Wednesday, June 30, 2010

Noel's Clinical Features of Angelman Syndrome

Photo from left to right: Anna (sister), Noel, and Destiny (cousin)

You can find a full list of Angelman Syndrome clinical features on the Angelman Syndrome Foundation website by clicking HERE! I am just listing the ones Noel presents with.

A. Consistent (100%)

1. Developmental delay, severe mental retardation
2. Slight gait, jerky movements, stiffness of the body, not always steady.
3. Happy personality most of the day with lots of laughs and smiles.
4. Easily excited and flaps her arms (I call them angel wings).
5. Non-verbal
6. Able to understand a little of my words, but not able to communicate back.

B. Frequent (almost 80%)

1. Microcephaly (small head) by 10 months old.
2. Seizures-febrile since 1 yr. old, on Topamax by age 5 for non-febrile.
3. EEG with abnormal results

C. Associated (between 20 and 80%)

1. Flat occiput
2. Sticks tongue out sometimes. Born with feeding and swallowing disorders.
3. Widely spaced teeth
4. Lots of drooling
5. Must chew on everything. Everything goes in the mouth. Also has PICA.
6. Sensitive to heat (both food, bath temperatures, and outdoor weather).
7. Doesn't sleep well. No apparent pattern. Doesn't seem to require normal sleep.
8. Fascination with water, plastic, and paper.
9. Constipation

Noel was on acid reflux medication by 2 1/2 months old. She also has an epigastric hernia. She is prone to pneumonia and upper respiratory infections.

Mental Retardation is a Clinical Term

Just thought talking about the word "retardation" was necessary. SO many people are offended by it. Here is how defines the word:

Occurring or developing later than desired or expected; delayed.

It also goes on to point out that the word was created around 1788 when retardation meant simply delay. It wasn't turned in to an offensive word until 1970.

I have no problem listing Noel's symptoms and telling people that the Dr.'s have classified her as severely mentally retarded. It's a medical term just like Angelman Syndrome is a medical term. I don't take offense to it.

From what I understand there are 4 basic degrees of mental retardation: mild, moderate, severe, and profound.

Of course I don't want people to go around calling my daughter a retard. That would be rude and cruel (although she would just smile and laugh at them). That is just a person taking a good word and turning it in to something bad. The purpose of this post is just to address those who are offended by the word even when it is being used for clinical purposes.

Swimming with an AquaJogger

Photo of Noel swimming with her sister while wearing her AquaJogger.

There is nothing angels love more than water! I never in my wildest dreams would have thought that Noel could swim independently in a pool. Thank goodness her school has a pool, and that they taught her to swim with an AquaJogger. An AquaJogger is not a life-saving device, it just forces my angel to remain upright so that she does not keep going face first in the water.

Noel is now 8 years old and has been swimming with an AquaJogger since she was 3. She uses the AquaJogger Active Belt. Although they have Jr. AquaJoggers for younger children.

I first purchased an AquaJogger for my daughter to use at home in the summer. It came in handy when we went on our first cruise. She was able to swim independently in the ship's pool. Swim Outlet has AquaJoggers for half the price of any other store. I was highly impressed with them and would recommend them for any child with a disability.

Tuesday, June 29, 2010

Meet my Angel

My beautiful Noel was diagnosed with Angelman Syndrome when she was 14 months old. We were lucky enough to meet with a neurologist who was familiar with this syndrome. She ordered the blood test without tell us what she was looking for and had the results a month later. Noel was chromosome 15 deletion positive.

Noel is always happy, and very loving. She doesn't mind if you are old, or haven't taken a bath in 2 years. She will show you unconditional love. She teaches me many important life lessons.

Unfortunately, Noel does not understand danger, cannot talk, has trouble communicating, has seizures, feeding difficulties, sensory disorders, mental retardation, and much more. It's easy to forget these cons when you see her smile and feel her give you the biggest squeeze ever.

This blog will go along with a book I am writing on my life with my angel, Noel.