Pittsburgh’s Children’s Hospital Doctor Dedicated to Treating those with Rare Disorders

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By Kaitlynn Riely / Pittsburgh Post-Gazette Each year, the Aldrian family makes a long journey. They fly from their home an hour north of San Diego to Children’s Hospital of Pittsburgh of UPMC. The person they travel so far to see is Maria Escolar. Dr. Escolar is director for the hospital’s […]

Family Calls for Krabbe Disease Testing to be Included in Newborn Screening

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Angel Custer and Anthony Shaffer must plan funeral arrangements for their little granddaughter even as they provide the care they hope will prolong her life. Sixteen-month-old Jaylah suffers from a inherited neurodegenerative disorder called Krabbe disease. She was born without an enzyme called galactocerebrosidase necessary to […]

Nicole Fights Breast Cancer in the Face of a Dying Son

“As long as my son is continuing to breathe and fight, then I’m going to do that,” Nicole Aldrian said, pictured above with her son, Trevor.

Nicole Aldrian was diagnosed with breast cancer in November 2012 and is had a bilateral mastectomy yesterday, but instead of worrying about her upcoming surgery, the Murrieta mom is concerned about not being able to care for her four year-old son Trevor while she is in […]

Anayas Angels: One Moms’ Discovery of Life and Loss with Krabbe Disease

Anaya had Krabbe disease: a terminal illness that is treatable if it is tested for at birth, before symptoms begin.

My youngest daughter, Anaya, was born August 26, 2009. She was perfect, normal and extremely beautiful. She delighted us with her presence and we reveled in our new baby. A few months later, she became very ill, and we rushed her to the Emergency at […]

Haley Suffers From Life Threatening Rare Disease Called Krabbe That Impacts Myelin In Her Brain

Sweet Haley is living with Krabbe disease

In December 2010, Haley was diagnosed at Duke University Hospital with a rare genetic disorder called globoid-cell leukodystrophy, or also known as Krabbe disease. A defect in the GALC gene causes Krabbe disease. Persons with this gene defect do not make enough of a substance called […]

Krabbe Disease Steals Baby Ginevra Every Ability But Not Her Sweet Spirit

Ginevra has Krabbe disease and is fighting for her life

My daughter Ginevra was born the on December 16,2010.  She was a healthy baby girl, without any problems.  At 4 months old, she started crying night and day.  In July 2011, Ginevra was diagnosed with Krabbe disease.  Krabbe disease (also called globoid cell leukodystrophy) is […]

A Boy with a Rare Disease Called Krabbe Creates a Legacy – Meet Judson Levasheff

Sweet little Judson lost his life in 2007 from late-onset Krabbe Disease but is creating a legacy

Judson Levasheff, born Christmas Eve 2004, was a vibrant, bright, and articulate little boy when his body suddenly and rapidly began to deteriorate. Over a period of just five months, Judson became completely paralyzed, blind, and mute.  Judson died November 7, 2007 from late-onset Krabbe […]