Who Should Be on Your Rare Disease Care Team?

Living with a rare disease often means working with more than one healthcare provider. For individuals and families affected by Generalized Arterial Calcification of Infancy (GACI), ARHR2, ENPP1 Deficiency, ABCC6 Deficiency, and related conditions, care can involve several medical specialties because these conditions may affect different parts of the body throughout a person’s life.

GACI primarily affects the circulatory system and can involve other organs, while ENPP1 Deficiency may also affect bones, joints, hearing, eyes, teeth, growth, and mobility. ABCC6 Deficiency can affect the vascular system as well as the eyes and skin. ARHR2 is particularly associated with phosphate loss, rickets, bone, joint, and muscle pain, skeletal changes, and other complications.

That means there is rarely a single doctor who manages every aspect of care.

However, not every patient will need every specialist listed below. Your care team should be based on your diagnosis, age, symptoms, medical history, current treatment, and individual needs.

Rare Disease Care Looks Different Around the World

Brighter Hope Foundation supports families around the world, and access to rare disease specialists can vary significantly depending on where you live.

In pediatric care, families often receive comprehensive, coordinated support through a children’s hospital, metabolic bone center, or dedicated rare disease clinic. However, as patients transition into adult healthcare systems, care frequently becomes less centralized, and the benefit of a single multi-disciplinary team may no longer be available. Adults may need to build their own network of individual specialists – such as endocrinologists, cardiologists, or nephrologists – working alongside a primary care physician or general practitioner.

Regardless of age, some patients may need to travel significant distances for specialized appointments, while others can utilize telemedicine to consult with experts experienced in their condition. Referral processes, medical specialty names, healthcare coverage, and provider availability also differ between the United States, European countries, and other global regions.

The goal is therefore not necessarily to have every specialist in the same hospital or even the same city. What matters is having access to the appropriate expertise and, whenever possible, good communication between the providers involved in your care.

Brighter Hope’s FAQ and Glossary also provides information for families looking for doctors or hospitals with experience treating GACI and ARHR2.

Who Might Be Part of Your Rare Disease Care Team?

Depending on the patient’s needs, a care team for GACI, ARHR2, ENPP1 Deficiency, or ABCC6 Deficiency may include several types of healthcare professionals.

Primary Care Provider or Pediatrician

A primary care provider, general practitioner, or pediatrician can serve as an important central point in a complex care team.

While rare disease specialists may manage condition-specific concerns, primary care providers continue to oversee everyday health needs, including routine examinations, vaccinations, common illnesses, developmental concerns, and general wellness.

They may also help coordinate referrals, maintain an updated medical history, monitor changes in overall health, communicate with specialists, and help patients or caregivers  decide when a new symptom may require additional evaluation.

For patients  seeing specialists at multiple hospitals or medical centers, having a local provider who understands the overall picture can be particularly valuable.

Geneticist and Genetic Counselor

GACI and related conditions have known genetic causes, making clinical genetics an important part of care for many patients.

GACI Type 1 and ARHR2 are associated with mutations in the ENPP1 gene, while GACI Type 2 is associated with mutations in the ABCC6 gene. Brighter Hope’s Genetics & Inheritance resource explains these relationships in greater detail and provides information about inheritance patterns and genetic testing.

A medical geneticist or genetic counselor can help patients or caregivers understand genetic test results, discuss how a condition is inherited, determine whether testing may be appropriate for other family members, and talk through what a genetic diagnosis could mean for future family planning.

Because knowledge about rare genetic diseases continues to evolve, patients may also benefit from revisiting their genetic information over time.

Cardiologist

While early cardiology care can be critical for babies and children diagnosed with GACI, ongoing cardiovascular monitoring remains essential throughout adulthood.

GACI is characterized by abnormal calcification and narrowing of medium- and large-sized arteries. This can restrict blood flow and place significant strain on the cardiovascular system.

A cardiologist may monitor heart function, blood pressure, circulation, and changes in the arteries through physical examinations, cardiac imaging, and other testing determined by the patient’s medical team.

The type and frequency of cardiovascular monitoring will depend on the individual’s diagnosis, age, symptoms, and medical history. Families can also learn more about approaches to managing cardiovascular and other complications on Brighter Hope’s Treatment Options page.

Nephrologist

A nephrologist specializes in kidney health, and kidney monitoring can be an important part of care for some individuals with GACI, ENPP1 Deficiency, and ARHR2.

For patients with ARHR2, one concern is nephrocalcinosis, or calcium deposits within the kidneys. Kidney monitoring may be especially important for patients receiving phosphate supplementation as part of their treatment.

A nephrologist may monitor kidney function, calcium and phosphate balance, calcium levels in the urine, nephrocalcinosis, and other kidney-related complications.

For patients being treated for ARHR2, communication between nephrology and endocrinology can be especially important as providers work to support both bone and kidney health. For more information on terms such as nephrology or nephrocalcinosis, you can find additional explanations in Brighter Hope Foundation’s FAQ and Glossary of Terms.

Endocrinologist or Metabolic Bone Specialist

An endocrinologist—particularly one with experience in metabolic bone disorders—may play a major role in caring for individuals with ARHR2 and ENPP1 Deficiency.

ARHR2 causes the kidneys to lose too much phosphate, resulting in low phosphate levels in the blood. Because phosphate is essential for healthy bone mineralization, this can contribute to rickets, bone deformities, pain, fractures, growth concerns, and other skeletal complications.

An endocrinologist or metabolic bone specialist may monitor phosphate and mineral metabolism, bone health, growth, laboratory results, rickets or osteomalacia, and medications or supplements used as part of treatment.

Because treatment needs can change as a child grows or as an adult’s condition changes, continued follow-up may be important.

Audiologist

Hearing should not be overlooked when building a rare disease care team.

Hearing loss can occur in people with ENPP1 Deficiency and GACI, and may be present from birth or develop later.

An audiologist can evaluate hearing and monitor changes over time. If hearing loss is identified, audiologists and other hearing specialists can help determine appropriate interventions, devices, or accommodations.

For children, identifying hearing difficulties early may also support speech development, communication, learning, and participation at school.

Ophthalmologist

Some patients with ENPP1 Deficiency or ABCC6 Deficiency may develop eye-related complications.

For example, ABCC6 Deficiency may present later in life as pseudoxanthoma elasticum (PXE), which can affect the eyes as well as the skin and vascular system.

An ophthalmologist can examine structures within the eye, monitor for changes, and determine whether treatment or additional follow-up is necessary.

The need for ophthalmology care and the frequency of examinations will vary depending on an individual’s diagnosis, age, symptoms, and medical history.

Dentist and Dental Specialists

Dental care can also be an important—and sometimes overlooked—part of rare disease management.

People affected by GACI, ENPP1 Deficiency, and ARHR2 may experience dental abnormalities such as over-retained primary teeth, infraocclusion, ankylosis, slow orthodontic movement, and changes involving the roots of the teeth.

Regular dental care may help identify concerns early.

Depending on the patient’s needs, care could involve a general dentist, pediatric dentist, orthodontist, or another dental specialist. It can also be helpful for families to make sure their dental provider understands the patient’s rare disease diagnosis and relevant medical history before beginning significant dental or orthodontic treatment.

Additional definitions of dental and other condition-related terminology can be found in Brighter Hope Foundation’s Glossary of Terms.

Rehabilitation Specialists

Rare disease care is not only about laboratory results and medical imaging. It is also about helping patients move, participate in everyday activities, manage symptoms, and maintain as much independence as possible.

People with ARHR2 and ENPP1 Deficiency may experience bone and joint pain, skeletal deformities, muscle weakness, calcific enthesopathy, stiffness, fatigue, or reduced mobility. Brighter Hope Foundation’s article on living with chronic pain and fatigue in GACI and ARHR2 discusses some of the ways these symptoms can affect daily life.

Depending on the person’s needs, rehabilitation care may involve physical therapy, occupational therapy, physical medicine and rehabilitation, orthopedic care, or specialists in mobility and assistive equipment.

Rehabilitation may focus on strength, flexibility, mobility, daily activities, adapting the home, school, or work environment, recovery following surgery, or finding safe ways to participate in activities despite pain or fatigue.

Because some patients also have bone, joint, or cardiovascular complications, exercise and therapy plans should be individualized in collaboration with the patient’s medical team.

Your Care Team May Change Over Time

One of the challenges of managing a lifelong rare condition is that the specialists you need today may not be the same specialists you need several years from now.

An infant with GACI may initially require especially close cardiovascular monitoring. A child with ENPP1 Deficiency may later require greater attention to phosphate levels, growth, bone health, hearing, dental development, and mobility as manifestations of the condition change with age.

Similarly, adults may experience different bone, joint, mobility, vascular, eye, or other health concerns.

That is why rare disease care is often best thought of as an evolving team rather than a fixed list of doctors.

Families may also want to become familiar with Brighter Hope Foundation’s broader Treatment Options resources so they can stay informed about developments in care and research.

Helping Your Specialists Work as a Team

When several providers are involved, coordination becomes especially important.

Patients and caregivers may find it helpful to keep an updated medical summary containing diagnoses, medications, test results, surgeries, specialists, imaging reports, allergies, and important contact information.

Questions to discuss with your healthcare team may include:

• Who is the main provider coordinating my or my child’s care?
• Which specialists should we see regularly?
• How often should monitoring or testing take place?
• Which symptoms should prompt us to contact a specialist sooner?
• Are our specialists sharing results and treatment plans with one another?
• If an experienced specialist is not available locally, is a remote consultation possible?
• Are there rare disease centers or specialists elsewhere in our country or region who could collaborate with our local doctors?

For rare and complex conditions, it is reasonable to ask healthcare providers to communicate with one another and clarify who is responsible for different aspects of care.

You Do Not Have to Navigate Rare Disease Care Alone

Finding healthcare professionals who understand an extremely rare condition can be challenging, particularly when local doctors have never previously treated someone with GACI, ARHR2, ENPP1 Deficiency, or ABCC6 Deficiency.

Brighter Hope Foundation works to connect affected families with one another and with the medical community while providing educational information and resources. The Foundation’s Medical Advisory Board includes medical professionals and researchers with expertise related to GACI, ARHR2, ENPP1 Deficiency, and ABCC6 Deficiency,.

Families can also explore Brighter Hope Foundation’s Fact Sheets and Leaflets, which include resources in multiple languages, or connect with other affected individuals through the Patient & Family Support Group.

Every patient’s care team will look a little different. The important thing is finding the right combination of expertise for the individual—and making sure the people involved understand not only one symptom or organ system, but the bigger picture of living with a rare, complex condition.

This information is intended for educational purposes and should not replace individualized medical advice. Patients and families should work with their healthcare providers to determine which specialists, testing, treatments, and monitoring are appropriate for their specific diagnosis and medical needs.