the girls have learned is patience. Burgos tells them, “Just because it is hard to understand Lee, don’t walk away and not let him express himself. Try to understand him.”
Burgos, a Hopewell Township resident and family physician with Hunterdon Family Medicine at Phillips-Barber in Lambertville, found it strange that so many people asked what she planned to do after learning about Lee’s Down syndrome. Numerous medical professionals implored her to have an amniocentesis done to confirm what other tests had shown.
Amniocentesis is a procedure that can be done in the second trimester in which the amniotic fluid that surrounds a fetus in the uterus is extracted. Amniotic fluid contains fetal cells which can be analyzed to confirm that there are chromosomal abnormalities, such as those that are the cause of Down syndrome.
Amniocentesis is usually done around weeks 16 to 18 of a pregnancy. Because it involves a needle, it does carry some risks to the fetus, including the risk of miscarriage.
Burgos was particularly disturbed by the responses of the medical community. “I was asked numerous times whether I was certain I did not want an amnio because I was running out of time to make a decision, and I had told them over and over that there was no decision,” she says.
Burgos says that many physicians do not follow appropriate guidelines for delivering a Down syndrome diagnosis. Burgos says it is important that prospective parents are referred to support groups at the time of diagnosis, so they can better understand what it means to have a child with Down syndrome before making any decisions. People should not decide to terminate, she says, because of fear or lack of knowledge.
‘The idea behind that was to celebrate diversity—how it can be a really beautiful thing.’
DSACNJ started a “first call” program to increase awareness among New Jersey obstetricians of its existence as a support organization for parents. Through the program, obstetricians invite parents, who at the time of diagnosis are often overwhelmed and emotional, to sign a release form to share with DSACNJ the parents name and contact information.
“This takes the barrier away and allows us to reach out to them,” Burgos says, “and it allows doctors to feel they’ve offered their patients something.”
When new parents call DSACNJ, they are never asked about what decision they will make about the pregnancy. “We do not make judgments; we are just there to answer questions,” Burgos says. She adds that the parents are also invited to meet a family that has a Down syndrome child.
Getting a Down syndrome child involved very early in the state’s early intervention program is critical, Burgos says. Through it, a physical, occupational, or speech therapist assesses and evaluates the child’s gross and fine motor skills, speech, and the social and intellectual aspects of their interactions, and recommends services for the child, whose frequency depends on how the child is progressing. “The goal of early intervention is to teach the family how to support the child,” she says. “The services have to involve the whole family.”
Children with Down syndrome are typically behind in a number of developmental milestones, but early interventions, Burgos says, can help them reach their full potential and at a faster pace. The ability to crawl and to walk are linked to a child’s ability to explore the world and learn from it.
Burgos feels fortunate because Lee has done very well in evaluations, coming in within the lower range of typical development. To make sure Lee stays on that positive trajectory, she has supplemented the speech, occupational and speech therapy provided by the state so that he does each therapy once a week.
Looking to some of the unique challenges of a Down syndrome child, Burgos says, “Some of the things you take for granted in children that don’t have a disability, when they walk, when they crawl, typically takes double the amount of time to develop those skills.”
But most important for Burgos are all the positives. “As far as the joys of raising a child, he brings every joy. He is very loving, very social, very warm. He loves to read, loves music, loves to do gymnastics, loves to keep up with everything his sisters are doing. He is a very happy little boy. He loves to play with his toys and organize his toys. He is very much like any other child.”
Lee communicates really well, Burgos says. His speaking vocabulary is over 100 words, and although he doesn’t do as well at stringing words together, he gets his meaning across, even with one-word sentences. Lee also picked up sign language quickly, which his parents introduced to him before he could speak. “Children and adults with Down syndrome are visual learners. You need different educational techniques to teach them,” Burgos says.
This boils down to an important message that DSACNJ can share with families about their Down syndrome children: “They are more like everyone else than different.”
People feel uncomfortable around people with Down syndrome—“It is human nature to feel less comfortable with difference,” Burgos says—which results in misconceptions about the abilities of children with Down syndrome. In fact, she says, secondary schools and colleges have programs for Down syndrome teens and adults. “They have many capabilities which are unrecognized; for many with Down syndrome, socializing and recognizing people’s emotions and being in tune with people’s emotions are often a real strength,” she says.
Although the DSACNJ, which has been around since 1998 but has grown a lot during the last couple of years, has an office in Ewing, Burgos says it is “run by a bunch of volunteer mothers.” It has more than 300 member families, the majority from Central Jersey and Bucks County.
DSACNJ representatives have gone to a number of medical conventions to distribute information about its first call program to physicians, and Burgos has gone to hospitals to talk to them about guidelines for informing families of the diagnosis. The organization has also distributed brochures to local pediatricians, obstetricians and early intervention services. She is glad that more families are getting information,but wishes more would get it at the time of diagnosis.”
DSACNJ does educational advocacy for families to help them navigate the school system and get the best services through the early intervention process. It also provides enrichment, including art, yoga, sports, dancing, cooking activities, and weekly gymnastics at Motion Gymnastics in Pennington.
“There are also more social events to get families together to talk and communicate because they are really each other’s greatest resources; unless you have been there yourself, you don’t know how to navigate the system,” Burgos says. Families help each other to negotiate individualized education programs, child study teams, and career and job training.
“There is no one else to help us develop skills to help our loved ones. Most doctors are unaware of what kinds of services are out there to help with your child,” she says.
Burgos grew up mostly in New Jersey. Her mother was a kindergarten teacher and her father a chemical engineer for Merck. She went to medical school at Robert Wood Johnson.
The theme for World Down Syndrome Day this year was “Lots of Socks,” with the idea of wearing crazy or mismatched socks, or even multiple pairs. “The idea behind that was to celebrate diversity—how it can be a really beautiful thing,” Burgos says.
The mirror image of celebrating diversity—discomfort with difference—is what worries Burgos most as she looks toward Lee’s future. “My greatest worries are for him not to suffer the consequences of being excluded and people being insensitive and not understanding him or being open to giving him a chance, to be his friend and include him,” she says.