Gaining Ground – Genetic Services (Down Syndrome)
December 22, 2008
Jennifer knew something was wrong with her baby right after Hannah, her third child, was born. A sonogram during her pregnancy detected no problems, but Jennifer, a nurse, noticed the baby had problems breathing in the delivery room. Hannah was later diagnosed with Down syndrome.
“It came as sort of a shock because I was only 33, so I didn’t have any tests for Down syndrome,” said Jennifer. “As a nurse, I knew the many medical problems associated with Down syndrome and I was worried about Hannah.”
In fact, Hannah, who is now 11, was born with respiratory problems and two heart defects. Ventricular Septal Defect (VSD), sometimes called a “hole” in the heart, is a defect between the heart’s two lower chambers. It sometimes closes on its own during childhood so cardiologists are periodically monitoring Hannah’s heart. Patent Ductus Arteriosus (PDA) is an abnormal circulation of blood between two of the major arteries near the heart. When Hannah was eight months old, her PDA was surgically closed.
Down syndrome, is the most common genetic cause of cognitive and developmental disabilities. Some 50 to 60 babies are born with it per year in San Diego County. It is caused by an extra chromosome formed during conception. Women age 35 and older have a significantly higher risk of having a child with the condition. Screening tests are only 60 percent accurate and often lead to false-positive or false-negative readings. Diagnostic tests such as amniocentesis, removal of amniotic fluid, chorionic villus sampling, taking a small piece of the placenta, and percutaneous umbilical blood sampling, taking blood from the umbilical cord, all carry risks of complications such as miscarriage.
Jennifer said the new Down Syndrome Center that opened in January at Rady Children’s Hospital would have helped her navigate the special challenges Down syndrome creates for families of children with the condition. Jennifer plans on volunteering at the center later this year.
“It is wonderful – everything you need in one place,” she said. “They know all the referrals and have all the specialists right there so they can coordinate the best treatment for each child. Early intervention is so important.”
Initially, Jennifer had to quit her job to coordinate Hannah’s care. She made all of Hannah’s doctor’s appointments and became a school advocate for her daughter. Jennifer has since transitioned to work as a school nurse in the Del Mar School District so she can monitor Hannah who attends Carmel Del Mar Elementary school in general education.
Although her heart problems were largely addressed, her respiratory problems became worse when Hannah turned 2 ½ to 3 years of age. She often caught colds that quickly turned into asthma attacks and then pneumonia. Doctors often treated the cold symptoms but not the asthma. She was kept out of preschool for six months because the family could not risk any more episodes of pneumonia, which were causing Hannah lung damage.
“When she was 3, we took her to Dr. Sung Min Park, a pulmonary physician at Rady Children’s, who literally saved Hannah’s life,” said Jennifer. “He treated Hannah’s asthma aggressively with drugs. He is still very proactive with her case. I don’t think Hannah would be where she is today without his early case management.”
Park, head of Rady Children’s Respiratory Department for 32 years, said asthma and respiratory problems are very common among Down syndrome children.
“Hannah would present with symptoms of a common cold but she became sicker and sicker,” said Park. “Asthma was underlying all of her problems. Without proper treatment it becomes a vicious circle and she would have trouble fighting the next attack.”
Park put Hannah on corticosteroids and he recommended keeping her out of school most winters to avoid colds. Now that she is older, she can stay in school during the winter. Aggressive treatment is employed at the first sign of an asthma attack. Hannah still sees Park every six months to a year to check on any respiratory problems. Her pediatrician, Dr. Steven Balch, monitors her on a regular basis. Hannah also receives continuing speech therapy sessions at Rady Children’s.
Hannah, who will attend fifth grade next fall, is a very active little girl. She played for three seasons in a Miracle League Baseball team and she loves to swim. She has many friends at school and wants to go to the beach this summer to learn to surf. Hannah also enjoys playing with her 13-year-old brother, Cameron.
“Hannah is very high-functioning for a child with Down syndrome,” said her father Steve, a nurse for the Veteran’s Administration. “We gave her lots of opportunities to achieve success and she has done very well with all of them. She is just a great, great kid.”
New Down Syndrome Center for Children at Rady Children’s
The new center for children with Down syndrome is the only comprehensive health care clinic of its kind in Southern California.
Dr. Lynne Bird, a geneticist and specialty care physician, manages the center with the help of private funding raised by DS Action, a locally based advocacy and support group for families with children who have Down syndrome.
“The fact that a group of parents helped set up this center speaks to the need for such a resource in the community,” said Dr. Bird.
The experts gather in a one-stop health-care shop to handle virtually every issue related to Down syndrome, including mild-to-moderate mental retardation, hypertension and hearing and vision problems. Veteran nurse Debbie Childs-Alston helps provide a continuum of care, including helping families access dental checkups, genetic counseling and speech therapy.
Parents love the support they’re getting from each other at the center and seeing what is possible for their kids with the right care, hospital officials said.
Originally published in Kids’ NewsDay, San Diego Union-Tribune,
October 7, 2008.