An extra copy of the 21st chromosome is the hallmark of Down syndrome, also known as Trisomy 21. With Down syndrome, each cell in the body contains 47 instead of 46 chromosomes. According to research, during the cell division of sperm or eggs, the 21 chromosomes fail to separate properly, resulting in 3 copies or an extra partial copy of chromosome 21. There are 47 chromosomes in the first cell at conception instead of the 46 chromosomes that are typical. In the case of a pregnancy that is carried to term and continues to divide this cell with three 21 chromosomes, a baby with Down syndrome will be born.
An extra chromosome was discovered to be the cause of Down syndrome in 1959 by a French geneticist by the name of Jerome Lejeune, who named it after John Langdon Down, the first British doctor to describe the condition.
There is no recognized cure or prevention for down syndrome. The only option that is controversial is aborting the fetus (even after a 24weeks old diagnosis) if the expectant mother had prenatal screening tests done during antenatal care. Since younger women have higher fertility rates—80% of kids with Down syndrome are born to mothers under the age of 35—recent research has indicated that the notion that the likelihood of having a child with Down syndrome grows with the mother’s age is gradually altering.
Congenital heart defects, mild to severe hearing loss, decreased eyesight, dementia, delayed tooth eruption/development, sleep apnea, respiratory and hearing problems, Hirschsprung’s disease, orthopedic and low muscle tone (hypotonia) in infancy are a few medical conditions that are more typical in people with down syndrome. In addition, if they experience developmental milestones and speech challenges, a speech therapist, a physiotherapist, and an occupational therapist may be required to help or assist them. As many of the ailments stated above are now treatable, most people with Down syndrome lead healthy lives and fulfilling lives with improved lifespans.
Nowadays, awareness about Down syndrome has increased significantly. Birthday celebrations for adults in their 70s to 80s have been documented recently. In the United Kingdom, Joyce Greenman, the oldest person with Down syndrome, passed away at the age of 87.
Even though Down syndrome is associated with intellectual difficulties, many people with the condition have successful lives in their communities. They frequently pursue education and higher education, work, and are independent. Loving households, competent medical care, early intervention, and educational, and employment assistance are all beneficial to people with Down syndrome.
Parents who learn that their child has Down syndrome go through a range of emotions, including shock, disbelief, and denial. They often ask themselves this common question “Why me?” After the truth is revealed, remorse, a fear of other people’s emotions, and worry about the future start to emerge. For instance, it might be easier to explain that a child is deaf than to explain this diagnosis to others. Although parenting a child with Down syndrome needs a lot of sacrifices from the family, it is not the end of the world, I can say for sure as a mother to Enoch, who has Down syndrome. Even though this journey may not have been planned, I assure you that it is worthwhile. Accepting your child for who they are and how they are blossoming, even if it’s not in the garden you had in mind, is the first step. Persons with Down syndrome are born with intellectual limitations and developmental milestones delays, but the population contains a wide range of talents that are impossible to predict in advance.
Many parents give up attempting to assist their children because they feel it is a waste of time and resources. In other instances, some people have even said that they wanted the child to pass away or leave. If a parent doesn’t demonstrate any enthusiasm for giving their child a voice or acting as their advocate, no magic should be expected. Honestly, life would have been really boring without Enoch. He brings light to my world. When receiving a down syndrome diagnosis, there is hope, and never forget that every child is a gift from God. I advise parents to become a part of a support group with other parents so they may share their perspectives and feel less stressed.
Having Enoch in my life has been a game-changer. I gained a lot of patience, and he has changed my perspective on life. He has taught me to never give up on my dreams and to be strong and content no matter what anyone may do to me. Because of my strength and maturity, I no longer get offended when people criticize my son. I must say that I am a blessed woman with something to say to everyone.
Quit blaming others and make every effort to support and sacrifice for your child. Slow down and calmly recognize every milestone achieved. Give it some time. Remember that you can only create a joyful world for your child; speaking up is one way to achieve that. As a parent advocate, I’m standing up to inform you that March 21st is World Down Syndrome Day, established to increase awareness of trisomy 21, the uncommon triplication of the 21st chromosome that causes Down syndrome. This day has been observed to increase understanding about Down syndrome since 2012. The theme for this year is “With Us Not for Us”. This day has been set aside to promote awareness of these remarkable individuals.
Ten years have passed since I was entrusted with caring for Enoch, God’s unique gift to me. From having to figure out what was wrong on my own because the doctor did not even tell me anything after birth, from needing to schedule frequent appointments at the psychiatric hospital and other hospitals, from having to explain what was wrong to others, and from seeking the help of specialists like a speech therapist, a physiotherapist, and an occupational therapist. I could go on and on about my studies into what the future holds and what to anticipate for him. However, the last thing I want to mention is that I’m not saying that Enoch has already arrived there in his life. He still has a long way to go before fully becoming the person God intends for him to be, but I’m trying very hard to get him there, and until then, I’ll keep speaking up for him and doing everything I can to support him.
I wish my handsome son a happy 10th-year anniversary. The sky is your launching pad, and the world is your oyster. Congratulations and many more years in good health with plenty of hugs. You are the best!!!
Happy Birthday Enoch, Down syndrome has nothing on you.
To join the support group I belong to, you can email firstname.lastname@example.org