Sunday, December 11, 2011

Meeting another Angel

Wow! What a weekend!
On Friday night Maisie went to her first University of MN Gopher Wrestling Match of the season. It was just Maisie and I. We met some friends for dinner (Haselius family) and Maisie enjoyed playing with Hillary which is in the second grade. Saturday we went to Vivian's first birthday in Minneapolis. Sunday (today) we met another Angel. Maisie met Maddy. It was so great for me to connect with another family who knows what it's like to be a parent of an Angel. Maddy and Maisie are very close in age in fact they are both July babies! Maddy has a wonderful laugh and smile. She made me look at Maisie in a different light. I am very thankful for Gina and Chris and their knowledge and trying times they shared with me. We discussed therapies, schools, next steps and goals for our girls. My hopes are to keep in touch with them and get the girls together. I wish Andy would have been able to join us at the MN Zoo today, but he is out in Vail skiing.

Monday, December 5, 2011

Maisie is walking!


It has been so long since we posted last!
Well a lot has happend :)
  • On January 3rd Maisie will be starting a Pre-K SPED program. She will attend 3 days a week in the afternoons! It will be crazy to put my 30 month baby on the bus, wow I don't even want to think about it. 
  • Maisie is making great gains in her eating. Her SLP asked what we want to work on next. I am thinking we should tackle drinking out of a cup or maybe using silverware (which may be more OT) 
  • This weekend Maisie took over 20 steps! I am surprised I didn't just start bawling right then and there. This is a huge milestone for her at 29 months. I am so proud of her! Matter of fact I am very proud of her daddy also. If it wasn't for him she wouldn't be able to attend 5 therapy sessions a week and make such great progress. 
  • Maisie had two 24 hour EEG's within a week back in October. Great news is that she is not having any seizures. 
  • I don't know how Maisie will handle her baby sister arriving by January 18th.

Monday, October 31, 2011

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.

Friday, October 28, 2011

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.

Wednesday, October 26, 2011

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" :-)

Tuesday, October 25, 2011

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!

Monday, October 24, 2011

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.

Wednesday, October 19, 2011

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!

Tuesday, October 18, 2011

Welcome! All about Angelman and Maisie.

Angelman Syndrome is described as a rare nervous system disorder usually misdiagnosed as either Cerebral Palsy or Autism. Developmental Delay is evident by 6-12 months of age. There are several types of Angelman Syndrome all require a degree in genetics to understand! I will do my best to explain Maisie's. Maisie had a sequence analysis of the UBE3A gene, she demonstrated a three base pair deletion in exon 11 that results in the deletion of a serine amino acid residue. This sequence error not appear to have been previously described in patients with Angelman syndrome and has also not been described as a known as a benign sequence change in the UBE3A gene. The parental testing of my husband and I revealed that neither of us are carriers of the Angelman Syndrome. Which is great because we are 6 months pregnant and Maisie is going to be a big sister!

What is chromosome 15?
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 15, one copy inherited from each parent, form one of the pairs. Chromosome 15 spans about 100 million base pairs (the building blocks of DNA) and represents more than 3 percent of the total DNA in cells.

Can Angelman syndrome be inherited?
Most cases of Angelman syndrome are not inherited, particularly those caused by a deletion in the maternal chromosome 15 or by paternal uniparental disomy (2copies from dad). These genetic changes occur as random events during the formation of reproductive cells or in early fetal development. Affected people typically have no history of the disorder in their family.
Rarely, a genetic change responsible for Angelman syndrome can be inherited. For example, it is possible for a mutation in the UBE3A gene or in the nearby DNA region that controls gene activation to be passed from one generation to the next.

Who am I?
My name is Mindy and I am the proud mother and advocate of Maisie. A little background information. I am a teacher and worked in the primary grade levels. My husband Andy is an insurance agent. We were married for 5 years when Maisie arrived on the 4th of July, 2009. I had a c-section due to estimated size. I was due on July 14th with a planned c-section on July 6th. My water broke shortly after 1 am on the 4th of July to my surprise. When Maisie arrived her blood sugars were very low (hypoglycemic). Maisie spent her first four days of life in the NICU (neonatal intensive care unit) until her blood sugar levels were stable. When Maisie arrived at 10:40 am on July 4th she weighed 8lbs. 7 1/2 oz and was 20.5" long. When beginning to breast feed I noticed Maisie was having difficulties latching on. I figured it was just me. I spent many hours with lactation consultants trying to help me out. I used a shield to help the process, but after a couple of weeks she just wasn't gaining enough weight. I began to supplement and was done breast feeding when she was 5 weeks old. When Maisie was 3-4 months old we went to Children's Hospital in St. Paul, MN and saw a feeding specialist because I felt she wasn't latching well. I left with a new nipple to try on bottles and not a lot of answers.  I suppose at that age it is hard to tell a lot. I was also concerned with her weight and bowel movements so we began trying different formulas. (are you beginning to see the red flags?)

Starting the Process
I knew when Maisie was 5 months old that something just wasn't right. I first mentioned it to our Pediatric doctor where I was told that every child develops differently (which is SO true). At 9 months after her eyes were developed Maisie got her first pair of glasses. I was told she wasn't able to see my face when she was on my hip!! At the same time I contacted the school district I lived in and began the route of Special Education. In April of 2010 (9 months old) Maisie qualified for services in 4 different areas.  
We began to dig deeper...
We saw a Dr. for reflux (5 mo or so)
Neurologist -13 mo old where blood was taken for the methylation studies for Angelman  Syndrome.
Gentic Dr- results

More to follow...