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...

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