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Angelman Syndrome: Our Story

Welcome
Hattie
Eliza
Glenn
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Eliza’s story started before she was born.  I had terrible morning sickness that lasted all day.  By the fourth month I had lost 15 pounds but I was starting to feel better and the doctors weren’t concerned.  I progressed nicely; gaining weight slowly but surely.  Contractions started around 31 weeks but they weren’t alarming.  I took things easy and started preparing for another child; the ultrasound had shown a girl.   We planned to do another C-Section. Hattie had been frank breach and wouldn’t you know it, Eliza was breach too.

 

 

During a routine obstetric appointment at 32 weeks, I was measuring only 27 weeks.  Because Hattie weighed 4 lbs 13 oz at birth and was full term, the doctor felt it was best to immediately start Non-Stress Tests for this pregnancy.  Twice weekly I went to the hospital and was hooked up to monitors.  They watched her heart rate, counted movements and noted any contractions I was having.  Many times I had to drink Apple Juice during the appointment to jump-start her activity. Sometimes the nurse even had to use an electric razor on my belly to stimulate her to move.  They also watched for signs of spontaneous breathing through ultrasound.  A couple of times I didn’t pass the test because there weren’t enough movements or she didn’t see her breath enough times during a 20 minute period.  I was then sent to Labor And Delivery for extensive monitoring.  I was always sent home a few hours later, I certainly wouldn’t call them NON- Stress Tests!  This went on for six more weeks.

 

At 37 weeks and 6 days I returned for another Non-Stress Test.  Once again I didn’t pass the test and was sent for a more complete Ultrasound with the OB.  He decided it was in my best interest to deliver Eliza that day.  It was just past noon and because I had eaten at around 9am the C-Section was scheduled for 4pm.  I was taken to a room in Labor and Delivery where I was hooked up to the monitors until delivery.  A few minutes later the doctors came in and started prepping me for surgery, I barely had time to take my contact lenses out.   Fortunately my husband worked in the hospital and was able to make it in time.  I still don’t know why they changed their minds to deliver her earlier, whether there was a problem with her heart rate, or it just fit into their schedule to proceed sooner. 

 

Eliza’s birth went well.  No complications.   She was born on April 22, 2002 at 2:02pm and weighed in at 6lbs, 1oz.  She had great apgars, 7 and then 9.  My hospital stay went as expected.  Everything seemed fine and we went home a few days later.  I was breastfeeding her, just like I had done her sister.  It wasn’t going as smoothly though.  It was so messy feeding Eliza.  I would stuff towels into the bottom of my bra to catch the milk that was dribbling from her mouth.  She wouldn’t stay attached for long and it always seemed like she was uncomfortable.  She was just never content.  She also spit up a lot.  I continued breastfeeding, determined not to give up.  From having breastfed before, I knew it could take some time for mommy and baby to get used to one another. 

 

At 6 weeks old, Eliza still cried a lot but we were in the process of moving into a new home, summer was approaching and it was getting hot, I had tons of excuses for her irritability.  It was almost as though it hurt her to be held though.  She was always moving and squirming.  I didn’t have that closeness I wanted with her, I longed to just hold her.

 

When she was 11 weeks old we left our new home in Virginia and drove back to Missouri to visit family for a few weeks.  Several people commented about Eliza being so small and looking uncomfortable.  She didn’t weigh more than 8 pounds and always had her legs straight and a tight tummy.  It was at this time my mom suggested trying cereal for her.  I made a trip to the store and bought formula and rice cereal.  It was amazing.  She couldn’t get enough.  I kept thickening it until it was the consistency of mashed potatoes and she loved it!  When she was full she fell asleep and slept for several hours, something she had never done before.  It was a turning point in her small life and I switched to formula and a bottle a couple of weeks later.  It seemed like the hardest decision I had ever made, to stop breastfeeding.  I didn’t want to admit defeat but realized it was in her best interest.  

 

Eliza was gaining weight finally.  She wasn’t as pale and looked happier.  At five months she rolled over.  I was excited because this was a month sooner than Hattie had rolled over.  A few more months went by and she didn’t reach any more milestones.  She wasn't able to sit up on her own, her whole body would just curl over her feet.  We missed her 9-month checkup due to bad weather and couldn’t get back in for another 6 weeks.  She was 10 months and I was concerned about her development.  The doctor echoed my concerns and recommended we see a Neurologist as soon as possible.  She also put us in touch with the city’s Early Intervention Program.  We weren’t able to get in to see the Neurologist for a month.  While we waited, the city paid a visit to our home and Eliza qualified for services.  We now had visits from a Physical and Occupational Therapist weekly in addition to the Early Intervention counselors.

 

When Eliza saw the Neurologist he ordered a number of blood tests and a MRI scan of her brain, she was about to turn one year old.  All the tests came back normal although the MRI showed her mylenation was on the low end of normal, but that wasn’t uncommon at her age.  He also noted her small head circumference and said she was Hypotonic or “floppy like a rag doll”.  He ordered an eye exam because she couldn’t seem to focus on an object and would reach past it if she tried to grab it.  Her exam was normal.  We also met with the Pediatric Neurodevelopment team.

 

It was about this time her Ataxia (shakiness) became noticeable.  She began to get more trunk stability at about 12 months and was able to sit on her own.  I recall the looks we would get in restaurants because her body was moving uncontrollable while she sat in the high chair.  She would get so frantic when we fed her, she had trouble controlling her arms and it was as though they had a mind of their own.  Her whole body would shake and her arms would flap. 

 

Eliza never had any feeding problems; she progressed easily onto baby food at five months and table foods by 9 months.  She still continued to spit up though.  It took us some time to learn what combinations wouldn’t work together and when to stop feeding her.  Because she couldn’t feel full, it was easy to over feed her.  She also had a strong desire for something in her mouth, anything.  She loved toys she could chew on and we had to make rules of what toys Hattie could bring around Eliza. 

 

At fifteen months Eliza began to crawl.  Suddenly a whole new world opened up and the house had to be Eliza proofed.  It is amazing how much her Ataxia improved when she became mobile. 

 

In the fall when she was 19 months old we began weekly classes at the Early Intervention Center.   Eliza loved seeing the other children.  She would go over and kiss them but never would actually interact with any of them.  At the center we worked on putting blocks into a container and then taking them back out.  We sang songs, finger painted, worked on holding a crayon, but mostly she was interested in putting things in her mouth. 

 

I had also just found out we were expecting our third child. This pregnancy was going much better and I was determined not to be sick.  I didn’t know if Eliza’s disabilities had something to do with my morning sickness so I fought to keep every ounce of food down.  On April 1st, 2004 Glenn was born.

 

We continued to see the Neurologist and he repeated her MRI at two years of age.  It came back normal.  He warned us that we might never find the answers we were looking for.  We also continued to see the Pediatric Neurodevelopment team every six months. 

 

Eliza transitioned out of the Early Intervention Program during the summer and started Preschool that fall.  She attended Special Education classes 5 mornings a week at our local elementary school only a mile away.  It was hard for me to let her go at first.  I cried the first two weeks every time I saw a bus with the blue handicapped sign.  It was the realization that I had a child with disabilities.   It was also hard to let someone take over.  I had cared for Eliza since she was born; I was her primary care giver, a stay at home mom.   I worried about her putting something in her mouth at school, getting into the toilet, the teachers getting frustrated with her because she wouldn’t hold still while they changed her, her pulling another child’s hair, I worried about everything.  It was hard to let go.  But it was good.  It was all good.  They loved her.  She loved them.  Through it, Eliza and I formed a closer relationship.

 

The Neurodevelopment team set us up with a Gait trainer soon after school started.  It was a reverse gait trainer so Eliza pulled it along instead of pushing.  It was a better fit for her and reminded her to walk with a gentle push from behind.  By Thanksgiving she was taking some steps while holding onto something such as the couch or wall.  Over the Christmas break she took her first independent steps, we couldn’t have asked for a better Christmas gift and we cried.    She was 2 years and 8 months old and I didn’t think she would ever walk on her own.  Her school was so surprised when she returned.

 

After recommendations from the Neurologist and Pediatric Neurodevelopment team, we saw a Genetic Counselor in the spring.   The Geneticist immediately recommended testing for Angelman Syndrome.  We had never heard of it before.  We searched the web for information about AS and a few weeks later had the final diagnosis; Eliza had Angelman Syndrome, she was Deletion Positive.

 

 

Eliza attended a half day preschool program five days a week for children with disabilities through the local school district for two years while we lived in Virginia.  After moving to Texas she began a full day program five days a week.  She started out the first year in a PPCD and then progressed to a Pre-K program.  In the 2007-2008 school year she has been completely mainstreamed into the Pre-K program.  She loves school and loves to be around other children.  You would think she was a movie star the moment she arrives at school.  She children circle her and hug her.  They are so excited to see her.  She has a full time aide with her at all times.  She enjoys walking around the school visiting different classrooms through out the day.  She loves going to the library and occassionally tries to sneak into the boy's restroom.  She prefers the company of men and if she hears a man's voice, she will seek it out.  The world will stop turning if her friend "Lane" (seen on the horse with her) walks into the room.  She loves him!  Her interaction with her peers has increase through the years.  She used to ingnore them unless they had something she wanted, now she pays more attention to them.  She loves the attention they give her.

 

She is non-verbal but very vocal.  She can get loud if she wants something bad enough.  When she is excited she flaps her arms or arches back and squeals.  She is mostly happy but has the entire spectrum of normal emotions.  She especially gets upset when it is time to eat. She prefers to finger feed herself because she can control how fast to do it.  She will feed herself with a utensil if you place the food on it.  She drinks from a cup with a lid and straw.  She likes all foods but prefers sweets.   

 

We limit ourselves to certain restaurants that we find most accommodating.  The tables have to be big enough to allow a large radius for Eliza’s arms.  She has an unbelievable reach!  We always request a table for six although there are five of us.  We immediately warn the servers not to place anything near Eliza, and to deliver the food to the other end of the table.  It only takes a second to clear a tray full of food and drinks and she is as fast as lightning! 

 

Grandpa made Eliza a special contained bed.  It is similar to a crib with high sides.  It encloses a twin mattress and box spring with double gates on the front for easy access.  She loves it!  Because she doesn't always sleep well and can wake up sometimes during the night, it is the most secure way to keep her protected.  Eliza has an overwhelming need to keep moving so a contained environment allows her to relax and fall asleep while preventing her from roaming around the house.  She has her crib toys hanging on the sides and she loves to play the music while falling asleep. 

 

We thought Eliza was one of the lucky few children with AS who didn't have seizures.  In August of 2007 she began have numerous seizures a day.  They first showed up as drop seizures where her head would drop to one side.  As we learned more about seizures we realized she had been having them since infancy, we just didn't recognize them as such.   She had several episodes prior to August when we thought she was getting sick because she would gag all day long every 30 minutes.  We later would find out these were complex partial seizures.  In September she had her first Grand Mal seizure at school.  It scared everyone of course and Eliza was transported to the ER by ambulance.  We were finally able to get her started on anti-seizure meds but are now fighting the side effects.  She has had several break-through seizures and we are trying to find a good balance. 

 

Eliza participated in the Angelman Syndrome Therapeutic Study through Baylor in Houston.  For one year she did a combination of vitamins and supplements in hopes of changing the DNA composition and lessening the effects of AS.  It did wonders for her in calming her movements down and allowing her to concentrate.  Unfortunately the study was only for a year and she stopped taking the supplements in January 2008.  We have seen a decrease in her ability to concentrate, especially at school.  We are working on adjusting her diet and adding some more vitamins in hopes of gaining that level of concentration back.  We will be adding Folic Acid to her diet and may try the Omega 3 Fish Oil that so many other parents are using.  Eliza is also taking 3mg of Melatonin nightly to aid in sleeping.  Her ability to go to sleep and stay asleep diminished when she went on the anti-seizure med in September.  She is doing much better with the Melatonin. 

 

Eliza is beginning to recognize some pictures and we hope to implement a picture exchange as a form of communication.  It is our hope that through this proven system that Eliza will bring us a picture to communicate her needs and wants.  She is working through school and through speech therapy with a choice board of two items, one food item, and one non food item.  Because food is such a high motivator for Eliza, she is getting positive feedback making choices.  Many families have had great success with this approach for their non-verbal children.

 

Through our own observation and talking with other parents of angels, we know that Eliza has full comprehension.  She is extremely intelligent and very determined.  She doesn't ever give up on something she wants.  She is a fun child who has a huge heart and a winning smile.

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My Angel Must-haves:

Tent-Cot by Kamp-Rite for travel
Hand-held shower head with on/off switch by Delta- it's wonderful because you can stop the flow of water by pressing a button on the side of it.
Musical crib toys
Sturdy chew toys
table fan in bedroom to drown out any outside noises -makes for better sleeping