Living With PIK3CA-Related Overgrowth Spectrum (PROS)

Medically Reviewed by Nayana Ambardekar, MD on March 19, 2024
Written by Susan Bernstein
4 min read

If your child has been diagnosed with a PIK3CA-related overgrowth spectrum (PROS) disease, what can you expect in daily life?

These rare diseases, caused by a mutation in the PIK3CA gene, can cause a wide variety of symptoms. Sometimes, they affect how a child moves, eats, talks, learns, and develops. Some people have only mild symptoms. Others have more severe disease that causes problems in day-to-day life.

No matter what, you can find support from your child’s health care team or other families living with the condition.

Children are born with a PROS disease. They’re often diagnosed as babies because that’s when they first have symptoms.

Poor muscle tone can make it hard for some babies to eat or swallow. They may be slower to sit up and move around on their own than other kids.  Depending on the specific PROS condition they have, some children may have delayed learning, but others learn and develop at the same rate as kids without their condition.

PROS diseases may make it hard for some kids to eat and swallow foods. They may have a tough time getting enough nutrition to stay healthy.

A nutritionist can work with you to create a plan that can help your child stay at a healthy weight. With nutritional counseling and support, children with PROS conditions will often get to a healthy weight.

Some children or teens with a PROS disease may have a hard time walking or moving around because of loose or unstable joints, uneven leg lengths, large or unusually shaped feet, or an overgrowth of tissues.

Children often learn to adapt to their changing bodies so they can walk, play, sit at the kitchen table, or climb stairs. Sometimes, surgeries to remove extra tissue can make it easier to move.

Working with a physical therapist or occupational therapist can also help a child or teen adapt their movements to do more tasks at home or school, like grasp a pen or click their computer mouse.

Some children may benefit from mobility aids or assistive devices to help them walk or move around, like a:

  • Cane
  • Walker
  • Brace or splint
  • Wheelchair

If they have weakness or overgrown tissue in their hands and fingers, assistive devices may help them grip or grasp items like a cup.

Some kids with PROS diseases may have very wide or large feet or toes. Some children need foot surgeries to remove overgrown toes or remove extra tissue. Finding shoes that fit may be a challenge.

Try larger shoes or sandals that can be adapted to fit your child’s feet as they change. Some kids may want to walk or play barefoot or in just their socks.

If a child’s legs are different lengths, a shoe lift may help them even out the difference so they can move more easily.

Children or teens who have hand mobility problems may want to wear clothes that pull on and off easily, such as T-shirts, pullovers, and elastic-waist pants. Skip tops or pants that have zippers or buttons that may be a struggle for them to fasten on their own.

PROS diseases sometimes cause intellectual or developmental delays, as well as speech or hearing impairment. Some children benefit from speech therapy, physical therapy, occupational therapy, or special education at their school.

Some children or teens have an individualized education plan (IEP) or 504 Plan. These are legal documents that describe the accommodations a child needs from their public school so they can get the education they need. You can work with the school principal, teachers, and other administrators to talk about what your child needs and who will be responsible for addressing those concerns. IEP and 504 plans can be updated each school year.

Life with a long-term, genetic illness can be challenging and stressful at times, including for parents and other caregivers of children with a condition. It’s normal to feel overwhelmed, sad, angry, or anxious at times. It’s important for you and your child to care for your mental health, just as you would take care of any physical concerns about their condition.

A licensed social worker or psychologist can help you find ways to handle the stress and other emotions that come with your child’s condition. It also helps to connect with other families who are also living with a PROS condition. Ask your care team to connect you with some, or explore online communities for these conditions.