Saturday, December 01, 2007

Moving Globe Story on Child with CFC

Today's Globe has this moving story entitled "The Boy in the Moon" (part 1 of 3). The story is written and narrated by Globe reporter Ian Brown. His 11 year-old son, Walker, has CFC, a very rare genetic condition (it is estimated there are around 200-300 people worldwide with CFC). You can learn more about CFC from this web site. Here are a few details about the condition from that site:

What is Cardiofaciocutaneous (CFC) syndrome?
CFC syndrome is a rare genetic condition that typically affects the heart (cardio-), facial features(facio-) and skin (cutaneous). It is seen with equal frequency in males and females and across all ethnic groups. Children with CFC syndrome may have certain features that suggest the diagnosis, such as relatively large head size, down-slanting eyes, sparse eyebrows, curly hair, areas of thickened or scaly skin, and small stature. Most will also have a heart defect. While there is a wide spectrum of severity in CFC syndrome, most individuals will have some degree of learning difficulty and developmental delay. There are several characteristic facial features that are evident in CFC syndrome that may overlap with other conditions, particularly Noonan Syndrome (NS) and Costello Syndrome (CS). Therefore, accurate diagnosis is essential for proper medical management.

What causes CFC?
CFC syndrome is caused by a mutation (change) in one of our genes. Genes are the instructions which tell our body how to develop and function properly. If there is a change in one of our genes, it can affect how the gene is supposed to function and how the body develops. Recently, three different genes have been found to be associated with CFC syndrome (BRAF, MEK1, MEK2). Most individuals with CFC syndrome (87%) have a mutation in the BRAF gene and 13% have a mutation in MEK1/2. Molecular genetic (DNA) testing for mutations in all of these genes is clinically available.

Here is a sample from Ian's story:

The hard part is trying to answer the questions Walker raises in my mind every time I pick him up. What is the value of a life like his — a life lived in the twilight, and often in pain? What is the cost of his life to those around him? "We spend a million dollars to save them," a doctor said to me recently. We were sitting in her office, and she was crying. "But then when they're discharged, we ignore them."

Sometimes, watching him, it's like looking at the moon: You see the face of the man in the moon, but you know there's actually no man there. But if Walker is so insubstantial, why does he feel so important? What is he trying to show me?

To answer that question, I decided to look again at the life he had lived, and the way we had helped him live it — first at home, later in a special community for children like him. I climbed into a car and drove across the continent to meet other children with his syndrome.

All I really want to know is what goes on inside his off-shaped head, in his jumped-up heart. But every time I ask, he somehow persuades me to look into my own.