Author Archives: hcps-grandprhh

Living with Cri-du-chat

Living with Cri-du-chat
By Matthew Sasser and Harrison Grandpre

My child, John, was diagnosed with Cri-du-chat as a baby, 13 years ago.  He has never lived his life without this disorder, so he does not know what it is like to live a normal life.
My husband and I thought something was wrong with our child when he started emitting high-pitched sounds, similar to that of a cat.  He was also unusually small at birth, and his eyes were positioned at a downward slant.
We were worried, so we went  back to the hospital.  The doctors ran a FISH-metaphase test, which determined that our child had cri-du-chat. The FISH-Metaphase test is used to identify specific chromosomes through the attachment of fluorescently-labeled DNA probes which denatures chromosomal DNA. This means that this can determine if you have an extra chromosome or a missing chromosome, which in this case John did.  The test detected a missing part on the fifth chromosome.

I had never heard of the disease before, and was devastated when I heard the symptoms.  Intellectual disabilities, partial webbing of the hands and toes, slow motor skills, and wide-set eyes. Some other symptoms are heart defects, muscular and skeletal problems, hearing or sight problems and difficulty with talking or walking.  These were problems that were going to affect John for the rest of his life.  It was unknown at the time whether he could later care for himself.  That depended on the impact of his intellectual disabilities, and we are still not sure about his future.

I also discovered that there is no treatment, only therapy for his motor skills.  The doctor told us that many with cri-du-chat can eventually learn verbal skills and communicate effectively. However, this is not easy to accomplish.  Surgical correction would be necessary for his cardiac area late in his life.  Genetic testing was another possibility we could use on our child.  There is a 6 to 8% mortality rate for cri-du-chat.

His whole life will be affected by this disease.  For more information on Cri-du-chat go to, www.genome.gov/19517558.