Wednesday, September 7, 2016

2016 Scientific Symposium Two Sides of a Coin: Deletions and Duplications on 15q



Finally got a  hold of the  2016 Scientific Symposium (click for link) Two Sides of a Coin: Deletions and Duplications on 15q.  Dr. Shefali Jeste's presentation had a snippet of Lucas during a clinical trial study (at point 36:00).  It is amazing how far he has come in the last two years.  Looking back, he wasn't even able to sit on his own without support. He still has hypotonia and poor gait but has improved a lot since then.  He also did not have any seizures back then. For the last 40 days, he has had one day of seizure which I think is pretty good compared to daily seizure activity for five months straight. Hoping this trend lasts for a long time.  







The above video presentation by Dr. Thiebert worries me a bit about possible seizures occurring during sleep in the night.  Although waking hour seizures are under control for L, I have no idea what is happening during sleep in the night.  He does occasionally wake up in the middle of the night but tends to go back to sleep on his own within 30 minutes to an hour.  Do seizures wake him up?  Seizures in the day time had the opposite effect wherein he would fall asleep for an average of 1 hour, post ictal.  An overnight EEG sounds like  a good thing to do.  Our neurologist hasn't gotten back to me about stopping keppra.  I am assuming no response is a good response as he usually got back to me almost immediately when things were getting worse.  

 We are going in for another similar study mid September at UCLA with Dr. Jeste.  

Thursday, September 1, 2016

First Week of Kindergarten. New School. New Teacher.

New school.  New Teacher.   The kindergarten teacher at the new school who had been teaching for over 30 years just retired this year and we have a new teacher who has never taught special needs kindergarten before.  She said she has only taught second graders.  She seems a bit confused and nervous.  I asked for a class schedule and was told she hasn't made one yet... This is the second week of school.  She seems awfully worried about Luki's safety and insists on him having his helmet and knee pads on at all times.  I told her I want him to feel a bit more independent and not so restricted. They can get itchy sometimes and I don't want him having a meltdown due to discomfort.  We compromised by him wearing them on the playground only and not in the classroom. He has been having a tough time adjusting to kindergarten (crying at separation).  The new school time is 2 hours earlier than his PreK and early morning is the most vulnerable time for seizures, which doesn't help.  One time, the school nurse even called me to pick him up due to non-stop crying for 2 hours.
The new teacher and staff seem a bit baffled by Luki so I wrote up a little care plan and information  to help the teacher and aide feel less anxious and worried about him and to better understand his needs.  Hopefully, this helps.  


A little information about Lucas 

Lucas has a rare genetic condition called Dup15q syndrome which causes developmental delays, poor gait, speech delays and autism.  Here is a description of his condition:

Sensory issues: He has sensory seeking behaviors like rubbing his hand against the carpet or different textures. His chew toy necklace helps me calm down and feel safe. And, he uses it quite often.
Motor issues: poor motor planning, ambulatory with unsteady gait, hypotonia.
Therapies he receives:   physical, occupational, and speech therapy at school twice a week,
Special Diet:. Soft, easily digestible foods. Has difficulty chewing hard foods such as carrots, candy; learning to bite into a whole apple.   Needs assist with meals. Can use a sippy cup but not an open cup.  Needs practice putting cup down without spilling. Can use spoon once food is on the spoon but unable to scoop food independently. 
Medical conditions: Propensity for seizures; irregular EEG patterns.  His seizures have been controlled for the past month but we keep an extra close eye on him in the morning right after he wakes up which is when his seizures happen the most.  He has never had seizures in the afternoons or after about 10AM.  We are on a modified schedule in the mornings where he will be dropped off between the hours of 8AM to 9AM – depending on how he is doing upon awakening. 
Verbal: NO
Ambulatory: YES with supervision especially in the playground.  He loves to climb on top of things at home.
Dysphagic: NO
Emotional disturbances:  NO, very mellow personality but experiences high anxiety in unfamiliar places and situations.  He gets very scared and anxious at the sound of leave blowers, lawn mowers and vacuum cleaners. 

Favorite Food:  not a picky eater, eats almost all foods well as long as it is soft and easily digestible. He likes hot dogs, hamburgers, French fries, burritos, rice and beans, cut up apples, oranges, blueberries, grapes. We try to limit his intake of sweets (candy, cakes, sugary drinks) due to seizure risk.
Favorite toy: Scout, the talking dog. Toys that light up and make music.
Favorite DVD/tv shows: Baby Einstein videos, Preschool Prep learning DVDs, My Talking Toddler videos, Any children’s program with bright lights and lots of music. In pre-K, his favorite time was circle time when everyone sang songs. 

Special equipments:
Lucas does not wear leg braces; he sometimes wears knee pads just in case in falls on his knees but is not a necessity.  He wears glasses.  He wears a helmet which helps him to keep his glasses on. Otherwise, he likes to fling his glasses off. He likes to take his shoes off, too. Usually, he wears high tops. On very hot days, we try not to keep the helmet on too long. 

Goals:
1.We would like Lucas to gain as much independence as possible.  In preK, the teacher felt he did not need a 1:1 but one may be helpful for safety. 
2.We would like him to improve more in his hand – eye coordination like placing tokens in piggy banks, puzzles, using utensils to eat.
3.He is incontinent of urine and stool.  Potty training is a big goal we have in place.