The conditions in the PIK3CA-related overgrowth spectrum (PROS) can affect many parts of the body. Some of the syndromes are obvious when a baby is born, while others don’t appear right away. Some get worse as a child gets older, while others don’t change much.
Because PROS is so complex, you’ll probably meet with lots of doctors who are specialists in different fields. They will work together to figure out the best treatment plan for your child’s specific form of PROS. Some of their focuses will overlap, which will help them approach your child’s syndrome from multiple angles.
Neurologists, or brain and nervous system experts, will look for treatments that can help with seizures, trouble with the senses, and problems with movement caused by some forms of PROS. If your child’s condition affects their brain, spinal cord, or other nerve tissue, neurologists will be a big part of your child’s care team.
Cardiologists, or heart experts, will play an important role in your child’s treatment if the condition affects their blood vessels. They might look for treatments that involve lifestyle changes, medications, surgery, or other therapies.
Nephrologists. If your child has kidney problems, which are common with many forms of PROS, you’ll talk with a kidney expert. They may help your child manage their blood pressure if it’s too high, which can make kidney issues worse. They may also recommend dialysis or a kidney transplant.
Orthopedists specialize in fixing and preventing problems with the body’s structure, specifically the bones. Your child will see an orthopedist if they have the spine condition scoliosis, legs of different lengths, fingers or toes that are longer than usual, or any other overgrowth of their skeleton.
Ophthalmologists, or eye doctors, can help your child handle vision problems that might be caused by overgrowth in their brain or around their eyes.
An ear, nose, and throat (ENT) doctor. If your child’s form of PROS involves too much growth of tissues in their face or neck, or if it makes it hard for them to swallow, this specialist could play an important role in your care team.
Dermatologists specialize in diseases that affect the skin. Some forms of PROS, including CLOVES syndrome, can cause patches of overgrown skin that can range from smooth to rough, yellowish and oily to red and scaly, and tiny to very large. A dermatologist will help manage these symptoms and recommend the best way to care for them.
Surgeons. If your child’s care team decides that surgery is the best option, you’ll likely meet with a surgeon. This could be a neurosurgeon who operates on children with epilepsy, a dermatologist who can remove skin lesions, or a thoracic surgeon who can treat fatty tissue overgrowth in the “trunk” of the body.
Cognitive therapists. If your child’s form of PROS involves the brain, they may have some degree of intellectual disability. Whether this is mild or severe, a cognitive therapist can help them find ways to progress and live with challenges in their learning, behavior, speech, or movement.
Speech therapists. Whether your child has trouble with speech because of an intellectual disability or a physical one, a speech therapist, also called a speech language pathologist, can help them learn ways to communicate better with the people around them. They can also help with cognitive issues, social interaction, and trouble swallowing.
Physical therapists will talk with you and your child about their daily activity and form a specially tailored treatment plan. The goal will be to ease pain and swelling, and to improve movement. This might involve massage, hot or cold techniques, and special exercises.
Genetic disease and cancer experts. PROS causes cells to grow and divide faster than normal. In some cases, this could raise the risk of cancer. Because cancer is also a genetic disease, genetics experts can help your child’s care team understand this risk. Your care team will work together to keep an eye out for tumors. Genetic experts can also help pinpoint the cause of your child’s condition and make recommendations for their care.
Depending on your child’s specific form of PROS, you may need to meet with your special group of experts regularly, all the way through puberty. Regular checkups are important so that your child’s care team can keep an eye out for complications caused by too much tissue growth. How often you see each specialist will depend largely on your child’s individual condition. Ask your doctors about how often you will see each of them, for how long, and what their goals are.
Where to Find Specialists
You can find specialists through your child’s regular doctor, but also through advocacy groups, clinical trials, medical journals, universities, specialist hospitals, and medical conferences. Start by talking with your primary doctor for guidance. The earlier you can team up with specialists, the better off your child will be in the long run.