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Gary Newton with his wife and granddaughter.

Lung condition leads to PI diagnosis after two-year medical odyssey

August 21, 2023
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Fireside chat with Emily V. Gordon

August 17, 2023

Bare lymphocyte syndrome type 1 and 2

Bare lymphocyte syndrome type 1 and 2 are forms of combined immune deficiencies (CIDs) characterized by a shortage of major histocompatibility complex (MHC) proteins.

Cartilage-hair hypoplasia

Cartilage-hair hypoplasia (CHH) is a skeletal dysplasia sometimes also referred to as immunodeficiency with short-limbed dwarfism. It is caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene.

Cincinnati Children's HLH Center of Excellence

Cincinnati Children’s is the most experienced hospital in the nation in treating hemophagocytic lymphohistiocytosis (HLH). Their HLH team includes researchers and physicians who have studied the disease extensively. They care for between 10 and 20 children with HLH a year, a large number considering how rare HLH is.

Insure Kids Now

This site, operated by the Centers for Medicare & Medicaid Services (CMS), provides information on state child and adolescent health insurance programs like Medicaid and the Children's Health Insurance Program (CHIP).

Probably Genetic

Probably Genetic is on a mission to make clinical-grade genetic testing affordable and accessible to the nearly 200 million undiagnosed rare disease patients worldwide. Our free testing program applies to all people in the U.S. (except New York) with symptoms suggestive of immunodeficiency disorders.

PAN Foundation

As a leading charitable foundation and healthcare advocacy organization, the Patient Access Network Foundation is dedicated to accelerating access to treatment for those who need it most and empowering patients on their healthcare journeys. Since 2004, our financial assistance programs have helped more than 1.3 million people to start or stay on life-changing treatment.

Dollar For

Most hospitals are required to have programs that discount or completely forgive bills for some patients. But they don’t make it easy. Dollar For helps individual patients navigate and access hospital financial assistance.

Patient Advocate Foundation

Patient Advocate Foundation (PAF) is a national 501 (c)(3) non-profit organization which provides case management services and financial aid to Americans with chronic, life threatening and debilitating illnesses.

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