Our second child and first daughter, Ariana, was born on August 18, 2012. After what seemed a long run in NICU (one day is too long with an infant in intensive care, let alone three weeks), we were discharged on September 5, 2012 and thought we were going home with simply a very severe caes of reflux. Ariana had been tested for everything under the sun while in the hospital, including infection, heart conditions, kidney failure, etc. At only 4 weeks old, a geneticist called us at home to tell us something that would change our world. Ariana was diagnosed with an extremely rare chromosomal disorder called Smith-Magenis Syndrome (SMS). A microarray test ordered by the geneticist on the very last day she was in NICU determined that Ari is missing a piece of genetic material from chromosome 17, referred to as a small deletion. A very distinct pattern of physical and behavioral characteristics are associated with SMS - here are just a few:
Major Physical Features (75%+ of affected individuals):
- facial appearance -
flattened mid-face, downturned mouth, prominent rosy cheeks, etc.
- oral-sensory motor
dysfunction flattened mid-face, downturned mouth, prominent rosy cheeks, etc.
- poor suck/swallow, decreased tongue strength and movement, etc.
- middle ear problems
- chronic ear infections
- short fingers and toes
- decreased sensitivity to pain
- and the list goes on
Major Developmental and Behavioral Features (75%+ of affected individuals):
- developmental delay
- variable level of mental retardation (mild to moderate)
- generalized lethargy (infancy)
- sleep disturbance (chronic)
- frequent nighttime awakenings, early morning awake times, increased daytime sleepiness
- inverted circadian rhythm (chronic)
- speech delay
- maladaptive behaviors
- hyperactivity, impulsivity, attention seeking, sudden mood shifts, explosive outbursts, prolonged tantrums, aggressive or destructive behavior, etc.
- self-injurious behaviors
- head banging, hand biting, picking at skin, pulling off nails, inserting objects into body orifices
- and the list goes on
Common Features (50-75% of individuals):
- hearing impairment
- short stature
- scoliosis
- vision impairment
- constipation
- abnormal EEG
- and the list goes on
Less Common Features (25-50% of individuals):
- congenital heart defects / murmurs
- lowered immune function
- seizures
- thyroid function abnormalities
- and the list goes on
Characteristics During Infancy:
- happy disposition
- infrequent crying
- low muscle tone
- feeding problems
- delayed gross and fine motor skills
- and the list goes on
Although SMS is caused by a deletion of genetic material, it is not hereditary. This deletion occurs accidentally and spontaneously during conception, without it being inherited by either parent. It is a super rare chromosomal defect - with only 600 reported cases worldwide. In fact, it is considered a "sneaky" syndrome that doesn't truly begin showing symptoms until toddlerhood - and even then, kids are most often misdiagnosed with other developmental delays and learning disabilities because they are facially very "normal" and no one is alerted to perform genetic testing. It's typically much later in life when kids are diagnosed because their physicalities only then begin to change. Individuals with SMS are often dual diagnosed (or most commonly misdiagnosed) with AD/HD, ADD, OCD, ODD, etc. Despite all their mental and medical challenges, life expectancy for SMS individuals is seemingly the same as that of a typically developing person at 80 years or so.
If you'd like to learn more about SMS, a website worth reading is PRISMS - Parents and Researchers Interested in SMS. Still, because of the rarity of the syndrome, most of Ari's particular symptoms and variability of such are largely unknown at this time.
After receiving this diagnosis, my family began the journey of our new normal.
