Down Syndrome is a Chromosomal Disorder
Down syndrome is the name of the chromosomal disorder that can affect the fetus in the very earliest stages of its growth. When the egg is fertilized, 23 chromosomes come from the mother, and 23 from the father. Occasionally, however, an extra chromosome tags along. As the embryo develops, this extra chromosome is called trisomy 21 and it is replicated in every cell of the body, along with the other chromosomes. The result is called Down syndrome, and trisomy 21 is the most common cause of Down syndrome.
Jennifer Logan’s Story
Jennifer Logan, a Registered Nurse, was 38 when she became pregnant for the second time. Her husband and son were thrilled; Jennifer, however, had some concerns due to her age. At her first ultra sound, she was surprised to find out that she was pregnant with twins. As the pregnancy progressed, doctors alerted Jennifer to the fact that there was something wrong with one of the twin’s heart. Panic, fear and a host of other overwhelming emotions threatened to overwhelm the Logan family.
A 1 in 300 Chance
To even further complicate matters, Jennifer’s prenatal screening tests identified that one of the twins might have Down syndrome. Genetic counseling advised her that there was a 1 in 300 chance of Twin A having Down syndrome, but unless she opted for an amniocentesis they wouldn’t know for sure until the babies were born.
Jennifer and her husband Sean had about one month to digest all this information before the babies arrived. Jennifer moved through various emotions, including anger and sadness. She wondered why this happened to them when other women had perfectly normal babies. That’s when Jennifer decided that these were her babies, and that she was going to love them both equally. Down syndrome or not, her babies would be perfect
An Emergency C-Section
When her water broke on a cold February afternoon, Jennifer was prepared, even though it was several weeks too early. An emergency C-section delivered the babies, and Jennifer knew from the silence around one of the twins’ warming beds that Wyatt did indeed have Down syndrome. Cord blood testing revealed that baby Wyatt did indeed have Trisomy 21, a kind of Down syndrome.
Wyatt and Zoe spent a few weeks in the NICU of the hospital, and Wyatt had extra tests done to ascertain the severity and condition of his atrioventricular septal defect (AVSD), which is a heart defect very common in children with Down syndrome.
Two Babies can be Difficult
Dealing with two babies is difficult enough, but Jennifer discovered that when one of your babies has Down syndrome, there are additional hurdles that must be crossed. Baby Wyatt sees a cardiologist who monitors his AVSD; an ear, nose and throat specialist has to regularly clean out Wyatt’s smaller than average ear canals; an audiologist will monitor Wyatt’s progress as he learns to speak; an opthamologist will monitor the condition of his eyes and his eyesight; he will see a pediatric dentist sooner than most children and an occupational therapist will work regularly with Wyatt.