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Update 7-15-07
View Koray's first day of school video July -07
Update 5-20-07
Koray's
first steps video...
He will be like Forrest Gump:)
Update 2-27-07
Today first time, our son Koray stood. (Click
for video) This was a dream for us . Thank you very much for your support
. We will not forget you .
Update 12-18-06
Kutlay's orthopedic surgery operation date is this Monday. UCSF Orthopedic
Surgeon Dr. Delgado said that Kutlay's operation will be just one hour and
after two months he will walk with assistance. We are very happy. This is
my dream and I believe that everything will be ok . :)) We are praying to
God and we are hopeful for Kutlay .
Kerim
Koray in his upright
stander:
 
- - - -
 We came USA seven months ago for my son's treatment to Lucile Packard
Children Hospital of Stanford University. We still stay in Santa
Clara, California. We don't want to return to Turkey because my son's multidisiplinary treatments not available in Turkey.
My son is unbalanced type trisomy 13-15 translocation patient...
His defects ASD (Repaired)
Cleft Palate (Not Repaired)
Microcephaly
We are feeding with PEG tube (He have got swallow defect)
Pes Echinovarus foots
etc...
We need a support for my son's treatments.
H e was born 01.01.2003 and weight 2450 gr .His genotype is unbalanced
translocation 46 XY der(15) t(15;13)(q14;q26).Clinic paterns;cleft
palate,Heart ASD(7.8-Ostium Secundum type),VSD(9.1-musculer type),GER,PEG
tube feeding,Left foot pes echinovarus,gastrointestinal system enzym
defects,mental-motor retardation,tonic-clonic konvulsions....
In our country Turkey, daily calorie intake for our baby is calculated
based on 100 cc feed per kg, but we thought that this would not be enough
for his energy metabolism because of the enzyme defects and ensured that he
takes 150 cc/kg. One and a half years ago, we were feeding him by means of a nasogastric tube that we placed and removed 8 times a day, now we give him
16 feeds (90 cc formula + soup, every 11/2 hours) by means of a gastrostomy
feeding tube surgically placed into the stomach through the abdominal wall
(a PEG tube). But, we have now difficulty in feeding him more since he has
gastroesophageal reflux problem and due to aspiration of the reflux material
he has hard times. We are afraid that something bad could happen when we
feed him during his sleep and we know that he has to undergo Nissen
fundoplication procedure for his condition.
He has also frequent infections and every time he has been given
cephalosporins and other beta-lactam antibiotics. Many antibiotics we use do
not have the expected efficacy and cultures have shown that most bacteria
have become resistant to those antibiotics, therefore we have begun to use
antibiotics such as meropeneme, vancomycine, teichoic acid, etc, however we
are aware that we can not use these powerful antibiotics for a simple otitis
media infection.
For his convulsive episodes Na valproate, primidone and oxcarbamazepine were
prescribed, but we have noticed that our child become worse when we use the
three drugs concomittantly. So, instead of a combination therapy, we have
looked for ways to switch to an effective monotherapy and at last a
pediatric neurologist, who thinks the same way, changed the triple
combination therapy for a controlled Na valproat monotherapy. He still has
convulsions, but he much better. he was admitted to hospital for
thrombocytopenia and elevated liver enzymes two times during the past year
and we are worried about the future.
For his cardiac defects, our son underwent a successful operation last year
in Istanbul. His VSD was repaired, development of Eisenmenger syndrome was
prevented and he was virtually born again. He is now receiving digoxin 12
drops/day. Within a year after the operation, has 2 supraventricular
tachycardia (SVT) episodes that was treated by iv adenosine administration.
He has also right bundle branch block, but all these were predicted. His
heart is may be the best functioning organ in his body now (never mentioning
the 4 cardiac arrests occuring until he is 1.5 years old...).
He has undescended testicles and he has some painful episodes during the
last four months. A child surgeon we have consulted meanwhile told us that
this pain results from the descension of the left testicle, but both
testicles are not still descended to scrotal bag and something must be done
about this.
A s to the neuromuscular structure, the upper extremeties are in a good
condition and he can hold things with his finger, he can do the movements he
like, although not all of them, with his arms and hands (he has still a
limited spastic muscular structure). Interestingly, his lower extremities
are in a condition like spasticity. He can not yet walk, but try to take
some steps; he can not talk, but can say "anne, mama, baba" (mother, feed,
father); he can sit with some support, and has a mental and motor
development to allow him watch TV. We are aware of the fact that he needs a
program in a rehabilitation center.
Lastly but may be most importantly, he has a cleft in the soft palate
situated just above the uvula in the middle of palatoglossus muscle which
forms the non-neurological component of his swallowing defect. We could not
have him operated due to his inadequate body weight. However, he needs an
urgent intervention by a plastic surgeon and we have some information that
his body weight might not be a problem.
In summary,
1. His cleft palate must be repaired by means of a microscopic surgical
procedure.
2. His undescended testicles might cause malignities and they must be
brought into the scrotum immediately.
3. Besides the alginic acid medication for his gastroesophageal reflux, we
feed him according to the capacity of his stomach.
4. Taking into account the current state of medical conditions in USA and
your experience about our son's disease, I think that you might have some
significant and vital contributions to his condition.
5. Many physicians in my country say that they unfortunately have no idea
about our son's condition and state that there won't be much benefit in
doing interventions, so they can not help us for the necessary procedures.
In your country, there must be many patients like my son and some
multidisciplinary treatment centers that have the necessary facilities and
experienced academical staff.
Kerim Koray Kebir
e-mail address: babykutlay@yahoo.com
Please Click Videos and Photos in website.../www.koraykebir.com
- - - - HISTORY - - -
KORAY
KUTLAY KEBIR
Koray was born at 01.01.2003 in Elazig/ TURKEY with a chromosome defect
which is an unbalanced translocation 46 XY der(15) t(15;13) q(14;26)
according to a summary of his medical history. Koray is 3-year-10-month-old
male with a complicated medical history including Partial Trisomy 13, Status
Post VSD repair, Microcephaly, Developmental delay, Seizures, Cleft palate,
and G-tube placement, and Equines Contractures on bilateral feet, and
Undescended Testicles.
BIRTH HISTORY:
Koray was born full term via cesarean section delivery. Parents report that
mom had calcifications in her placenta that was noted one week prior to
delivery. After delivery he stayed in the NICU for about six weeks.
According to our genetics note, it states that Koray’s father was the only
doctor in the delivery room, and that his son suffered cardiopulmonary
arrest shortly after birth and required CPR for approximately two minutes.
He also had reported that there was no intubations or resuscitation drugs
used. Dad also noted that symmetric growth retardation was noted for
approximately the last two months prior to delivery. Koray also had
approximately four cardiopulmonary arrests over the last three years of
life. Dad also reports that after he was born they did chromosome Karyotype
FISH testing, and he was positive for partial trisomy 13.
CLINIC:
1- Trisomy 13 variant, Patau Syndrome
2- VSD status post repair. Right Branch Block
3- Seizures disorder, Epilepsy .
4- Developmental delay.
5- Although this is diagnosed per the syndrome, father reports that Koray
has no brain dysfunction.
6- Minimal Gastroesophageal reflux. The patient had used on Gaviscon
only. He has tried Zantac, but that interfered with valproic acid and was
stopped.
7- Undescended testicles, unrepaired.
8- Cleft Palate (In soft palate )
9- Bilateral equines contractures and bilateral Clubfeet .
10- Hyper muscle tone in both upper extremities and lower extremities.
DEVELOPMENT:
Parents report that Koray does roll over. They are not sure exactly how many
months he was when he started doing that. He sits up with support, which he
started doing at 21 months of age. He said his first word at 1-1/2 years of
age. Currently, he has about three words. He is trying to crawl and is able
to pull himself with his arms; however, he is not coordinated enough in his
legs to crawl. He is also unable to bear weight on his extremities and walk
or pull to stand because of his deformities in his feet. He grabs objects
with bilateral hands. He does not show any preference in his upper
extremities. Parents feel that he is reactive to noises. He dos not always
turn when they call his name, but he does react to noises and makes eye
contact. He follows things around the room, especially toys that light up.
He has never had a thorough hearing or vision evaluation. He is currently
not potty trained. He does not take any foods by mouth. He is mainly G-tube
fed.
PAST MEDICAL HISTORY INCLUDES:
Koray has a very complicated medical history.
1- He has had multiple surgeries in the past including G-tube placement at
11 months of age and having a G-tube replacement surgery at 23 months of
age. And Last G-Tube replacement having at 46 months, August 24th 2006 in
LPCH of Stanford University. ( Totally Three times )
2- History of a VSD repaired in Istanbul at age of 20 months. He previously
had SVT controlled on
digoxin, which has recently been discontinued.
3- History of seizures disorder with microcephaly, seizures currently
controlled on valproic acid
alone .
4- Cleft palate, which is soft palate central, has never been repaired .
5- He has bilateral undescended testicles .
6- History of equines contractures on bilateral feet. They are considering
an Achilles release with bilateral casting .
MEDICATIONS:
1- Depakene, 350 mg p.o. daily
2- Digoxin, he receives 12 drops a day, six drops in the morning and six
drops in the p.m. As
stated, this is approximately 30 mg a day total.
ALLERGIES:
There is a questionable allergy to Alprazolam and Dilantin, and Midazolam,
and he develops tachycardia and pulmonary hypertension.
REWIEV OF SYSTEMS:
On examinations today, the patient is obviously developmentally delayed. His
head circumference is 44.5 cm. He does have purposeful movements, however,
is unable to communicate with spoken word. He otherwise appears to be
contact. He has a healed sternotomy incision. Examinations of his lower
extremities demonstrates bilateral equines contractures. We can passively
dorsiflex him to -10 degrees of neutral. His forefoot feels supple. His feet
are well perfused. He is able to move his ankles and his toes. Hips and
knees are not contracted.
PHYSICAL EXAMINATION:
VITAL SIGNS: Weight 12.5 kg, height 88 cm, head circumference 44.8 cm, which
is about 2.5 to 3 Standard deviations below the mean for his age. Blood
pressure and heart rate not approximately taken.
GENERAL : Koray was awake and alert during the visit. He was dressed
approximately He is sleeping well. He is not taking any food by mouth. He is
G-tube dependent.
SKIN: Positive for multiple varicose lesions on his hands and scabs on his
forehead.
HEAD/NECK : Supple, microcephalic. Cleft Palate.
CARDIOVASCULAR: Rate and rhythm regular. Positive for status post VSD
repair.
RESPIRATORY: Clear to auscultation bilaterally.
ABDOMEN: Soft and nontender. G-tube was intact. Parents were feeding him
through part of the
visit.
ENT: Hearing not evaluated.
CURRENT PROBLEMS :
1 ) NEUROLOGY :
He was alert and oriented X three. Throughout parts of the visit he was
agitated and was consoled by his parents. He did not use any words during
the visit. He did cry. He had a social smile and appeared to react to his
parents’ voices. However, he did not fix and follow objects shown to him.
His pupils were equal and reactive bilaterally. No nystagmus was noted . We
were unable to do an optic disk exam. His eyes were slightly bilaterally
downslanting.
EEG is abnormal.
Independent bitemporal spikes are present. Polyspike and wave activity with
a diffuse distribution over the bilateral hemispheres and a posterior
maximum predominance are also present. The presence of focal spikes
indicates that there is an increase risk for partial and secondarily
generalized seizures. The presence of generalized discharges indicates that
there is a statistically increased risk for generalized from onset seizures.
Today he first started having seizures at 6 months of age. They believe his
seizures are generalized tonic-clonic myoclonic seizures. They last anywhere
from 3 to 30 seconds each. The duration of the seizures is not very long;
however they are very frequent. He experiences three seizures types.
The first seizure type always happens in his sleep. He wakes up while he is
sleeping and with a “startle” puts his arms out, bilateral hands, and some
finger movements, then he goes back to sleep. These episodes last about 3-5
seconds each.
His second seizure type includes the eyes rolling back and bilateral arm
stiffening. They are not sure about his lower extremities secondary to him
being very spastic in the lower extremities. These episodes also last 3-5
seconds. This seizure type is usually the most common seizure type; however,
over the last two days he has had more of the third-type seizures.
His third seizure type occurs when he is very happy or very angry. His
bilateral arms become stiff, he has claw-like hands, and his hands open and
close. There is some tremor/possible convulsions associated in upper
extremities. There has been a recent increase in the frequency of these
episodes. His second- and third-type seizures never occur in his sleep. The
parents feel that after his seizures he usually goes back to what he was
doing. He does not have a long postictal period with being sleepy and very
tired. His seizures occur every day, approximately 10 seizures per hour.
Also, after his seizures there is a question of increase in drooling.
In terms of his anti-seizure medication, Koray was treated between 12 and 19
months of age. With Trileptal, and for one month’s duration he was on a
combination of Trileptal and Mysoline medication. At 19 months of age he was
switched to Depakene, and he had significant improvement in the frequency of
his seizures after he was switched to Depakene. However, he continues to
have frequent daily seizures.
MOTOR : His hands appear very small. He had palmar creases. There were
single transverse creases bilaterally. He had increased tone in the lower
extremities and was very stiff and spastic bilaterally. His tone in the
upper extremities appeared normal. He was not able to sit by himself and
was supported throughout the visit. He was agitated, and we could not see if
he was able to bear weight on his lower extremities. His sensation to light
touch was normal. He did not make eye contact throughout the visit.
REFLEXES: +2/4 bilateral upper extremity reflexes. He had brisk +3/4
bilateral lower extremity Reflexes. We were unable to get Achilles reflexes
secondary to his orthopedic anomaly. We were able to observe three of his
type-I seizures, which appeared like myoclonic in his sleep. Also, we
observed 1-2 episodes of his second type of seizures during the visit while
he was awake.
2 ) ORTHOPEDIC : Positive for bilateral equines contractures on bilateral
feet and spasticity. But he grabs objects with bilateral hands. He does not
show any preference in his upper extremities.
3 ) GENITOURINARY: Koray has been evaluated at Turkey for the undescended
testicles. Per dad’s report, he had an ultrasound done six months ago in
turkey and was found to have intraabdominal testes bilaterally.
Unfortunately, dad was not able to bring the films with him today or the
report. Otherwise, Koray has not had any other workup done for his kidneys
or bladder despite the various issues he has systemically and throughout his
other systems.
4 ) GASTROINTESTINAL: Positive for minimal reflux. His parents work with
his feeding regimen. They prevent him being constipated. He has had multiple
surgeries in the past including G-tube placement at 11 months of age and
having a G-tube replacement surgery at 23 months of age. And Last G-Tube
replacement having at 46 months, August 24, 2006 in LPCH of Stanford
University. ( Totally Three times )
5) ENT : Audiology test report :
Koray presented to be a difficult-to-test child. Today’s test results were
not a threshold test. With the help of a test assistant, using BOA in the
sound field and via bone conduction, no consistent responses were observed
to soft or moderate levels. Startle responses were observed to bone at a
moderate level and also at 70 dBHL to 250 dBHL in the sound field. Koray
also startled to his father’s voice at 70-80 dB HL in the sound field. BOA
responses to speech stimuli was observed at 40 dB through bone conduction (
Koray lifted his head). He has very often
Tympanometry was abnormal bilaterally (no peak compliance, flat tympanograms).
IMPRESSIONS:
1- Can not rule out a hearing loss at this time.
2- Flat tympanograms bilaterally.
SOCIAL HISTORY:
The family lives in Turkey. Mother is a teacher in Turkey and is 27 years
old. Dad is 29 years old and a Emergency Service Physician in Turkey. They
come here in order to get further medical care for their son who has
multiple medical issues.
Kerim Koray KEBIR, MD
Koray’s Father
FEEDING :
Koray’s Vegetable Soap + Formula = Daily Caloric Intake= 480 ml soap+ 920 ml Calorie
Tomato 2 pieces 28
Green Bean 50 gram 45
Broccoli 100 gram 35
Zucchini 1 piece (100 gram ) 25
Flour 120 gram 35
Potato 2 pieces ( middle) 200
Spinach 150 gram 39
Bulghur 15-20 gram 40
Pasta 100 gram 85 OR 339
G.Vermicelli 100 gram 120
Lentil 10 gram 31
Rice 100 gram 125 OR 357
Stew Beef 100 gram 280
Butter (Unsalted) 60 gram 428
Salt ( 1 Tsp)
Soap 4*120 ml=480 ml--------------------------------485 cal ----1.01
cal/ml
1500 ml cooking Isoosmolar
JFK 8*115 ml= 920 ml---660 ml water-----------1380 cal----1.5 cal/ml
Hyperosmolar
TOTAL 1400 ml-----------------------------------------1865 cal----155
cal/kg
Just for kids : 237 ml / 335 cal. 170 ml / 237 ml water
Protein % 11
Carbohydrate . % 44
Lipid % 45
870 ml jfk = 1305 cal enough for all day
Kerim Koray KEBIR, MD
koraykebir@yahoo.com
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Translation
Ironman
for Kids - The Living with Trisomy 13 Community thanks Michael
Hennessey for helping to raise awareness for Trisomy 13 and other
related disorders. 
