Understanding
Fanconi Anemia (FA)

Could it be FA?

Although FA is extremely rare, you as a parent may be the first to notice some of the signs and symptoms of this genetic disorder such as:

  • born with a missing or undeveloped thumb or arm bone
  • low birth weight or shorter length
  • heart or kidney issues
  • small head and/or eyes
  • gastrointestinal symptoms

If you are concerned about any of these, or other symptoms your child has, have a discussion with your child's doctor who can point you in the right direction.

FA in the US and Europe
Total with
disease:
New cases
each year:

The symptoms of FA can vary from child to child.

FA is a rare, inherited disease that, over time, causes what’s known as bone marrow failure, or when bone marrow stops producing enough healthy blood cells. Signs and symptoms of FA can be seen during pregnancy, infancy, and childhood, and can include any or many of the following:

Symptoms during pregnancy or at birth
  • Missing or underdeveloped thumb or arm
  • Low birth weight, shorter length
  • Missing or misshapen kidney, sometimes called a “horseshoe” kidney
  • Heart defects
  • Small head and/or eyes
  • Gastrointestinal issues
Symptoms that may develop later in early childhood:
  • Café au lait spots
  • Easy bruising and bleeding
  • Missing developmental milestones
  • Rash

Why diagnosing FA early is so important.

Since FA has a wide range of symptoms, children often see many specialists and are typically not diagnosed until they are around 7 years old, although this varies based on a child's specific symptoms and their severity.

As delays in diagnosis occur, there is an increased risk of bone marrow failure going unmanaged. Patients are predisposed to cancer or other potential complications.

Diagnosing FA earlier allows children to be monitored and cared for by the right doctors before they may experience bone marrow failure or need a bone marrow transplant.

While FA was once thought to be a childhood disease, there are now adults with FA living into their 30s and beyond. Additionally, advancements in medicine are leading to potential treatments for the disease.

If your child is diagnosed with FA, there is a 25% chance that other children you have may also have FA.

Make sure to get genetic or reproductive counseling before getting pregnant again.

Increased Risks of Cancer—Individuals with FA have a higher risk of getting certain blood, skin, or head and neck cancers—making it extremely important to diagnose early and get your child the care they need.

Support Is Available—Beyond the physical complications of FA, parents and children must cope with the reality of the diagnosis and the uncertainties of a future filled with health complications. It may also leave parents and their children feeling socially isolated, since the disease is not well known. The good news is, they are not alone—research, support, and advocacy groups like the Fanconi Cancer Foundation can help.

Diagnosing FA early is very important and can help you and your child:

  • Ensure you see a bone marrow failure specialist
  • Get an earlier start with appropriate monitoring and treatment
  • Build a care community of people who understand what living with FA is like
  • Get any additional support you need throughout your care journey

Testing may provide answers.

Special testing known as a chromosome breakage test is the only way to know for sure if your child has FA. Knowing that FA is a disease that gets worse over time, likely resulting in bone marrow failure and/or progression to cancer, it is extremely important to advocate for your child to get the timely and accurate testing they need.

Three types of doctors can help with testing for FA:

  1. Geneticists
  2. Genetic counselors
  3. Pediatric hematologists/oncologists (HEM-ONCs)

You have the power to make a difference in your child’s care.

As a parent, you have the power to get the answers you need to help your child. If you suspect FA, talk with your child's doctor about testing.

Ask your child’s doctor, “Could testing for FA give us the answers we need?”

Want to learn more about FA? Get connected to our community today.

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References: 1. Fanconi Cancer Foundation. Fanconi anemia clinical care guidelines. Fifth Ed. 2020. Accessed April 14, 2024. https://www.fanconi.org/images/uploads/other/Fanconi_Anemia_Clinical_Care_Guidelines_5thEdition_web.pdf 2. Alter BP. Hematology Am Soc Hematol Educ Program. 2017. 2017(1):88-95. 3. Fiesco-Roa MO, et al. Blood Rev. 2019;37:100589. 4. Data on file, Rocket Pharmaceuticals, Inc. 5. Mehta PA, Ebens C. Fanconi anemia. Updated June 3, 2021. GeneReviews [Internet]. Accessed April 18, 2024. https://www.ncbi.nlm.nih.gov/books/NBK1401/ 6. Clinicaltrials.gov. Fanconi anemia. Accessed April 22, 2024. https://clinicaltrials.gov/search?cond=fanconi%20anemia 7. Kutler D, Singh B, Satagopan J, et al. Blood. 2003;101(4):1249-1256. 8. Fanconi Cancer Foundation. Fanconi anemia clinical care guidelines. Fourth Ed. Accessed April 24, 2024. https://www.fanconi.org/images/uploads/other/Chapter_18_Guidelines_4th_Edition.pdf