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Spina bifida is a birth defect that occurs when the spinal cord and the bones of the spine do not develop properly during early fetal development. It is a type of neural tube defect, where the neural tube, which forms the brain and spinal cord, fails to close completely. This defect can lead to a variety of physical and neurological issues, including paralysis, bladder and bowel problems, and cognitive impairments.
AICA ribosiduria is a rare metabolic disorder characterized by the abnormal accumulation of AICA riboside, a byproduct of purine metabolism, in the urine. It is caused by a deficiency in the enzyme AICA ribosidase, which is responsible for breaking down this compound. The condition is typically associated with neurological symptoms such as developmental delays, ataxia, and intellectual disability. Treatment focuses on managing symptoms, as there is no specific cure for AICA ribosiduria.
Beckwith-Wiedemann Syndrome is a very rare disorder that is present at birth. Causing an overgrowth of the tongue and body, it often requires intervention. The scariest party? It increases the risk of childhood cancer significantly. Theresa and her son, Owen, join us this week to talk all about this syndrome! Then, Dr.Aguilar, long time guest and friend of Hatching for Health, comes on to give his expert opinion. Watch this episode to learn more!
Leaky gut refers to increased intestinal permeability, where the lining of the gut becomes damaged, allowing toxins and harmful bacteria to pass into the bloodstream, potentially triggering inflammation and immune responses. This can disrupt the balance of gut bacteria and impair the body's natural detoxification processes, contributing to various health issues like digestive disorders, autoimmune conditions, and chronic inflammation.
A diaphragmatic hernia is a condition where an abnormal opening or defect in the diaphragm allows abdominal organs, such as the stomach or intestines, to protrude into the chest cavity. This can interfere with normal lung development and function, often leading to respiratory distress, especially in newborns. Diaphragmatic hernias can be congenital (present at birth) or acquired, and they typically require surgical repair to restore normal anatomy and prevent complications.
This week, I had the pleasure of sitting down with Chancee and her son, Lucas to talk about NKH, also known as nonketotic hyperglycinemia. Doctors didn’t think that Lucas was going to make it out of the NICU as an infant... but here he is, almost 3 years old. Tune in to this episode to learn more!