What is Costello syndrome?

In theory

Costello syndrome is something you are born with and cannot be healed from. The syndrome is caused by a genetic anomaly. It is a very rare condition, only 400 people around the world have this diagnosis. In The Netherlands we only know of 4 other people who also have a child with Costello syndrome.

People with this syndrome tend to have developmental delays and often have a heart condition. Growth is delayed as well as mental development: people stay smaller and have cognitive disabilities in varying degrees. Also part of Costello are certain physical traits such as loose skin with deep skin folds and typical facial features such as a wide mouth, low ears and a flat, wide nose. Children with Costello syndrome experience difficulty with learning to eat, talk and walk. Almost all people with this syndrome will receive their nutrition via a tube for the first couple of years of their lives. Babies with Costello syndrome are often extremely sensitive to stimuli and cry often. They usually develop a friendly demeanor.

Costello syndrome causes many health problems. Regular screenings and treatments are necessary. These health problems can be:

  • heart problems
  • skeletal anomalies and orthopedic problems
  • loose or narrow trachea
  • reflux
  • eye conditions such as cross-eye, walleye or jerky eye movements
  • greater chance of epileptic seizures
  • greater chance of tumors and certain forms of cancers and developing benign papillomas
  • greater chance of Chiari malformation type 1

What causes Costello syndrome?

As described above, the syndrome is caused by a genetic anomaly. In this anomaly a mutation occurred in a gene called HRAS. A gene is a piece of DNA that is part of your chromosome and contains information. The HRAS-gene holds the information that regulates cell division and cell growth. The protein that is involved in this is deregulated in people with Costello syndrome. The mutation is spontaneous and has no known cause. Vera has the G12C mutation, which is relatively rare among people with Costello syndrome.

Our experience

Vera has a lot of these characteristics and medical issues, but luckily some not (yet). Ever since she was born her heart has been of major concern (very irregular heartbeat, too many impulses in the heart) and has needed the most attention. A defibrilator has been used twice to get her heart beating in the right rhythm again. Her heart remains a concern, but with the use of several medications is now relatively stable and manageable. Vera battled severe edema in the first few weeks after she was born and also had inexplicable fluid buildup behind her lungs (chylothorax). A drain was used to get rid of the fluid. Vera also has the deep skin folds that all children with Costello syndrome have. This requires extra care for her skin. Due to not being able to swallow, Vera continues to receive her nutrition through a feeding tube as she has her whole life. As of August 2013 she has started swallowing small amounts of saliva or apple sauce. Many children learn to swallow by the time they turn 4 and can start eating. Vera uses medication for her stomach and esophagus and has undergone various examinations and tests in this area. Her respiratory system remains of concern, she has been in the intensive care unit of several hospitals, sometimes even at great speed by ambulance when her breathing was extremely labored and Vera became exhausted. At home we have a special humidifier to administer medication when she is having trouble breathing. Since September 2013 there are also issues with her digestive system, but no solution or diagnosis has been made as of yet. Whether this is related to Costello syndrome is not known yet.
Vera has always been a difficult sleeper and never sleeps through the night. Often not even an hour without crying. From other parents we hear that many children with Costello syndrome have this sleeping pattern.

Fortunately, we are in touch with many parents worldwide through a closed facebook group and a special e-mail list server. We exchange experiences and tips, ask questions and keep each other posted on developments or share pictures. This is of great help, even for our doctors because we can gather information about this rare condition, such as medications used, different research methods etc.

Every two years the international Costello syndrome conference takes place in the United States (along with two other related disorders that share the same gene mutation in the RAS-gene: CFS and Noonan syndrome) as well as a European gathering in Great Britain. We attended this last one with our family and will write another blog post about this at a later time.

More information and some (scientific) papers