Pearson syndrome is a rare mitochondrial disease that affects the blood-forming cells in bone marrow. It has severe effects on the pancreas and often other organs. There’s no cure, but treatments can help keep your child comfortable.

What Is Pearson Syndrome?

Pearson syndrome is a rare and serious mitochondrial disease. Mitochondria are parts of your cells that turn food into energy. This energy powers your body’s organs and systems.

In Pearson syndrome, changes (mutations) in mitochondrial DNA affect how well your child’s cells make energy. This mainly impacts the bone marrow, pancreas, and other organs like the liver.

Usually diagnosed in infancy, the condition often can cause problems with blood, like shortages of:

Other names for Pearson syndrome include Pearson bone marrow pancreas syndrome and Pearson marrow pancreas syndrome.

Symptoms and Causes

Symptoms of Pearson syndrome

Pearson syndrome symptoms might include:

Other issues may develop over time, including:

Pearson syndrome causes

Pearson syndrome happens when there are defects in your mitochondrial DNA (mtDNA). Mitochondria, found in nearly all your body’s cells, produce the energy your cells need to function properly. When mitochondria are defective, cells don’t receive adequate energy, leading them to become damaged or die prematurely. Scientists haven’t yet fully understood why these mtDNA defects occur or how they directly lead to symptoms.

Is Pearson syndrome inherited?

Most cases of Pearson syndrome occur for unknown reasons. While it can be inherited (passed down from biological parent to child), those cases are rare and not well understood.

Diagnosis and Tests

How doctors diagnose Pearson syndrome

If your provider suspects that your child has Pearson syndrome, they may order the following tests:

A pathologist will look at bone marrow cells under a microscope to identify abnormalities. These can include blood cells that contain fluid-filled pockets or red blood cells with iron buildup.

Management and Treatment

How is Pearson syndrome treated?

There’s no cure for Pearson syndrome. Treatment aims to decrease symptoms and make your child more comfortable. This may include:

Children who live past infancy may need to see several specialists for their livers, kidneys, hearts and pancreases.

Outlook / Prognosis

What is the life expectancy for people with Pearson syndrome?

About half of people with Pearson syndrome die during infancy or early childhood. Only a few survive into their teenage years. The condition ultimately causes advanced lactic acidosis and organ failure.

How can I cope with Pearson syndrome?

Receiving a Pearson syndrome diagnosis can be overwhelming and difficult for your family. Surround yourself with supportive healthcare providers, family and friends. Joining support groups for families facing rare or serious childhood conditions might help you feel less isolated.

Educating others about mitochondria and Pearson syndrome isn’t your responsibility — plenty of resources exist. Your community likely wants to help but may be unsure how to do so. Be specific about your needs. Whether it’s spending private time with your child or having moments alone for yourself, clearly communicating your needs helps your community provide the right support. It’s OK to accept help with practical tasks like grocery shopping, dog walking or meal preparation.

A note from Wockr

Learning your child has a life-threatening illness like Pearson syndrome brings intense emotions. You may feel isolated because the disease is rare. Initially, the thought of joining support groups or researching resources may seem overwhelming or unnecessary. It’s normal to prioritize spending quality time with your child. But hang onto those recommendations just in case. Surrounding yourself with a network of support can help with any grief you’re feeling.