What is Smith-Magenis Syndrome?
The medical definition defines it as an interstitial or partial deletion of chromosome 17p11.2. It is a chromosomal disorder recognized by physical, behavioral and developmental characteristics.
In a nut shell, Ben's chromosome make-up has a small piece of genetic material missing from chromosome 17. From what researchers can tell, this happens at conception and is a sporadic event. There are only about 600 people in the world diagnosed with Smith-Magenis Syndrome at this time.
To get a complete list of characteristics, please visit the PRISMS (Parents and Researchers Interested in Smith-Magenis Syndrome) website at www.prisms.org
4 Paws 4 Ben
Characteristics of SMS that Ben has:
- Severe sleep disturbances (reversed circadian rhythm), night terrors
- Self injurious behaviors (head butting, punches self) several times a day
- Low muscle tone, slow to develop physically, still doesn't speak too well, uses sign language as main form of communication
- Developmentally delayed
- Hearing impaired, attends the school for the deaf
- ASD (Heart Murmur)
- Severe constipation
- Frequent aspiration, leads to bronchitis and pneumonia, chokes easily
- Low Immune system
- Possible HNPP, Nerve disorder
- Chronic ear infections (3 sets of tubes and Mastoidectomy)
- Delayed toileting skills, still wears diapers
- Exceptional memory
- Extremely affectionate with everyone he meets
- Great sense of humor
Due to all the different medical issues, these are the specialists we work with:
- Pediatrician
- Otolaryngologist (ENT)
- Sleep Specialist
- Pulmonologist
- Cardiologist
- Gastroenterologist
- Neurologist
- Geneticist
- Opthamologist
- Psychologist
- Psychiatrist
- Behaviorist
- Occupational Therapist
- Physical Therapist
- Speech Therapist
