Happy 2018 everyone! We wish you all a happy, healthy, and safe new year! January's featured illness is PACS1 Syndrome. This is an extremely rare genetic condition in which the patient has a developmental delay/ intellectual disability and a specific facial appearance which is subtle but recognizable. It can be accompanied by various congenital abnormalities.
So how many people have this? So far, 19 persons have been recognized in medical literature. However, with the increasing use of the latest‘gene sequencing technology, it is expected that many more people will be diagnosed with this condition over the next few years (including adults). that's right, it is THAT rare.
What are the symptoms? The things that these few people have in common include but are not limited to: Seizures Congenital heart defect: atrial septal or ventricular septal defect A low muscle tone (hypotonia), most pronounced at a young age A variety of eye anomalies Oral aversion (reluctance or avoidance of eating/drinking or accepting (specific) sensations in or around the mouth) Behavioural problems (autism spectrum disorder, temper tantrums) These features are not specific for the PACS1 related syndrome. The diagnosis can only be made with a genetic test.
How is it treated, and is there a cure? the answer: There is no known cure for PACS1. It is need of more awareness because these few patients deserve the help just as much as anybody else! The management recommendations that exist today are: A pediatrician should be involved in and coordinate follow-up. Evaluation by a multidisciplinary team can be beneficial (pediatrician, neurologist, speech therapist, dietician). Feeding management & evaluation by dietician, if necessary EEG (measurement of the brain’s electrical activity), if seizures are suspected Brain imaging with MRI, if indicated Eye check by ophthalmologist Consider ultrasound scans of heart and kidneys to exclude structural abnormalities Evaluation for cryptorchidism in boys Treatment for constipation, if necessary.
If you or someone you know has PACS1 know that you are NOT ALONE! There are support groups on social media and people out there battling the same thing. Know that we care and keep fighting H.A.R.D.!