By, Pam Teel
March 21st is World Down syndrome Day, (WDSD), which is a global awareness day officially observed by the United Nations since 2012. The date for WDSD – the 21st day of the 3rd month, was selected to signify the uniqueness of the triplication (trisomy) of the 21st chromosome, which causes Down syndrome.
Down syndrome (or Trisomy 21) is a condition in which a person has an extra chromosome. Chromosomes are “packages” of genes in the body. They determine how a baby’s body forms and functions as it grows. Around 1 in every 800 babies will be born with Down syndrome. Down syndrome occurs naturally: there is no known cause. It usually causes varying degrees of intellectual and physical disability and associated medical issues. Most of us have 23 pairs of 2 chromosomes for a total of 46. Those with Down syndrome have an extra copy of the 21st chromosome. (Thus, the name Trisomy 21) Down syndrome affects every gender, race, nationality, and socioeconomic status. There are approximately 6000 babies born every year with Down syndrome.
Services to help people with Down syndrome have changed dramatically in the past half century. In the 1960s, when a baby was born with Down syndrome, one of the only options was to institutionalize a child. Luckily around the early 1970s, things changed for the better. More emphasis went into programs that focused on education and treating other related health issues. There’s no way to cure Down syndrome because it’s a genetic condition, but there are many ways to help people living with the condition manage their disabilities and lead happy and productive lives.
It’s not as much about treating Down syndrome, but more about finding therapies and services that make a positive impact. It really comes down to the individual, and treatments should be based on what each person needs. For children with Down syndrome, early intervention should start as soon as possible. Under federal law, states must offer free, appropriate public education for all children with (Ds) as part of the Individuals With Disabilities Education Act, for all children with Down syndrome. The law includes coverage of Early Intervention services designed to help address the developmental delays children with Down syndrome face. Such services are available and should be started any time after birth until the child turns 3, or until the child is eligible to enter kindergarten. If you are looking for information on this, check out the National Early Childhood Technical Assistance Center’s helpful list of resources for families. These programs provide children with Down syndrome the various types of therapies they need and that have been proven beneficial, including occupational therapy, physical therapy, and speech therapy. Early intervention will definitely dictate the trajectory for your child.
Becca and Andrew Rollo, from Millstone Township, received a diagnosis quite early that their fourth child had Down syndrome. It gave them plenty of time to experience a wide range of feelings on waiting for her delivery. They wondered if they would ever have a chance to go on vacations or take day trips with a child with Down syndrome, or even function as a typical family. Sadie was born May 26, 2020 at CentraState Hospital during the pandemic. Having a baby with a disability during a pandemic actually had a lot of silver linings for the couple because it gave them so much family time doting on the new baby, and a chance to get to know Sadie in a judgment free zone before stepping out into the great, wide world as her advocates.
The Rollo’s felt blessed to have found invaluable resources that helped take that fear out of them. One such resource, DSDN (Down syndrome Diagnosis Network), runs support groups for parents through Facebook. “There is a private pregnancy support group, and once your baby is born, they group you into a birth group with other babies born the same calendar year as your baby. Sadie has quite the epic crew of “homies with extra chromies” and we have found an amazing community in the “Lucky Few.” They often say it’s the best club you never would have thought to join. There is a shared experience instantly that bonds families in the Ds community that feels very special. We would be lost without our local group, Network 21 serving Monmouth & Ocean counties. Having others who have gone before and paved the way gives a family new to the journey so much hope and reassurance. While on this journey, I was inspired with some other “lucky mamas” to collect funds to send some “sunshine” to other disability families in an hour of need. We have formally become a 501(c)3, 321 Sunshine. You can find out more at 321Sunshine.org.,” stated Sadie’s mother Becca. There is even a platform on Instagram, started by one of Becca’s friends called: @happinessisdownsyndrome, which has advocacy videos for moms with new diagnosis.
“Sadie’s smile lights up a room and she loves to say hi to anyone and everyone. She is known to request hugs and go into the arms of complete strangers and charms them in an instant. No, she’s not always happy- she feels all the feelings the same way the rest of us do, but it does feel like that extra chromosome gave her an extra dose of love to share with the world,” Becca noted.
Sign language has been very helpful for Sadie to bridge the gap in communication. People with Down syndrome tend to be visual learners, so she picks up on signs quickly. It also alleviates some difficulty caused by having low muscle tone, which extends to the tongue, which has 8 muscles. As Sadie adds spoken words to her vocabulary, the ASL signs helps to understand her speech by differentiating between words she may say similarly. She has a Signing Time subscription and according to Becca, the videos by Rachel Coleman have taught her so much at such a young age.
fine motor and feeding/drinking skills, physical therapist to work on gross motor, and a developmental interventionist for everything in between. It takes her a little longer than typical kids, but so far, she can do lots of the same things as other kids her age, like walking, talking, & climbing, to name a few. It also helps to have older siblings to learn from. Ariella, (4th grade) Drew, (2nd grade) and Elise, (pre-k) were her first playmates and models for everything, and have been Sadie’s biggest cheerleaders, and will, not doubt, grow up to be her greatest advocates.
Her EI therapy sessions are all in home but they have supplemented with outpatient therapy at CHOP, and are lucky to have CHOP so close by in Plainsboro, as there are many medical conditions that can stem from having Trisomy 21. Sadie has been very healthy overall, but they monitor many different body systems, with a variety of specialists to keep on top of it.
Congenital heart defects affect about 50% of children with Down syndrome. Other common medical conditions can be vision problems, low muscle tone, blood disorders, hypothyroidism, and are at greater risk for Celiac & Alzheimer’s. It is important to note, although people with Down syndrome may have some medical conditions, they don’t ever have all of them, so with the proper medical team, all can achieve a high quality of life. Students with Down syndrome are considered to have an intellectual and developmental disability and are entitled to a free, appropriate public education through age 21. Research has shown that children allowed to continue being included in the general education classroom make significantly more gains. Many colleges and universities now offer specific programming dedicated to serving neurodivergent students.
Sadie is on track to enter the inclusive preschool at the Primary School following her 3rd birthday. This is the same program each of her older siblings has attended as general education students. Last year for WDSD, Becca visited both the Primary and Elementary Schools to share about Sadie and Down syndrome with the students. They have received so much support within the community from the early days of their diagnosis through the present, as they send Sadie off to school with her peers. They have learned so much along this journey and can’t wait to see what this sweet girl can do!
In 2018, Raisa Bakshiyev, of Millstone Township, was pregnant with twins. The pregnancy was progressing normally. She and her husband Andre picked out names and were both scared and very excited about the coming birth.
The girls were born by C- section on Monday, November 19th, at 12am in the morning. Mila was baby A, weighing in at 5 lbs., and Sonya was baby B, weighing in at 6 lbs. 1oz. At 6am the pediatrician came in and told the couple that the nurses were concerned that Mila had Down Syndrome, but that he didn’t see any signs of it.” He told them that just in case, he would run a karyotype, which is a test for the number and visual appearance of the chromosomes in the cell nuclei of an organism or species.
The girls did not need NICU stays, and other than Mila needing some help feeding from a bottle, as she would not latch to the breast, the girls were perfectly healthy. They were discharged on Wednesday. In Raisa’s eyes, Mila was completely healthy, she just had a little bit of a harder time with the breast feeding.
The following Saturday, they got the phone call from the pediatrician, that all the cells sampled showed trisomy21. Raisa’s world flipped upside down. She cried a lot, feeling like she lost a child and that the diagnose would change their lives forever. She still managed to breastfeed Sonya and pump for Mila, every 4 hours around the clock. Her husband stayed up at night with them so she could sleep a little more and produce milk. Of course, then came fears of secondary organ complications, but there were thankfully none and she did not need any surgery.
As time went on, Raisa cried less and less. “Knowing myself, I probably shoved it down into the depths of my being because resurfacing those feelings was just too painful. I would think, “was it my fault?” I would cry in the car, and apologize to her over and over again, but life went on. I crawled out of my sadness and was there for both my girls. We signed Mila up for Early Intervention, moved back to NJ, so we could be closer to family, and raised our kids,” stated Basia.
“When I think of those days, and I go back to those memories, I sink into grief. But then I go home, and see her – for who she really is, and she is not at all defined by her diagnosis. “She is joyful and playful, like any other child, and she is never the equivalent of what my mind has imagined, not even close. I just open my eyes, and see Mila, for Mila. Now she is 4 years old, and she would astound you – because she still astounds me every day. She not only knows all the letters, but can read about 40 words. She knows how to count to 20. She plays and sings and dances,” Raisa noted.
“She loves to run and jump, and she has a very gentle, loving, sweet personality (when she wants to be!). She will give out the warmest hugs to complete strangers. She constantly reminds us to slow down in this fast-paced life. Because of her, our other daughter, Sonya, is known in her classroom to be incredibly compassionate and emotionally available and mature. It will always be a challenge, and of course, I will worry; Will she have friends? Will she be included in school? Will she get married? Will she grow up to live independently? Will I outlive her? Will she outlive me and Andre? Who will take care of her?” The best we can do is prepare now for the future, and I have to always remind myself to open myself up to new possibilities, and open myself to her – to create and find community – so that she may always be included.”