Research for Rare Disease: Giving Hope to Families Who Are Searching for Answers

In the United States, a rare disease is defined as one that affects fewer than 200,000 people in the country. According to the Centers for Disease Control (CDC), 30 million people in the United States have a rare disease—and about half of them are children. However, some may feel like they are the only person in the world with their condition. And in the rarest of rare cases, that can be true. Sometimes rare diseases are caused by unique mutations, or changes, in a child’s genes (genetic instructions).

How Are Rare Diseases Diagnosed?

Newborn screening panels (a standard set of tests done using a blood sample from newborn babies) help identify children who have rare diseases. Some of the rare diseases found by newborn screening include:

• Sickle cell disease
• Cystic fibrosis
• Disorders that affect digestion
• Hormone disorders
• Enzyme deficiencies
• Immune system disorders

Babies with these diseases do better if the disease is found and treatment starts early. As doctors and researchers learn more about rare diseases and develop more treatments, more are added to the newborn screening. 

But what about the children who have rare diseases that are not found by newborn screening? 

Children with symptoms that don’t quite fit with typical diagnoses often begin a long journey to finding one. It may be hard for them to find treatments that help their symptoms. It might even be hard for them to feel their doctors are taking them seriously. 

Feeling frustrated, alone and anxious are common among children and families who are dealing with undiagnosed conditions. Thanks to social media and the internet, more families of children with rare or undiagnosed conditions are connecting virtually. This helps them form support systems and share information and resources.

Advances in genetic and genomic testing are making it easier for some rare diseases to be diagnosed faster. At the Steve and Cindy Rasmussen Institute for Genomic Medicine, researchers and clinical geneticists work together to identify new mutations (or variants) in genes that could cause disease. Through clinical trials, they work with families who are looking for answers to their child’s undiagnosed condition.

What Treatments Are Available for Rare Diseases?

Some rare diseases are understood and have treatments, such as hemophilia. Hemophilia is an inherited disorder (passed along by a parent) in which blood does not clot properly. A cut that would usually not be a problem could be very dangerous for a child with hemophilia. About 400 babies are born with hemophilia A each year in the United States. Treatments to prevent and stop bleeding are effective, but there’s no cure yet.

Other rare diseases have no effective treatments available. Families and providers use the therapies available to treat the symptoms, but the disease goes on and the child’s health gets worse. 

Gene therapy is a growing field that offers a lot of hope to children and families affected by rare diseases. By replacing the defective (not normal) gene, gene therapy offers an opportunity to stop or slow down the disease. 

One example of gene therapy was developed by researchers here at Nationwide Children’s for spinal muscular atrophy (SMA). Before this gene therapy became available, children with the most severe form of SMA, type 1, rarely lived past age two. Now, the therapy is approved by the Food and Drug Administration (FDA), reducing the progression of symptoms and prolonging the lives of children with SMA.

Researchers in the Center for Gene Therapy and around the world continue to study rare diseases and how gene therapies could be used for treatments. For more information, call (614) 722-5615.