11-year-old white male patient brought in by mother and father who confirm with
Documentation, he was diagnosed at age five with Sanfilippo Syndrome Type A.
PARENTS INFORMED: He requires total assistance with daily living
skills…i.e.: bathing, dressing, and
hand feed him. Tony only sleeps about 3 hours per night; Tony will sit up and
bounce on his bed or wander about in his bedroom at night, and will frequently
bang on his bedroom window and does hurt him self. At night his head is not
protected from injury because he cannot wear his helmet at night due to the strap
could choke him. He requires nighttime supervision, because he does fall out of
bed many times, parents are currently using pillow props to stop him from rolling
out of bed because his safety is an issue, and his parents are waiting for a special
enclosed bed from The Vail Company. He gets low blood sugar readings into the
range of forties, which requires some ingestion of a sugar-based product. He
currently attends public school and is in the fifth grade, Multti-Varing
Exceptionalities, level four programs. Mom states, “They use fm system at school
for his hearing problem.”
RECORDS SHOW: Allergy alert to Zithromax. Test results confirm he has low
blood sugar reading of
76. She assisted him in drinking orange juice from a sipper cup that a toddler
would use.
He is also severely deaf in both ears from having lots of ear infections and due to
his disease; he was prescribed hearing aids and currently uses them. Deafness is
contributed to the impaired sensory signal that goes from the ear to the brain that
is reported to be about three second delay.
He has slight hip dyplasia, which is progressively getting worse due to
degenerativeness of disorder.
PHYSICAL EXAM/OBSERVATION: He is currently walking inward and on his
toes, which I have seen him, trip over his own two feet in the course of this visit. .
He is wearing customized kneepads to stop injuries to his knees due to falling,
and also is wearing leg rotation straps to help assist in rotating his legs to the
normal position. He shows obvious neurologically impairments, and acts more as
if he is about between 18 months to three years old by being unaware of certain
things like walking in to doors, walls, furniture, and what ever is in his way and
does not seem to have the ability to judge distance and bangs on everything that is
within his reach including faces. He wears a hard-shelled helmet with a face guard
on it during the day to stop head injuries, and face injuries. I notice an observe
while mom changes diaper he also is incontinent and wears special diapers, and
needs hypoallergenic wipes and creams to stop major skin rashes from occurring.
Mom states, “because of the Stevens Johnson’s episode he now has extremely
sensitive skin to the sun and soap products, which requires him to use special soap
to prevent skin break down. “He drools and chews on his fingers excessively and
wears a bib. This child does not talk he vocalizes unrecognizable babbles, whines
and utterances but mom seems to communicate with him in there own little way
by eye contact and lip reading.
This consultation lasted 1½ hours long.
Theresa Hinkelman R.N.
