Trick or Treat!

Well we took Maisie out for tricker treating this year. We went down one side of the block and back up, she used her walker and had a blast chasing me! After getting tired we put her into the wagon. She had her first candy ever! She LOVED the kit kats and ate 2 of them :) Sugar high??? She was a butterfly, her Grammy Lynn bought it for her. She is getting so darn tall and big that it barley fit! We had to compromise and wear different leggings.

We turned in our 24 hour EEG on Sunday and waiting to hear back from Noran Neurology. On Wednesday we have her IFSP meeting and hear about the results from her latest testing.

Let's try it again! 24 hour EEG

We are at it again! Maisie was fitted today with her electrodes. We will be following her and seeing if we can detect any blank stares that could be possible seizures. We also picked up Maisie's new glasses today!! This evening Maisie had a blast crawling up onto the couch and snuggling with her two Weimaraner dogs Emma and Maddie. In Maddie's age she doesn't put up with Maisie as well as Emma does :) Today at PT her long term sub Brian had her on a tricycle with her feet taped. I guess she pedalled a couple of times! Kari her SLP also stated yesterday that since we went back to a tube and suction cup as a stopper that her lip closure is getting better (again). Today Maisie was very vocal and we heard lots of great babbling.

Another 24 hour EEG

Today after talking with the Nurse and her hearing my frustration Maisie will be having another 24 hour EEG, which will not be charged to our insurance due to the tech giving me misinformation!! Maisie will get her head fitted with probes on Friday at 3pm and I will return on Sunday. I don't know if they will really get anymore or different results from me pressing a trigger. I am not an expert on seizures so I am not sure if when she stares off it's a seizure or if it is her taking more time to process.
Tonight we carved pumpkins and Maisie had a blast feeling the inside "guts" :-)

EEG and other updates

This morning I had my blood sugar test at 7:15 am and PASSED!
This afternoon I had a couple of phone calls.
First was from the sleep clinic checking on Maisie and her new prescription. They have put her on a controlled substance (I forget the name) to help keep her down during the middle of the night. Andy and I took precautions and were only giving her 1/2 the dose at night time and 1/2 in the middle of the night. I think we are going to have to try giving her the entire dose to see how long it will keep her down. She has been getting up around 6am instead of staying asleep.
The next was a text message from daycare informing me that Maisie had a BM that exploded so bad that it was running down her leg, into her shoes and all over the floor! YUCK! No fever and as happy as can be (really?) wow!
I received a phone call from Noran Neurology and they had told me they found some unusual activity in her 24 hour EEG. The nurse asked why I didn't hit the trigger button!!! I replied the tech guy Peter said he barried it far into her backpack so I wouldn't be able to reach it but to write down the times and that would give them the same information. So this is what I did. The nurse said she had to call me back. After waiting 2 hours I called back and she said that the Dr. wanted to do a 24 hour EEG with video monitoring. Which would mean that I would go in with Maisie for 24 hours into a room that would record us for 24 hours and she would be rewired up to the EEG. Really a 2 year old that doesn't watch TV and has the shortest attention span in a confined room with nothing that she knows! All because the tech barried the damn trigger in the backpack to deep for me to use! WOW! She doesn't sleep in her own room through the night you really think it is going to go well in a strange environment? Seriously??  Needless to say I am NOT happy. She was going to speak with the Neuro and get back to me tomorrow to see what our nexts steps are. I am wondering why the Neuro can't give me more information on what they noticed and what he thinks is going on. I told the nurse I wrote things down when I noticed a change in normal activity. I probably wrote down way to much or not enough... I am not an expert of what a seizure looks like.

Spoke with Maisie's ECSE teacher and she was happy that Maisie was pretend playing with giving Elmo a drink of water and offered her one as well!! I love hearing when she does something new :-) Each little thing is growth!

24 Hour EEG

WOW What a week... weekend

On Wednesday I had my first hormonal break down. Maisie was having a really rough night and was cranky which is not like her at all! Andy had been gone since Tuesday morning. I sat in Maisie's room holding and rocking her trying to calm her and wondering what in the world I was doing bringing another baby into this world when Maisie needs me so much. How can I give baby #2 attention when Maisie needs me? Hours later I texted Andy and he responded with... Honey. Of course we are. Maisie will have a life long companion... and I sat in bed crying again! You gotta love pregnancy hormones right?

Thursday we have OT and Speech from 9 am- 10:45. Then we were off to see the eye doctor because Maisie's eyes were beginning to wander. I was concerned with her prescription since it would be one year for her check up in December. I was also wondering if it was because of the lack of sleep she had been getting. We (my mother in law and I) arrived at 1:30 and left at 4:15! That's a long time with a 2 year old. Great news her prescription didn't change!

Friday- We had PT at 8 am then we headed to Glasses Menagerie in Minneapolis. We found a really cute pair of Lafont glasses.  She currently has Lafont glasses and broke them on Tuesday. We then went to the Noran Neurology for her 24 hour EEG! Good thing Grammy Lynn was with because WOW that's a lot of probes they put on! We were watching for dazed looks (seizures).

Saturday- It took me 40 minutes to get all the probes out! There was glue, clay, and gauze all over the place! Poor girl was screaming when I removed the tape from her chest and back :( 

In the mean time Grammy and I worked on painting the baby's nursery. It's almost complete.
I was glad to go back to work today... it seemed like less work.

The story... the journey medically related

• Maisie qualified for SPED services in our school district under the Bayley III Cognitive Subtest 4/21/10. The cognitive score 5th percentile, Social 50th percentile, Communication 6th percentile, Adaptive 2nd percentile. 
• 5/17/2010- Eye doctor found a fairly high degree of hyperopin and astigmatism in each eye. She began wearing glasses for farsightedness. The doctor told me that when she is on my hip, she can't see my face. 

• 5/17/2010- Our pediatric doctor recommended seeing a Neurologist.
• 8/2010- Neuro states global developmental delays involving language as well as motor skills on a central basis. Ordered a MRI, Sleep deprived EEG, and obtained blood work for CBC, metabolic panel, plasma amino acids, thyroid functions, lactate, CGH, and methylation studies for Angelman Syndrome. 
• MRI showed- mild delay in myelination, mild prominence of the extrexiel fluid spaces over the cerebral convexities, structurally normal appearance of the brain.
• Sleep deprived EEG-  mild to moderate abnormal waking, mild to moderate degree of diffuse cerebral dysfunction. 
• All blood work came back normal!
• In the summer (2010) we added speech therapy and OT at a clinical setting. Once school started and I went back to work we dropped OT and kept speech. After we hit our max out of pocket for the year we added more therapies. We added OT in March 2 times and week and PT 1 time a week. We kept speech 2 times a week for a total of 5 therapy sessions plus the school district 1 time a week!
• October 2010 Maisie got tubes in her ears due to many ear infections. 
• February 2011 Maisie got her adenoids removed. Obviously we were seeing an ENT during this last year as well. We were concerned about her hearing and saw and audiologist as well. 
• In May (5/2011) we decided to seek out a Developmental Pediatric doctor. This was after speaking to a parent at an Early Childhood Special Education night. This is what the doctor found- Global developmental delays with significant hypotonia.
• Genetic Clinic 5/31/11 Maisie was 22 months old and they decided to do a workup for the UBE3A sequencing through the University of Chicago. They looked for Carbohydrate-deficient trnasferrin, UBE3A, and fragile X which are all genetically carried on. At this time I was about 3 weeks pregnant!
• After there was a red flag in the UBE3A sequencing Andy and I were tested to see if we were carriers
• Results!!! FINALLY an answer- UBE3A sequencing revealed a novel genetic change of c.1745_1747delCTT (not exactly sure! I was told she was missing 3 letters and not an entire chapter) corresponding to a three- base pair deletion and leading to the loss of a serine amino acid residue. Although this has not been described in previous patients, it was deemed similar to other genetic changes that cause the condition. Parental testing revealed that the change was de novo (began with Maisie, not carried by one of us). Which dropped the recurrence rate significantly for our baby on the way!