Sunday, July 21, 2013

It's Not All Peaches and Cream

Noel thinking I can't see her.

I've been meaning to write a post after reading a fellow angel parent's blog. He captured so well what we go through as parents of children with Angelman Syndrome. Although our angels are happy most of the time, we live with much more than just the happy demeanor.

Regie Hamm's blog post is titled "How's Your Daughter?" and I highly encourage you to read it. You can view it by clicking on the title of the blog post above.

I think people mean well when they ask us questions, but I often think the questions come from not knowing what to say. Regie gets "How's your daughter?" frequently, but the phrase that gets me the most is "Noel got so tall." The reason it bothers me is because she didn't get tall. She is at the very bottom of the height spectrum for her age. She has two cousins that are exactly the same age as her that tower over her.

So why do people say Noel has gotten tall when she hasn't. Probably because her mind and actions are that of an infant. They expect her subconsciously to be smaller in size like a little kid because she acts younger. She's 11 years old.

One thing that really jumped out at me was when Regie began describing what it is to care for an angel that others really don't think about. It is a 24 hour job. You must always be on high alert, never resting for a moment. Otherwise, your angel is going to grab something dangerous. Something as simple as a bottle cap that she removed from a bottle a family member left behind in the house where she can reach it. I won't even begin to tell you the amount of items I have fetched out of Noel's feces. It is only by the grace of God she survived eating those.

Regie is blessed to have a wife to share the responsibilities of raising their angel. I don't have that. He speaks of being mentally and physically exhausted. I can relate. I don't get a break except for when Noel is healthy enough to attend school. She actually has a medical exemption from school because her constant strange illnesses and doctor appointments make it impossible to meet the attendance requirements.

I feel very blessed in that it was easy for me to accept Noel's diagnosis from the very beginning. I don't feel mental exhaustion with Noel (my teenager gives me that), but she is physically exhausting. She is getting heavy to put in the car, go up and down the stairs, etc. because she doesn't help and she even leans in a way that almost makes me fall over often. I actually say a prayer of Thanks to God every single time I get to the top of the stairs safely (and no, I can't put a chair lift on the stairs as my walls are made out of plaster). Then there is the no sleep thing. Noel doesn't believe in sleep. She thinks it is for wimps. That is perhaps the hardest part of Angelman Syndrome for me.

I'm not sure what the right thing would be to say to someone with a child like Noel. I love my life and I love Noel and I couldn't imagine living any other way. I think maybe we as parents just want other parents to understand; to have a glimpse at what life is like for us. I try not to dwell on the things I'll never be able to do, like go to the beach and read a book while my kids play in the ocean, but rather on the things I can do, like go to Florida to visit family.

Sunday, June 16, 2013

My Little Couch Potato

Photo courtesy of TatsuoYamashita

My oldest daughter put the Netflix for Kids app on Noel's iPad. As soon as Noel discovered it she knew what to do. She now watches every Barney video available to her. I can't get her off of it when she's home.

Noel has gotten so addicted to the Netflix app on her iPad that she won't do anything else. In addition, she wakes up in the middle of the night and won't go back to sleep because she wants to play with it. I'm not really sure what to do, as she doesn't understand my words. It isn't like I can tell her there is a time and place for playing with it.

I'm glad that Noel is capable of using the iPad to play the videos she wants. I just wish she'd be as interested in learning how to communicate with it. Maybe some day. Until then, I need to figure out how to get sleep at night.

Tuesday, April 16, 2013

Back from Vacation with a Broken Arm




Noel and Shabooky the Clown

The girls and I took a trip down south to visit family. We were excited about meeting a new addition to the family, baby Callie, and spending Easter break in sunny Florida. We traveled by car and arrived on the evening of the 27th of March. Two days later (Good Friday) my mom and I planned on heading out to purchase gifts for the kids Easter baskets. Because Noel has Angelman Syndrome and requires diaper changes, I had to take her along. I turned around to grab her diaper bag and a cup for her to take along, and in that split second she fell and broke her arm. 

Noel can't talk, but I did notice she was holding her arm out. Still, I ripped off her clothing checking all over for swelling or bruising. I saw none. She wouldn't stop screaming. This alarmed me because she has a high pain tolerance and never cries more than 60 seconds after a fall. After seeing Noel flinch when checking her arm, my mom suggested we go to the hospital to get an x-ray. Sure enough, it was broken. Not the best way to start off a vacation. 

The hospital put a splint on Noel and gave me instructions to see an orthopedic doctor within a few days. It was a holiday, so none of the doctors were open. Noel spend four days in that splint before she could get a hard cast and I'll let you guess how many times she took it off! I had to be super vigilant during that time, which meant no relaxation. We were happy, however, to get an orthopedic doctor that was sympathetic and agreed to put the hard cast on. From that day on, life was so much easier. 

The rest of our stay in Florida was a blast and since Noel has a high pain tolerance it wasn't but a few days before she could stop taking pain medications and enjoy herself. She got to hang out with Shabooky the Clown at my mom's church festival, hold an alligator at the Alligator Farm, see the parade at the Catfish Festival, watch her sister ride a bull at the town fair, and stop by Ponce de Leon's Fountain of Youth park. Of course we also had BBQs with the family, played with baby Callie, went to church, and had lots of good food with family and friends.

We wore ourselves out, but it was worth it. Our doctor here in Jersey says she still needs 2 more weeks in her cast, but that everything is healing perfectly! I'm so grateful God worked it all out and that my mom was around to take us to the hospital at the time of the fall.

Friday, August 31, 2012

Chronic Constipation Frustrations

Noel Swimming with Her Aqua Jogger

Since the day Noel was born, she has suffered from chronic constipation. As a baby a little prune juice in water would do the trick. When she progressed to baby food, a little jar of Gerber prunes was all she needed. Unfortunately, once she became a big girl eating all regular food, daily medication was needed to produce a bowel movement.

Miralax was the original drug of choice. For a long time it worked well, even though it was hard to get her to drink enough to get it all down. Eventually the Miralax began giving Noel stomach cramps. I switched to Kondremel. All this did was create an awful orange slim that would help slide the feces out.

The Kondremel no longer works for Noel and I am left frustrated at what to do. Suppositories used to work after 60 seconds, but now I have to use 3 and still wait a half hour to get the smallest result. This summer I have used enema's twice with the most recent one being Monday. It is Friday night and she hasn't had a bowel movement since I used the enema on Monday.

Being stuck home with shingles, I happen to remember that my grandmother had a laxative pill. It was tiny enough for Noel to swallow so I'm hoping that this works, although I must admit I don't hold out much hope. What's worse is that Noel's urine smells awful again, indicating a high possibility that she has another bacteria growing in her urine as a result of fecal impaction.

I recently read and article on MedlinePlus that stated those at risk for chronic constipation are those that "Have diseases of the brain or nervous system that damage the nerves that go to the muscles of the intestines." Angelman Syndrome is a neuro-genetic disorder so I have to wonder if Noel's brain just isn't telling it to have a bowel movement.

Constipation is definitely an issue among AS kids, as I see it being discussed frequently in Facebook groups. Once mom just admitted her daughter tonight at a hospital for fecal impaction.

I have to believe that the brain is the cause due to the fact that I've tried so many foods that are known for relieving constipation, as well as fiber supplements and prescription medications that are no longer working.

So what do I do? I have no clue, but I sure hope God shows me soon. I hate to see Noel suffer and have days where she won't play at all, won't eat, and won't drink. I hate to see her having to push so hard her whole face turns red and then having to rely on me to physically help remove the feces. How do you tell a brain to do its job?

Tuesday, July 10, 2012

Operation: Get Noel Ready for School

Noel at the Naval Air Station Museum in Wildwood

Today I had the pleasure of visiting the dentist (I'm being sarcastic). As I was watching the dentist prepare all of the tools she'd need to drill in my mouth for the next 20 minutes, I was reminded that the preparation isn't much different from my morning routine for Noel.

The dentist needed to have all of the tools at arms length so that she could just grab each instrument quickly. I have to do the same thing with Noel, or risk her running away before I'm finished getting her ready.

Here is how Operation: Get Noel Ready for School works.


1. Lay out Noel's outfit, which must include a matching hipperbib.

2. Lay out a diaper, wipes, and diaper cream if needed.

3. Set out the bucket of hair supplies.

4. Get the DAFOs (leg braces), special sneakers, and a pair of socks out.

5. Grab Noel and attempt to put all of these things on her without calling Anna down to help, which rarely happens.

6. Place Noel's seizure pills in a yogurt and get her to eat it, which isn't always easy considering she doesn't like to eat anything before 10 am. Sometimes I'll try to pour Kondremel (laxative) over the yogurt and get her to take that at the same time.

The operation continues with Anna babysitting Noel so that I can get her bookbag ready for school. This includes diapers, wipes, an extra outfit, a Sophie Smock for use when eating, her pressure vest, the communication folder, and her lunch box. The lunch box must have a breakfast and two lunches because she usually won't eat the breakfast.

Monday, November 28, 2011

Angels are Messengers



Yesterday my pastor was giving a message in church that made me think about my beautiful angel, and her purpose here on earth. For those who are new to Angelman Syndrome, it is important to know that the children with this disorder are always referred to as angels. Of course, this seems appropriate, since our angels are always so happy and loving. I believe, however, that when we look at the meaning of the word "angel," we discover something more significant.

Angel in both Hebrew and Greek means messenger. I began to think of the many ways my daughter, Noel, is a messenger.

1. When Noel grabs the hand of a toothless man who obviously hasn't bathed in two weeks and smiles right at him, she brings the message that we are all deserving of love.

2. When Noel plays in her toy room without any lights on in the house, she brings the message that we do not need to be afraid.

3. When Noel stops crying two seconds after being hurt, she brings the message that we don't need to dwell on the bad things. Just pick ourselves us, dust ourselves off, and move on to the next thing.

4. When Noel spends six hours straight learning how to unzip a zipper without taking a break, she brings the message that sometimes it takes hard work and determination to achieve a goal.

5. When another child takes a toy right out of Noel's hand, she laughs and moves on to another toy, bringing the message of forgiveness, and dwelling on what really is important (not silly material objects).

6. Best of all, when you are feeling down in the dumps, Noel gives you a smile with a sparkle in her eye that instantly lifts your spirits despite it all. She is bringing the message you can find joy in every situation.

Noel has done all of the things mentioned above. Noel has brought me so many messages over the years. I appreciate the Father trusting me enough to be her mama. What a beautiful angel! What a beautiful messenger!

Friday, September 2, 2011

The Strange Illnesses Continue


Noel wearing 3-D glasses for about 2 seconds at Disney.


Noel has a history of coming down with strange illnesses. This summer has proved no different.

The problem started when I began to notice a skunk-like odor within my house. At first I blamed the newly purchased guinea pigs. It wasn't long before I discovered the unpleasant scent was coming from the urine in my daughter's diapers. Over the period of two weeks, the smell got so bad that one diaper thrown in the kitchen trash would stink up the whole house.

To the doctors we went. I am positive that if they didn't know us so well, they would have thought I was crazy. Noel had no symptoms of any illness. Getting a urine sample is the only way to find out what is going on, but that is not an easy task. Noel can't pee in a cup.

We were sent to the hospital so Noel could be catheterized as an outpatient. Outpatient said "We don't just catheterized people for no reason." UMMMM? I did have a reason. They said I could collect the urine in a bag and proceeded to call up to the lab. Guess what? The hospital lab was out of bags. How does that happen?

To make a long story short, we had to go through the hospital's ER. The doctor in the ER said there was a trace of something, but it wasn't a big deal. This took 4 hours. The next day, the hospital called and said the culture showed the growth of bacteria. The frantic nurse went on to say that I needed to go to the pharmacy and get an antibiotic ASAP. It was late afternoon, so I got the antibiotic and called her pediatrician the next morning to find out exactly what was going on.

The pediatrician called back after receiving Noel's lab work. He informed me that she had a rare bacteria called providencia, which he had to look up because he had never heard of it. Apparently, it is found mostly in burn patients. On top of this news, the doctor said the antibiotic the hospital prescribed is resistant to this bacteria. I had to go back to the pharmacy to get another antibiotic.

I am happy to report that Noel no longer smells me out of the house with her skunk-like diapers. They have returned to normal. Just praying she stays healthy and doesn't continue this pattern of strange illnesses.