Dane was diagnosed with 22q13 deletion syndrome in May, 2004.  What follows is a description of Dane’s medical history, a brief summary of the 22q13 deletion syndrome, and his current list of doctors. Finally, there is a list of features associated with 22q13 deletion syndrome (which I have developed from several sources) and a note indicating whether or not Dane has these features.

Daniel (“Dane”) Basher was born at 36 weeks, 6 days gestation. Pregnancy diet was followed enthusiastically. At approximately 36 weeks, 3 days an external version was attempted to turn Dane from his Frank Breech position. 

Two days after the failed external version, I went into labor.  That morning I was administered “brethine” (I believe was the term) as contractions were occurring every few minutes.  The labor pains reduced in frequency, occurring about every 20 mins at which point I was sent home.  After about 5-6 hours, the frequency returned.  Dane was delivered that evening at 36 weeks, 6 days gestation, via C-section.  Dane was sent to NICU for approximately one hour due to low blood sugar. Very early in the hospital it was apparent he had a weak suck reflex.  He had trouble getting more than 2-3 ml of milk down (breast milk). In the first few months, I can recall documenting how much breastmilk and formula Dane could take at one feeding. We fed him with a small tube taped to our finger, so we could stimulate his palate, and at about 1 month switched to bottle.  I can remember counting the number of ml he was able to take in, beginning with 3-4 per feeding and it seems we stopped record-keeping when he started taking several ounces at a time.  In his first few months of life, he saw a gastroentorologist and was diagnosed with immature digestive system.  At that point, we switched to soy formula because of reflux, constipation, and gassiness.  Dane used enulose for first year of life to treat constipation.  An inpatient reflux test was also conducted.  Dane was diagnosed with a mild reflux problem, borderline-high normal (my recollection was 5%). Dane also had jaundice for what seems like a long time.

At 6 months of age Dane was referred to a neurosurgeon, Dr. John Myseros at Cincinnati’s Children’s Hospital, for possible hydrocephalus.  Dane was diagnosed with possible communicating hydrocephalus.  It was recommended that we closely follow this, and hold off on surgery unless needed.  From the age of 6 months until age 3, the CSF distributed over Dane’s brain began to collect on his left frontal lobe.  At age 3 Dane had surgery to remove the arachnoid cyst from his left frontal lobe.  Just prior to his surgery, a similar fluid-filled cyst seemed to be developing on his right temporal lobe. As of the last CT scan (March, 2004; Dane age 4 1/2) the right temporal lobe issue remains unchanged—it’s size remains the same and relatively small.  There is still a small amount of fluid remaining on Dane’s left frontal lobe and the brain tissue seems to have filled in the previous “hole.”  Dr. Myseros suggests this remaining fluid is just the result of the skull being a bit larger than the brain; fluid fills in the extra space.  Another CT scan will be scheduled for March, 2005, as a follow-up.

At 13 months of age, Dane was diagnosed with hypotonic cerebral palsy, by Dr. Nancy Lanphear at the Cincinnati Center for Developmental Disabilities.  At that time, blood and urine analyses were conducted as well as a behavioral assessment.  We now know that this was a reasonable, but wrong diagnosis.

At approximately 2 ½ years of age, Dane had his first seizure, as a result of a high fever.  The next day he had another seizure.  Initially, Dane was diagnosed with febrile seizures.  However, several months later he began to have absence seizures (Dane’s eyes squint and flutter for 1-2 secs).  (NOTE:  see latest diagnosis at end of paragraph).  Since that time Dane has several 1 – 1 ½ hour EEGs, revealing seizures in the parietal and temporal lobes (my recollection).  His diagnosis is complex partial seizures, with the clonic-tonic seizures, resulting from fever, being secondary generalized.  However, December 2003 Dane had an unexplained drastic increase in seizure activity, lasting about one week.  (He was taking Omnicef for a sinus infection at the time).  Dane was currently on his third seizure medication.  Trileptal worked initially, but the dosage was gradually increased as needed, until he reached the maximum dose he could take.  He was then switched to Lamictal, to which he had an allergic reaction.  He was then switched to Topamax.  Dane started with a low dosage and it has been gradually increasing as Dane is still having several absence seizures per day.  As the medications did not appear to be working, we had an extended-stay, video-monitored EEG completed in March, 2004. The results:  Dane's brain wave activity is not completely normal, and this is the case all of the time. His EEG shows periodic spikes in certain areas of the brain (in roughly the areas where his left frontal cyst was putting pressure on the brain:  right frontal and left temporal). According to Dr. Holder, neurology, the abnormal activity just means he's had brain damage, which we already knew.  The rapid eye fluttering that he does is not seizure activity.  We don't know what it is.  Dane's brain wave activity doesn't change when he has his brief, rapid eye fluttering spells.  They speculate that it could be due to tics or self-stimulating behavior. So trying to treat this with seizure medicine is not useful. Per Dr. Schapiro, neurology, is that we weaned Dane off of his seizure medications (finished weaning May, 2004).  In addition to the EEG results, another impetus for taking Dane off seizure medications was that Dane had regressed since August 2003, when he first began taking Topamax.  We were concerned that the regression may be due to side effects associated with Topamax.   Dane will continue to have Diastat on hand for his clonic-tonic seizures, which he usually gets only with onset of fever. As of May 15, 2004, Dane no longer takes seizure medications.

Dane also started taking Zyrtec, for allergies, in January 2004 (age 4 ½ years).  He now sleeps much better.

Dane experienced chronic ear infections for the first few years of life, has had several sets of PE tubes, and in May, 2003 had his adenoids removed.  He also has had two cases of pneumonia.

Dane’s vision was checked in Summer, 2003.  Dane is non-verbal and does not always attend to verbal prompts, therefore, his vision test was based on the doctor’s examination of Dane’s eyes (via refractory light?).  Dane was not cooperative.  The doctor’s estimate was that Dane’s vision seemed okay, but asked us to come back in a year, when Dane will hopefully be more cooperative.

Dane was also unable to complete a standard hearing examination.  An auditory brainstem response evaluation revealed no problems.

Dane had a hip x-ray in May, 2004.  This x-ray revealed that his right hip is 50% uncovered and his left hip is 20% uncovered. In asking the doctor what this means, he said that 100% uncovered is dislocation, and Dane’s hip is on its way to such a state, which will most likely require hip surgery at some time in the future.

Features of 22q13 Deletion Syndrome:

  Hypotonia (weak, floppy muscles; Dane)
developmental delay (Dane)
speech difficulties (Dane)
macrocephaly (big head; Dane)
seizures (Dane has)
Ptosis (droopy eyelids; not Dane)
Epicanthal folds (we think Dane has)
high arched palate (we think Dane has)
dolicocephaly (don’t know)
lymphedema (don’t know)
mild dilation of cerebral ventricles (Dane has)
dysplastic ears (low set, large ears: may have)
delay in gross motor milestones (Dane has)
normal or accelerated growth (normal growth for Dane)
mild facial dysmorphic features (wide set eyes/large bridge of nose)
downslanting palpebral fisuures
simian crease (Dane does not have)
sacral dimple (Dane has)
long eyelashes (Dane has, but so does his dad)
recurrent ear infections (Dane had until PE tubes)
2-3 syndactyly of toes (Dane has, but so does mom’s family)
fifth finger clinodactyly (Dane may have)
increased tolerance to pain (Dane has)
chewing behaviors (Dane has)
arachnoid cyst (Dane had)
abnormal toenail growth (Dane has on both big toes)
tendency to overheat (we think Dane has)
large hands (Dane may have)

  On a non-medical note, here is a little information about Dane as a person.  He is loving, easy-going, and has a wonderful laugh and smile. He loves action:  videos, computer games, sports on television, Wheel of Fortune and American Idol.  He also looks to read books.  He jabbers a lot (vowel sounds only) when he is having quiet time in the afternoon or in bed at nighttime.  He likes riding in the car and listening to music.  He loves walking in the grocery store (in his Rifton gait trainer). He likes watching his friends play at daycare.  He loves praise and clapping.  He is an incredible little boy!

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Notes for My New Teachers and Therapists

From Dane:  September 2003

Since I am not yet able to speak for myself, I put these notes together for you…

My parents want me to grow up with a positive attitude, so please don’t tell my friends I can’t walk or talk or do other things.  Instead, please tell them I need help doing these things and I am still learning how to do these things. If they ask why I need help, you are welcome to tell them that I had some damage to my brain when I was a baby and it makes it harder to learn these things. 

My walker is not a toy, but I know new friends always think it’s cool and want to check it out.  Perhaps they could “play” with a few times when I’m not in it. That is, let them see how I use it and tell them I need it to help me walk.  Then they could see it’s really no big deal.

 (Please don’t let my friends play with my talker.  It is my only voice and can easily breakdown.  If this happens, it has to be shipped to New York for repair.  I know my friends find it fascinating, but I’d appreciate it if you can think of a nice way to let them know that it is not a toy.)   I am also still learning how to use my talker.  You may need to help me find the right square sometimes.

I love songs.  Please sing me songs, especially ones with hand movements.  Sometimes I like to watch the hand movements, and sometimes I like for you to help me with the hand movements (hand over hand). Right now some of my favorites are itsy bitsy spider, hickory dickory dock, walking through the jungle, twinkle, twinkle little star, 5 little peas in a peapod, and wheels on the bus.  If you need to know the words or hand movements, ask my mom.  I’d also like to learn new songs with hand movements.

I generally don’t like to do lots of other things with my hands though.  This is something I know I need to do more of.  So please try to get me to do new things with my hands, even if it is just for 5-10 secs.  For example, I don’t like to hold crayons and markers to draw, but at least hold my hand to help me draw a circle or a line.  Maybe if I do this enough, I’ll start to like it more.

Please help me learn lots of self-help skills.  I’m starting to like getting my hands washed, but you may have to push my hands under the water to get me used to it.  I help my mom and dad clean dishes sometimes.  They put the dish on my tray and help me hold the dishbrush to scrub.  Then please clap lots. I also will help my parents wipe off my tray if they help me move the washcloth round and round.

When putting on my shirt, please put the shirt partially over my head, then I can usually help you pull it down to my neck.  I can also help by putting my arms through my sleeves.  If you could help me learn other parts of getting dressed, that would be great.  I used to like to help put my leg braces on, but I’m bored with that now.

My physical therapist at Perlman is helping me learn how to get into my walker by myself.  Now she can put me in backwards and with her help, I can turn around the correct direction.  She’s also helping me learn how to pull myself up to the walker, but that is really, really hard right now.

I really respond to well to praise and clapping.  And I love people who are happy and smile a lot.

Sometimes I like to sit on the floor and roll a ball back and forth, or push a car.  I know how to do this at home, but I don’t often understand how to do things with new cars or toys.  You may have to show me how and help me lots of times before I understand and can do it by myself.

I love books.  Please read me lots of books.  I can turn the pages myself, if you get the next page ready to turn by lifting it up a bit for me. 

Now I only use a spoon for breakfast when I eat cereal (I prefer to use my left hand).  My parents help me hold the spoon.  They can show you how to do it.  I need to start learning to use my silverware more often, so please help me with this. 

This summer I also learned a new trick.  We went on a picnic and Mom forgot my sippy cup lids.  I actually took some sips from the cup without the lid on, while Mom held the cup.  My parents were so proud of me 

When I’m doing something I really like, you can have me stand or kneel  (you have to help me though because I easily fall).  I need lots of practice doing this.  At home, I will sometimes stand while watching TV or playing on the computer.  I stand behind a table and hold on with both hands, and with someone watching/supporting from behind. 

Because I sometimes can still fall over when I’m sitting, please don’t leave me on a hard floor without something behind me to pad my fall.  I had brain surgery in Sept, 2002 and I have a plate in my head.  Because of this, always make sure my bike helmet is on securely and level on my head in case I fall when I’m riding my tricycle. 

I also need to work on finger isolation.  Please help me to work on this.  My mom will sometimes isolate my finger to point at pictures in a book.  I don’t like this, but I guess I should keep working on it. 

Also help me to be useful in the school.  For example, at home when we are about to go through a door, my parents will ask me to help open/close the door and I will help by putting my hand on the door knob.  I also can help with turning out the lights.

Please lay me down after lunch so I can have a brief rest before my parents pick me up for my afternoon therapies at Perlman Monday – Thursday.   I like to lay on my cot and jabber and laugh.  This is also the time when I usually have a bowel movement, because I am relaxed. 

That’s it!  Thanks.