What If My New Baby Has Down Syndrome? – A Road Map To The Early Doctors Visits

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“Honey, Do you have the diaper bag?” she frantically asks as she fills bottles with formula.

“Yeah babe. We are ready…let’s go so we aren’t late!” he replies in a haste.

“What about the binky??? Don’t forget his binky!!!!” she implores.

“I’ve got it all…just get him in the car seat and let’s go!!!” he hollers from the driveway as he starts the car.

The first well baby visit with the pediatrician can be an exciting, scary, anxiety-filled, highly anticipated event for parents of a newborn. So many questions and so much to discuss from feeding to sleeping to growth and development. So much to remember and think about for parents as they embark on that infamous first year of life with their bundle of joy.

What if your newborn has Down Syndrome? Maybe you were diagnosed prenatally and are wondering what you (and your doctor) need to worry about. Maybe you are over 35 and expecting or trying to conceive and your doctor is telling you there is an increased risk your baby may have Down syndrome…what will this mean once he/she is born?

No doubt, you will have the same discussion played out between “honey” and “babe” in the dialogue above, but the discussion you have with your pediatrician at your first well baby visit will be slightly different. Sure, you will discuss feeding, sleeping, growth and development, but for your newborn with Down Syndrome there are some extra things your doctor should look into to ensure your baby is getting optimal care in order to grow and thrive. There are certain medical complications that children with Down syndrome are more prone to compared to newborns without this genetic difference. Please ensure that your physician is comfortable and trained in monitoring for these issues and that you are referred to the proper specialists if they are not. Below we will discuss these issues so you can ensure your baby is covered.

Let’s make this as simple as possible and go from head to toe. (We will only be covering the issues specifically different for infants with Down syndrome. We do suggest you make yourself familiar with all the topics covered in a standard well baby visit prior to seeing your pediatrician for the first time.)

Eyes:
Newborns with Down syndrome are at higher risk for certain abnormalities of the eye. Your physician should examine your baby for strabismus, cataracts, and nystagmus. All babies with Down syndrome should be referred to an ophthalmologist by 6 months of age for an exam and should be reexamined annually.

Ears:
Hearing impairment and recurrent middle ear infections are more prevalent in infants with Down syndrome. Your baby should have a hearing test prior to leaving the hospital after birth and should be referred to an ENT specialist if there are any concerns for hearing abnormalities.

Mouth/Throat:
45% of children with Down syndrome have some degree of Obstructive Sleep Apnea and should be monitored for this closely as it can adversely affect their heart and lungs over time. Please ask your pediatrician about this issue at your first visit.

Thyroid:
Your newborn should have been screened for hypothyroidism prior to leaving the hospital. Please ask your doctor to review these labs as infants with Down syndrome are more likely to be born with congenital hypothyroidism. This lab should be checked annually.

Heart:
All newborns with Down syndrome need an echocardiogram by a cardiologist within the first 6-8 weeks of life. Congenital heart defects are found in 44% of children with Down syndrome. Often the echocardiogram is performed prenatally or in the hospital prior to going home after birth.

Digestive Tract:
Many infants with Down syndrome having feeding difficulties for various reasons. They are more prone to gastroesophageal reflux, motility issues, duodenal atresia, and Hirchsprung’s disease. They also have varying degrees of hypotonia, which may make it difficult to latch during breast feeding (this will be discussed later). Any symptoms related to the digestive tract should be referred to a pediatric gastroenterologist.

Testes:
Your pediatrician should ensure that both testicles are down in your baby’s scrotum. Down syndrome infants are more likely to have undescended testicles that may need to be surgically brought down when they are a bit older.

Musculoskeletal:
Your baby should be checked for scoliosis and also have a thorough examination of their hips since infants with Down syndrome are more likely to have disorders of this joint.

Leukemia:
Although still rare, infants with Down syndrome are more likely to develop leukemia and should have a CBC drawn by their pediatrician.

Developmental:
All children suspected of having Down syndrome at birth should have genetic testing to confirm the diagnosis. You should be referred to a developmental pediatrician to establish early interventions to aid in development both at home and in school. You should also be referred to local support groups for guidance. Your developmental pediatrician should be able to help with feeding issues related to hypotonia, reaching developmental milestones, and assessing the growth of your baby (since there are specific growth charts for children with Down syndrome). They are the experts and should be able to answer any and all questions your pediatrician cannot.

So there is a quick guide to the major details that need to be addressed and monitored by your physician when you bring your newborn with Down syndrome for well baby visits. We know it is a lot to remember and think about. Make a list of questions for each visit and bring it with you…we actually like this and prefer it. We want to answer all of your questions. We want your child to be healthy and happy. Most of all we want to enhance the relationship you have with your new baby and help you love them with all of your heart.

Check out www.Brightbeacon.org and meet some other parents of kids with Down syndrome! Ask NoahsDad.com to be your friend and check out his daily video blog of Noah, chronicling their journey as a family with a newborn with Down syndrome…so cool and so cute!!!

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