'Jamie'
Jamie
was born January 31, 1991 in Tulsa, Oklahoma. When born,
doctors could not determine a reason for his medical condition, so we
were sent to a chromosome expert who found our son was missing a piece
of the number one chromosome. More specifically, he was
diagnosed as being 1q-43 deletion, which means he was missing all
chromosome material below the 43rd band on the bottom portion of the
number one chromosome. Due to the rarity of his medical
condition (one of just 24 known cases in the world), information was
very sparce, and what little information was available, not all of it
was written in English.
A doctor came in from Duke to look into his rare condition.
His pediatric intensive care doctor presented his case to a
group of doctors from around the United States. He truely had
a rare condition which intrigued a lot of folks in the medical field.
Several specialists were brought in, including neuro, cardio, ......
Our pediatric cardiologist warned us early on, "He probably
won't live into his second decade," which meant much past the age of
ten. Sure enough, Jamie died on April 11, 2001 at the age of
10 (that doctor was pretty good).
We discovered Unique early
on, which is a support group for parents with child who have rare
chromosome disorders. Since the organization is in the United
Kingdom, we mostly relied on the group's newletter for information.