Stories about: Diseases & Conditions

Family Advocacy Day: Three families take their stories to Congress

Nova, who has Pfieffer syndrome, walks through a park.
Nova is taking her story to Congress

Later this June, three patients from Boston Children’s Hospital will be joining other kids and young adults from across the country at the 2018 Speak Now for Kids Family Advocacy Day in Washington, D.C. During their visit, they will share their stories with Congress and ask them to protect all children’s access to health care.

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Managing autoinflammatory diseases in children

Yoga and relaxation can be beneficial to children with autoinflammatory diseases

Autoinflammatory diseases are a group of rare illnesses that cause recurrent episodes of fever and inflammation resulting from inappropriate activation of the immune system. While some have unknown causes, autoinflammatory diseases are often caused by genetic mutations. Symptoms include acute episodes of fever and other symptoms such as joint pain, rash, sores in the mouth, enlarged glands or abdominal pain, depending on their underlying illness.

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Esophageal atresia: Sorting fact from fiction

esophageal atresia

Will a diagnosis of esophageal atresia affect my child’s weight? Are recurrent respiratory infections normal? How long should my child stay on proton-pump inhibitors?

As the patient coordinator for the Esophageal and Airway Treatment Center at Boston Children’s Hospital, Dori Gallagher, RN, fields questions like these every day from patients around the world concerned about their children with esophageal atresia. In this condition, a baby is born without part of the esophagus (the tube that connects the mouth to the stomach). Instead of forming a tube between the mouth and the stomach, the esophagus grows in two separate segments that do not connect. Without a working esophagus, it’s impossible to receive enough nutrition by mouth. Babies with esophageal atresia are also more prone to infections like pneumonia and conditions such as acid reflux.

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SMA and Spinraza: A tale of two siblings

Kernan and Braeden Farrrell, who have spinal muscular atrophy, wave for the camera. When Kernan Farrell started falling and losing developmental milestones shortly before her second birthday, her parents, Kristen and Jim, knew the cause right away. Like her older brother, Braeden, she was born with the gene for spinal muscular atrophy (SMA), a rare genetic condition that causes weakening muscles throughout the body. They had been watching and waiting, wondering if and when Kernan might start showing signs of the condition.

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