TYPES OF DWARFISM

JACOB  - OPSISMODYSPLASIA

My name is Jacob W. I am 4 years old and have Opsismodysplasia, which is a rare form of dwarfism. At 32 weeks, while in my Mom’s belly,  it was discovered that my long bones were measuring shorter than average. When I was born testing was done and did not seem to match any of the more common types of dwarfism. Through geneticists at Cedars Sinai in Beverly Hills, CA it was determined that I had this nearly unheard of, "one-in-a-million" type of dwarfism.

You see, Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relatively larger head (macrocephaly) with a larger than average soft spot on top of skull (anterior fontanel), and facial characteristic including a prominent brow, depressed nasal bridge, a small nose with tip upturned, and a relatively long vertical groove in the middle area of the upper lip (philtrum). Death secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival.

My Mom and Dad were initially told by doctors at VCU medical center in Virgina that my life span would be 4-5 years and were given no hope of a future with me beyond that. This was almost unbearable to them. God had a different plan, though. I recently celebrated my 4th birthday and I am a healthy little boy. Being 27 inches tall does not slow me down one bit. I am full of life and excitement. I live life as any other little boy does. There are some limitations to what I can do due to my short limbs but I have been finding my own way of getting things done.