Since the day Elijah was born his mom Sarah didn't feel that his breathing was typical. She shared her concerns with the medical staff but they told her not to worry and that Elijah's breathing was normal. Sarah knew in her gut that something was off and with each new diagnose her gut feeling became stronger and stronger. After 18 months of finding different diagnosis Elijah was finally sent to see genetics. As they were walking into the genetics appointment, the geneticist looked at Elijah and said, "Your son has 22q, I need to run all of these blood tests to confirm that."
Within this episode we discussed:
Bronchiolitis is a common lung infection in young children and infants. It causes swelling and irritation and a buildup of mucus in the small airways of the lung. These small airways are called bronchioles. Bronchiolitis is almost always caused by a virus. Bronchiolitis starts out with symptoms much like a common cold.
Torticollis is a condition where your baby's neck muscles cause their head to twist and tilt to one side. It may look like your infant's neck is rotated at an odd angle. The top of their head may be tilted to one side and their chin may be tilted to the other side. Torticollis is also called wryneck.
Tethered spinal cord syndrome is a neurologic disorder caused by tissue attachments that limit the movement of the spinal cord within the spinal column. These attachments cause an abnormal stretching of the spinal cord. This syndrome is closely associated with spina bifida.
Bronchomalacia is a problem with the cartilage in your lungs, leading to wheezing and trouble breathing.
PDA is a heart defect found in the days or weeks after birth. It occurs because a normal fetal connection between the aorta and the pulmonary artery does not close as it should after birth.
Left ventricular hypertrophy is a thickening of the wall of the heart's main pumping chamber. This thickening may result in elevation of pressure within the heart and sometimes poor pumping action.
Ear tubes are tiny, hollow cylinders that are surgically inserted into the eardrum. This opening enables drainage of the middle ear, allows air to flow into the middle ear and prevents the buildup of fluids behind the eardrum.
Gastroesophageal reflux (GER) happens when your stomach contents come back up into your esophagus. Gastroesophageal reflux disease (GERD) is a more severe and long-lasting condition in which GER causes repeated symptoms or leads to complications over time.
Gastroparesis, also called delayed gastric emptying, is a disorder that slows or stops the movement of food from your stomach to your small intestine, even though there is no blockage in the stomach or intestines.
22q Family Foundation www.22qfamilyfoundation.org
Joseph Piccione, DO, MS, is the Pulmonary Director for the Center for Pediatric Airway Disorders and an attending pulmonologist at Children’s Hospital of Philadelphia who cares for children with airway disorders.
Sarah on Instagram @sarah51884If you would like to contact the 22q Podcast with any questions, comments or if you are interested on being on this podcast email Becky at [email protected]. Don't forget to subscribe and share this podcast to help raise awareness about 22q. And never forget 22q family that YOU are not alone.
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