Pedro

[Giovanni Widmer, Betsy Simmons]

This is a translation of a message broadcast earlier today through this
listserver. I translated it to the best of my knowledge from the original
portuguese version hoping that someone out there might be able to help. If
you have any useful info please contact the family directly at the address
below. If needed, I am willing to further assist with translation.
Giovanni Widmer [gwidmer at infonet.tufts.edu]

"Please read this entire message:
Pedro is our 1st and only child. He was born on 4/3/89; we were 26 and 31
years old. We very much wanted him and loved him from the beginning.
Pregnancy was normal, delivery was by C section because by his due date
(3/31) there was no sign of progress. Pedro's delivery went very well; he
cried shortly after delivery and his APGAR score was 9. He measured 48cm and
his weight was 3.43 kg. His first year was excellent, his development was
perfect and he had no diseases. He could sit at 5 months, he walked with 7
months and his vocal development was normal.

As he was 14 mths old, one afternoon, while he was napping, Pedro woke up,
as if scared, as if he was chocking.  This happened a few more days and
eventually we went to see a physician. The physician, who witnessed an
episode, suspected a gastro-oesophagean reflux and ordered a few exams. At
that time, these episodes occurred aprox. 10 times a day and lasted for
about 15 seconds.

As the tests did not reveal anything, following the doctor's advice, we went
to see a neurologist for children, who diagnosed convulsion. An
encephalogram was performed and found to be normal. A neurological exam was
also normal.

At that time, the episodes increased in frequency and intensity. Therefor,
in August 1990 he was admitted in intensive care for the first time.
Episodes were occurring approx. every 3 minutes.  He remained at the
hospital for 20 dys, and when released his episodes were less severe. A
computerized tomography was performed and was found to be normal. A second
electroencephalogram revealed a focus of irritation on the right side of the
brain. In spite of all this his development was normal, eventhough he
appeared more lethargic. The episodes continued. In october 1990 we noticed
that he smiled less and cried less. when he smiled, the left side of his
face seemed paralized. In November 1990 I noticed that he used less his left
arm. The physicians called this sequels. In December 1990 a magnetic
resonance of the brain was performed, as well as an eye exam and other tests
to detect metabolic disorders. All results were normal. 

At this time he already showed difficulty in walking and spoke less.  The
episodes occurred at a frequency of about 20/day. In a period of 7 months we
saw several physicians and various anticonvulsants were tested. However the
outcome was not completely satisfactory and he was admitted twice more to
control his symptoms.  In January 1991 Pedro was admited once more and when
released he no longer could walk, talk or sit. In February, again intense
episodes and admitted for 20 days. Each episode lasted about one minute and
occurred about every 10 minutes. He was treated with cortison and several
metabolic exams were performed but nothing was found. His motor skills were
further diminished. When released from hospital he couldn't sit, did not
appear to recognize anybody and did not appear to look at anything. Time
went by, and with much physiotherapy and love a slight improvement was
achieved. Our "marathon" continued, more doctors and tests, but nothing
changed.  His episodes were less intense, they occurred only during sleep,
about 8 times/night with a duration of about one minute. At the end of 1995
he had several days without episodes.  He had several pulmonary infections
and took antibiotics. Towards the end of 1995, Pedro could again control his
head movement and had more strength in his body. He started to look at
people and objects, however did not attempt to grab things. His face showed
more expression, eventhough he still did not laugh or cry.
In January 1996 a magnetic resonance was again performed which showed
identical results as the previous; according to the physician, within normal
parameters, but according to his present physician his brain was slightly
less dense than normally seen in 7 year old children. Another
electroencephalogram was performed, which was significantly better than the
previous, but showed localized foci in the right frontal area. A karyotype
was also performed (mom, dad and son) but nothing was found. A physician
suggested the possibility of a mitochondiral abnormality and suggested a DNA
analysis. A blood amino acid analysis, hematography and urine sugar analysis
was also performed.
Currently, Pedro has convulsive crises about 4 times during his sleep,
mainly in the early morning hours. During these episodes he streches his
arms and legs, turns his head towards the left side and cries. Each episode
lasts ~ 45 secs. He continues to focus on people and objects but does not
move spontaneously. He again has a reasonable control of his body, but
doesn't sit, doesn't stand, doesn't talk, laugh nor cry.  In the last 2
years he developed scoliosis. He is currently being treated with Rivotril,
Valpakine and Tryleptal. Pedro is now 9 years old.

During all these years we have had no explanation of what is happening to
Pedro. We also haven't met anyone with similar symptoms to share our
experience. If you can help, if you are a physician, or if you know a child
with similar problems, please write us. Otherwise, please forward this
message so it may reach the right person.

Thank you.

Liane and Manoel
Mailing address:
Rua Conselheiro Brotero 1559, apto. 134
CEP 01232.011 Sao Paulo, SP, BRAZIL"