This Boy Named Ashton

There is a little boy named Ashton. Ashton has a syndrome call Cardio-Facio-Cutaneous Syndrome (CFC). He is one of an estimated 100 individuals reported in the literature. It is estimated that there are perhaps 200-300 individuals worldwide, 15 of which are residing in Canada. Ashton is the only male diagnosed with CFC in British Columbia. Ashton is my son.

Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder first described in 1986, CFC is characterized by a distinctive facial appearance, heart defects, and mental retardation. There is no cure for Cardiofaciocutaneous syndrome.

Ashton was born a month premature, despite his surprise arrival, Ashton appeared to be “normal’ weighing in at 7lbs. Life with Ashton those first few months was that like any other new baby, except one difference, Ashton didn’t seem to be gaining any weight and his tummy was always puffed out like a balloon.
Concerned of this, his mother and I took him up for a check-up at the doctor’s. We went into the exam room, sat down and waited. The doctor entered, we explained that we were concerned about his tummy and that his weight gain was low. After a quick exam, the doctor sat down and delivered a sentence that changed my family’s life and would confirm all those parental instincts the wife and I had been having.
She said, “The tummy was enlarged likely from gas. However, there is something that concerns me more, his head”
as my stomach sank, she continued,
“Ashton’s head size is high above the rest of his growth on the chart-much higher”
And with that, it began. That doctor referred us, on that day to have a C.A.T. Scan (Computerized Axial Tomography) at BC Children’s Hospital.

In the four years since that first test, that first step, the fist time Ashton changed from new baby to special little boy. Ashton has had countless test, from simple Blood Tests to heart wrenching Lumbar Punctures (spinal taps). Test after test, appointment after appointment all came back with the same results – normal.
Normal, how can a little boy who won’t eat, can’t move, can’t talk, wakes up every hour crying and has distinct facial features be “normal”?.
This is the question that we asked over and over again as the list of specialties grew from family physician to include GastroIntestinal, Neurology, Endocrine, Medical Investigation, Medical Genetics and UBC Genetics Research to name a few. This was also the question asked by the doctors at Children’s Hospital.

Without any medical proof that something was wrong, and syndrome after syndrome being ruled out as a possible cause for reason why my son, my little guy was “different”, why I was given such a gift, the puzzle became harder. It seemed as though we may never find that piece, that one piece that would give us a key. A key to unlock ones life, to give reason and bring clarity, to find an answer to what was wrong and how this would affect Ashton’s life and that of those who love and care for him.


The Doctors and Nurses at BC Children’s Hospital together with the support of UBC’s Research Department never gave up the search for the “missing piece”
When one test would come back with the all to familiar “normal” The Genetics Department would submit to the Government of Canada for approval of funds to send my son’s blood, along with the hopes and prayers of family, to the best equipped DNA labs throughout North America. They were determined to solve this mystery and finally…they DID!

On March 27, 2007, what began with a trip to the Doctor for a gassy tummy ended with a phone call. A phone called that changed my life and began a new hope. A new hope for a boy named Ashton.

The phone range, my wife answered, on the other end was Tracy (our UBC/Children's support worker) she shared with my wife that a test had come back and that test was POSITIVE. Positive for CFC.
That 10min. phone call was, to date, the happiest, most fulfilling, most energetic, most defining 10 min of our lives. As we cheered, and paraded my son around the living room like the winning scorer at the big collage football game, it ended.
No longer would we be searching for an answer, no longer would this special little boy be a mystery.

Ashton is four now and making progress everyday. He works with a team of Therapists and he is now able to sit by himself, he has some speaking ability, but communicates well (in his own way) with those around him, he can feed himself and is a great big brother to his younger brother and baby sister.

My family is very fortunate to live in this spectacular province, not only for the beautiful scenery and booming economy but also for a much greater reason, BC’s Children Hospital. It has been through the support and expertise at Children’s Hospital that we have come this far.
They have been there from that first step; they have and will be there each step after.

Ashton is hoped to walk one day and will soon begin integration into the school system.

As for Children’s Hospital, we have just begin on a new journey, one of learning more about this Syndrome called CFC and the people that live with it. As new technology is assessable and tests found, we will continue to build on the life long relationship between my family, this great medical institution devoted to care and livelihood of our kids - BC Children’s Hospital and this boy, this boy named Ashton.

Shaun Nagy