Rare Diseases and Disorders in Children

Right now, doctors know of about 7,000 rare diseases.

In the U.S., a disease is “rare" if it affects less than 200,000 people. About two-thirds of rare diseases are in kids.

The Center for Rare Disease Therapy at UPMC Children's Hospital of Pittsburgh:

• Offers hope, cutting-edge treatment, and world-renowned expertise for kids with rare diseases and their loved ones.
• Has the newest treatments for infants, kids, teens, and young adults with rare disorders.
• Provides tailored services to every family who comes through our doors.

Common Types of Rare Diseases in Kids

These are the rare diseases passed down through genes that we most often treat at our center:

• Alpha-1-Antitrypsin Deficiency (AATD). This disease can cause liver and lung damage.
• Fabry Disease. When a child's body doesn't have the enzymes to break down lipids or fats. It can cause kidney and heart problems.
• Gaucher Disease. When a child's body can't break down a certain type of fat. It can cause life-threatening symptoms.
• Krabbe Disease. When kids are unable to make a certain enzyme. Their nerves lose their protective coat of myelin. This leads to nerve damage and severe symptoms.
• Maple Syrup Urine Disease (MSUD). When toxins build up in a child's blood and urine. These can smell like maple syrup and cause many health problems.
• Phenylketonuria (PKU). When a child's body can't break down a certain a protein. This protein builds up in the blood and causes problems.

Other Rare Diseases and Disorders We Treat at UPMC Children's Hospital

We treat many other genetic and rare diseases affecting kids, including:

• Adrenoleukodystrophy.
• Bare Lymphocyte Syndrome (BLS).
• Byler Disease.
• CANDLE Syndrome.
• Chronic Granulomatous Disease (CGD).
• Chronic Pancreatitis and Acute Recurrent Pancreatitis.
• Combined Immune Deficiency (CID) Syndromes.
• Combined Variable Immune Deficiency (CVID) Syndrome.
• Congenital Corneal Opacity (Peters Anomaly and Sclerocornea).
• Crigler-Najjar syndrome.
• Fatty Acid Oxidation Disorders.
• Glutaric Acidemia Type 1.
• Glycogen Storage Disorders.
• GM3 Synthase Deficiency.
• Hemophagocytic Lymphohistiocytosis (HLH) Syndromes.
• Hereditary Telangiectasia (HHT).
• Hunter Syndrome (MPS-II).
• Hurler Syndrome (MPS-I).
• Metachromatic Leukodystrophy.
• Methylmalonic Acidemia.
• Mitochondrial Disease.
• Niemann-Pick Disease Type C.
• Pompe Disease.
• Progressive Familial Intrahepatic Cholestasis.
• Propionic Acidemia.
• Severe Combined Immune Deficiency (SCID).
• Urea Cycle Disorders.
• Vanishing White Matter Disease.

Causes of Rare Diseases

Most rare diseases (about 80%) are genetic. This means parents often pass it down to their children.

But sometimes, the genes change on their own.

Other causes of rare diseases include:

• Infections.
• Exposure to toxic substances.
• Nutritional deficiencies.
• Injuries
• Adverse effects of treatment for another illness.

Why Choose UPMC Children's Center for Rare Disease Therapy?

You're not alone if your child has a rare disease.

A nationally-ranked leader in kids' health, UPMC Children's offers:

• Advanced, first-of-their-kind treatments. This includes novel approaches to organ, stem cell, and bone marrow transplants to cure some rare disorders.
• A team approach to care. We work together so loved ones can come to one place to get answers and see all specialists they need.
• Robust research and access to clinical trials. The field is advancing every day as researchers find new rare disease therapies. UPMC Children's loved ones can directly access these therapies and take part in clinical trials.
• A focus on the whole child. Not all rare diseases have a cure. We aim to help kids be kids and live their best lives. And we support loved ones through diagnosis and beyond.

Meet the world-renowned experts at the UPMC Children's Center for Rare Disease Therapy.