The journey often starts with a lifetime of strange symptoms, like severe, burning pain in the hands and feet, dark red skin spots that don't go away, and unexplained tiredness or digestive problems. After a long journey of tests, the person may finally be diagnosed with Fabry disease, a rare genetic disorder. A specialized treatment plan and a team of experts are needed to help people with this complicated, multisystem disorder. You need a "medical home" and a "team captain" at the center of that team to help you coordinate your care and support you for the rest of your life. Direct Primary Care (DPC) is the best way to fill this important role.
Fabry disease is a rare lysosomal storage disorder that is passed down through the X chromosome. It affects about 1 in 40,000 males. A lack of the enzyme alpha-galactosidase A causes it. Without this enzyme, globotriaosylceramide (Gb3), a fatty substance, builds up in cells all over the body, which damages organs over time.
A Disease That Gets Worse Over Time: This buildup of cells causes a lot of different signs and symptoms that get worse over time, such as:
Nerve Pain: Pain in the hands and feet that is very painful and burning (acroparesthesias), especially when you have a fever or are exercising.
Damage to the kidneys that gets worse over time.
Problems with the heart: An enlarged and weakened heart muscle (cardiomyopathy) and heartbeats that aren't regular (arrhythmias).
Brain Complications: A much higher chance of having a stroke, often when you're young.
Skin lesions: angiokeratomas, which are groups of small, dark reddish-purple spots.
There are now modern treatments that are specific to certain diseases: The goal of modern management is to start treatment as soon as possible to stop or slow down damage to organs that can't be fixed. Some of these advanced treatments are:
Enzyme Replacement Therapy (ERT) is an infusion of the missing enzyme through an IV every two weeks.
Oral Chaperone Therapy: A daily pill called migalastat that helps people with certain genetic mutations by making their own faulty enzyme work better.
Warning: DPC doctors don't give Fabry disease patients the specialized infusions (ERT) or oral chaperone therapy they need. A group of experts, usually a geneticist, nephrologist, or cardiologist, is in charge of this. DPC is an important part of a person's life as their primary care manager, care coordinator, and patient advocate. Here's why DPC is the best option for someone with Fabry disease:
Playing "Medical Detective" to Figure Out What's Wrong: DPC's long appointments and focus on continuity are important for putting together a diagnostic puzzle.
Putting the Pieces Together: A DPC doctor has the time to listen to a patient's complicated story about multiple systems and put together the clues that don't seem to fit—the nerve pain, the skin spots, and the kidney problems—to suspect a rare genetic disease like Fabry.
A timely referral: This high level of suspicion can end a patient's long search for a diagnosis by getting them to see a geneticist for definitive testing right away.
Leading a team of people from different fields for life: Someone with Fabry disease needs a lot of help from experts. Your DPC doctor is the head of the village.
Seamless Coordination: They make sure that your nephrologist (kidney specialist), cardiologist, neurologist, geneticist, and home infusion company all talk to each other clearly.
A Care Center: They are the main point of contact for you and your family, helping you get through a complicated and often confusing healthcare system.
A "Medical Home" for all-around, well-organized care: Your DPC doctor is your partner in good health.
Co-managing Your Therapy: They can help you with the details of your bi-weekly ERT infusions and be the first person you call if you have any side effects or reactions to the infusion.
Proactive Surveillance: They work with your specialty team to make sure you get your regular, lifelong monitoring done on time. This includes your annual echocardiograms, kidney function tests, and other necessary checks.
Helping with Family Screening: Since Fabry is a genetic disease, your DPC doctor, who may care for your whole family, is in a unique position to talk about and help with "cascade screening" for other family members who are at risk.
Case 1: Ben, who is 28 years old, has had episodes of severe burning foot pain since he was a teenager. These episodes were previously thought to be "growing pains." His new DPC doctor also sees some strange reddish spots on his skin during a long intake visit. The doctor takes the time to look into things, puts the pieces together, suspects Fabry disease, and sets up a referral to genetics. This leads to a diagnosis that changes the patient's life and the start of enzyme replacement therapy.
Case 2: Jessica, 48, has Fabry disease and gets ERT infusions every two weeks. Her DPC doctor is in charge of everything. The doctor carefully keeps an eye on her blood pressure with medications that are safe for her kidneys. He also makes sure she gets her annual echocardiogram and 24-hour urine protein tests on time and gives her ongoing psychosocial support for the difficulties of living with a chronic, progressive disease.
Q: Can Fabry disease be cured?
A: There is no cure for the genetic defect that causes the disease, but there are very effective treatments that work for that disease. Enzyme Replacement Therapy (ERT) and oral Chaperone Therapy can help get rid of the harmful buildup of Gb3 in your cells. Beginning these treatments early can greatly slow the disease's progression and stop or delay damage to major organs.
Q: How are ERT and Chaperone Therapy different?
A: ERT is an intravenous infusion that gives your body a man-made version of the enzyme it needs. Chaperone Therapy is a daily pill that only works for people who have certain types of GLA gene mutations. It works like a molecular "chaperone" to help the patient's own faulty, misfolded enzyme fold correctly so it can work again. The results of your genetic test will help you choose the right treatment.
Q: Who takes care of my Fabry disease, my DPC doctor or my team of specialists?
A: You need both, and it's a real team effort. Your team of experts, usually led by a geneticist or nephrologist, will plan your very specific, disease-specific treatment (like ERT). Your DPC doctor is the most important person in your daily life and the one who coordinates your care. They take care of your overall health, are the first and easiest people to call when you have a sudden problem, and make sure that all the different parts of your complicated care work together smoothly.
For people with Fabry disease, DPC is a clear advantage because it:
Doing an excellent job of the "detective work" needed to make a rare diagnosis: DPC's time and continuity are perfect for putting together the pieces of a complicated, multisystem disease that is often missed for years.
Offering care that lasts a lifetime and is well-coordinated: The DPC model is a great way to lead a big, diverse team that needs to work together to treat a lifelong genetic disorder.
Giving full support to the whole person: Taking care of not only the patient's disease-related problems, but also their overall health, their family's needs, and the illness's heavy psychological and social burden.
Having a rare genetic disorder like Fabry disease is a lifelong journey that needs a world-class team of doctors and a medical home that is always there for you. You need a partner who can see the big picture, help you with all of your complicated care, and be there for you every step of the way. Direct Primary Care is the caring, ongoing, and coordinated partner you need to help you get through this journey with confidence.
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