The journey often starts when a child is born with physical birth defects or when a young child bruises easily, gets sick often, and is always tired. When this leads to the diagnosis of Fanconi Anemia (FA), an extremely rare and serious genetic disease, it marks the beginning of a lifelong journey that requires an army of specialists and an incredible amount of family strength. A family needs a "medical home" in the middle of this complicated medical world. This is a primary care partner who is reliable, caring, and very well-organized. This is the main job that Direct Primary Care (DPC) is set up to do.
Fanconi Anemia is a very rare (it happens in about 1 in 130,000 births) but serious genetic disease that affects many parts of the body. FA is basically a problem with DNA repair, which means that the cells in the body can't fix the normal damage that happens to their DNA. This results in three significant health issues.
The Three Main Parts of FA:
Progressive Bone Marrow Failure: The bone marrow, which makes blood for the body, slowly stops making enough of all three types of blood cells. This makes you tired (because of anemia), puts you at a higher risk of serious infections (because of low white blood cell counts), and makes you bleed or bruise easily (because of low platelets).
Congenital Anomalies: Many kids with FA are born with physical birth defects, like problems with their kidneys, skin discoloration, or bones that aren't normal (especially in their arms and thumbs).
Very High Lifetime Cancer Risk: Genetic mistakes build up over time because the body's cells can't fix their DNA properly. This greatly increases the chances of getting blood cancers like Acute Myeloid Leukemia (AML) and solid tumors, especially aggressive squamous cell cancers of the head, neck, and gynecologic areas. People with these cancers tend to get them at a much younger age than the general population.
Management is ongoing and rigorous: A hematopoietic stem cell transplant (HSCT) is the only way to fix the bone marrow failure. But even after a successful transplant, there is still a high risk of solid tumors for life, so close monitoring is needed for life.
Disclaimer: DPC doctors do not treat the cancer or bone marrow failure that comes with FA. A major medical center has a very specialized team of hematologist-oncologists and transplant doctors who do that. DPC's most important job is to be the family's primary care coordinator for life, the first responder for sudden illnesses, and the family's constant advocate. Here's why DPC is the best choice for a family on this journey:
Leading a lifelong team of people from different fields:
One of the most complicated medical care teams is for someone with FA. Your DPC doctor is the leader of the team.
Seamless Coordination: They make sure that your hematologist, oncologist, endocrinologist, ENT surgeon, gynecologist, and other specialists can talk to each other clearly. This helps them make a single, cohesive care plan.
A Place for Your Family to Gather: They are your main point of contact and will help you find your way through a healthcare system that can be confusing and overwhelming.
A Watchful "First Responder" for Serious Problems:
This is a very important safety job, and DPC's access is very important.
Immediate Access for Fevers: If someone with FA has bone marrow failure and gets a fever, it is a medical emergency. DPC's 24/7 direct access lets you get an immediate evaluation and set up urgent hospital care, which can save your life.
Driving lifelong, proactive monitoring and prevention:
Your DPC doctor is your partner in the important cancer screening that FA survivors need to do for the rest of their lives.
Careful screenings: They can do the regular, thorough skin and mouth exams that are needed to look for early signs of squamous cell carcinoma.
Preventive Care: They make sure you get important preventive care, like the HPV vaccine, which can lower the risk of getting some types of cancer that FA patients are very likely to get.
Full support for the whole family:
The DPC relationship gives you a reliable, trustworthy source of psychosocial support, guidance for the future, and help with dealing with the many problems that come with this disease, such as the hard change from pediatric to adult care.
Case 1: Eight years old Chloe, who has Fanconi Anemia and a low white blood cell count, gets a fever on a Sunday. Their DPC doctor's cell phone rings. The doctor knows that Chloe's fever is a real emergency, so he tells them to go right away to the children's hospital ER and calls the on-call pediatric hematologist to give a full report. This way, Chloe will get the right care as soon as she gets there.
Case 2: Ben, who is 28 years old, survived a stem cell transplant as a child for his FA. His DPC doctor is now in charge of all of his follow-up care after cancer. During his semi-annual visit, the DPC doctor does a thorough oral cancer screening exam, looks over his bloodwork to check for late effects of his transplant, and talks to him about how important it is to stay away from alcohol and tobacco to lower his cancer risk even more.
Q: Is there a way to get rid of Fanconi Anemia?
A: A hematopoietic stem cell transplant (HSCT) can fix the bone marrow failure part of the disease, which is the most common cause of death in children. But the transplant doesn't fix the DNA repair problem that is happening in the other cells in the body. So, the risk of getting solid tumors stays high throughout your life, and you need to keep an eye on it all the time.
Q: Why is the risk of cancer so high in Fanconi Anemia?
A: Our bodies have complex ways of fixing the damage that happens to our DNA every day. The genes that are affected in Fanconi Anemia are a big part of this repair system. When that system isn't working right, cells can make genetic mistakes more easily, which can lead to cancer over time.
Q: Who should we call first if our child with FA gets sick?
A: Your DPC doctor. They are the medical expert you can reach the easiest. They can quickly evaluate your child and decide what to do next based on their complicated medical history and current blood counts. This could mean supportive care at home, an immediate visit to their office, or a direct trip to the hospital.
DPC gives families dealing with this rare and terrible disease a clear edge by:
Giving a "first responder" for serious complications: DPC's quick access is important for dealing with serious and urgent problems, like a patient with bone marrow failure who has a fever.
Doing well with Lifelong, Coordinated Surveillance: The DPC model is perfect for leading the big, multidisciplinary team and the intensive, lifelong cancer screening that FA needs.
Providing invaluable support for the whole family: The strong, long-term relationship gives families a reason to trust each other as they deal with the huge medical and psychological burdens of this disease.
Fanconi Anemia is a long road full of love, support, and expert medical care. Your child needs a group of the best doctors in the world, and your family needs a strong leader to lead that group. Direct Primary Care is your child's and family's medical home that is caring, organized, and always there for you through every challenge and every victory.
