Genetic Test Results

As I mentioned in a previous post... Maggie has been run through many tests. The worst test we endured was the genetic tests they ran from Maggie's blood. Especially since the Geneticist was specifically looking to test Maggie for Angelman Syndrome

We left the Geneticist office with the instruction to have blood work done.... then we were supposed to wait until the tests results were sent to our doctor. The test itself takes about a month to run. Meanwhile, I begin researching about Angelman Syndrome, and while the diagnosis is questionable... I couldn't get out of my mind the fact that most children with Angelman Syndrome will NEVER talk.

So, we waited... we cried... we waited some more... I looked at my precious little Maggie and prayed- wondering what God's plan is for her... then we waited some more. It wasn't until we went to our pediatrician for Maggie's check-up (4 months after the test has been run) that we found out the results of the genetic tests were NORMAL!

At this point in our life we made the decision that, for now, we are DONE with tests. The emotional toll it has taken on our lives was not worth it. If Maggie does have a syndrome, which she has tested negative to them all, there is nothing we can do. We can learn more about the facts of the syndrome, but we can't cure it. We were also just a month away from having our third baby, and it was time to just live, laugh and love!

Saying Words

Here's a video of Maggie saying and signing "MAMA" and "DADA"
at 18 months old.


Update: Unfortunately, Maggie's speech stalled here. She has taken a really long time to make any other sounds. Sometimes I wonder if learning sign language kept her from trying new sounds because once she learned a sign, she stopped trying to talk. For example, she is now almost 3 and she won't say MAMA anymore. She just does the sign.

Here's something we just learned- SIPPY CUPS ARE A "NO-NO" for hypotonic children. Drinking from a sippy cup allows the child's tongue to stay in an outward position while drinking and it has made Maggie's tongue continue to protrude a little. The best sort of drinking cup is the kind that has a straw attached!

She's Walking!

I got this picture from a video we took of Maggie WALKING
at 18 months old!!!

We are so proud of her!

Practice and Signing

Maggie's working on walking...
It won't be long!

Here's Maggie with her sister, Shelbi.
They are signing the word, LOVE!


We are teaching Maggie sign language, and her sister is helping. Maggie is not talking yet, and we don't know when she will. So, to help her communciate we are learning sign language through videos called "Signing Time" There is a link on the side of my blog if you want more information on Signing Time. It has been GREAT for us, especially for Maggie!

Here is big sister Shelbi helping Maggie learn to walk!
So sweet!

God's plan in making Shelbi Maggie's big sister is perfect!

It keeps on coming!

The newest advice we've been given....
AFO's

No, not UFO's, but Ankle-Foot Orthotics.

In theory, these orthotics would help strength Maggie's ankle muscles, and help to keep her ankle's from putting too much stress on her joints. Hypontonia affects all muscles in the body. And in Maggie's case, her leg muscles are not strong enough to hold her ankles in the correct position- causing her ankles to pop and move in the wrong position.



The reason I say, they would have worked in theory... is because just about the time these were prescribed for her she was standing on her own, crawling on her own and I believe- on her way to walking. The AFO's had no movement to them, they were hard like a cast. So, once she had these on she stopped standing and crawling because she could not move her ankles at all.

We could have gone back and our insurance would have paid one more time for us to get another pair (they run about $700.00 dollars for ONE- that's $1,400.00 a pair!)
But, it took about 2 months to get this pair. Maggie was walking before we got another pair. We never went back)

UPDATE: We will need to get Maggie supports at some point in her life. Her muscles may be never be strong enough to support her ankles. But that is something we will continue to research with time.

Sensory Overload

We have been told by other parent's that have children with Hypontonia that they sometimes have sensory deficiencies. Sometimes they don't feel certain senses as they should (such as a high tolerance to pain) and sometimes they are over sensitive to certain things.

For example, Maggie HATES to feel grass! She will do anything she can to not touch grass. Here's a picture of her crying for help because she doesn't want to crawl on the grass.

Cutest Little Pirate

The next adventure in Maggie's life. Her left eye wanders when she is tired or looking at something far away. So, for three months we have to patch every other eye for the last two hours of the day to give her eyes extra rest. Hopefully this will give her more strength in her eyes to control their direction.She is still the cutest little pirate we've ever seen!

UPDATE: The patch didn't really work for Maggie, as she was ALWAYS pulling it off (looking back, we should have been told to start the patch earlier- at an age when she wouldn't be as aware or able to pull it off).

We worked really hard to help her keep it on- distract her, sit with her for those few hours, but ultimately her eye just needed time to strengthen. Realizing what Hypotonia is- a weakend muscle system in the body- many of Maggie's muscles need help getting strong. Her eye stopped wandering soon after we stopped using the patch (about a month) so that might have been enough time for her to strengthen her eye.

Maggie is Crawling!

At 16 months, Maggie has finally decided that it's time to crawl!

WooHoo!
Go Maggie, Go!

Standing!!!

Go figure~

Maggie isn't crawling yet, but she can stand by herself!
The therapists are confused because she shouldn't be able to stand straight up without using her hands to get her up.

I think Maggie is on her own timetable. She's determined to make sure she's noticed! And, she will do what she's gonna's do when she is ready to do it!

Spandex is Back!

Maggie is having physical therapy sessions at home twice a week. We fashioned this spandex outfit for her to help her build better muscle tone since that is her biggest weakness right now.

She always wants to sit with her legs spread out. The spandex helps to keep her legs together in order to help her build stronger muscles throughout her torso and inner thighs.
Here are some pictures to help describe everything.

This is Maggie usual way of sitting. Legs out to the side and back hunched a little.

"You want me to wear THIS?"

MRI

Maggie's MRI is done, but not without some struggle.
We arrived at 2:30 for her 3:00 appointment.
Here's how the conversation went when we arrived.

Heidi: "Are we allowed to feed Maggie if she gets hungry while we wait?"
Receptionist: "Well, I think so. Has she been sleep deprived today?"
Heidi & Eric: "What?"
Receptionist: "She is supposed to be sleep deprived for a whole day."
Heidi: "No one told us that. They were supposed to be sedating her."
Receptionist: "Oh, no, we don't sedate babies here."
Heidi: "But she is only 14 months... how is she supposed to stay still long enough?"
Receptionist: "If you don't think she will fall asleep on the table then y ou'll have to have your
Pediatrician sedate her and then come back..."

To make a long story short... it took over an hour to figure out what was going on. Finally the office told us that they would make an exception and sedate Maggie but we would have to come back another day. They wanted to try and do the MRI with Maggie awake first, though.
We were praying that it would work, but in our minds we seriously doubted that she would be able to stay still long enough.

SHE DID!

Maggie continues to amaze us and we are so proud of her. They strapped her down, put cotton in her ears, all while Eric was by her side. I couldn't be in the room because I am pregnant. Maggie cried pretty hard when they strapped her head in place and she couldn't move. But after a few minutes our precious little girl went to sleep. They were able to get all the pictures they needed and we are so thankful! We should hear results by the end of next week sometime

UPDATE: Our pediatrician just called and said that Maggie's MRI results were faxed to his office! Everything is completely NORMAL! Praise God!

Thank you, again, for your prayers and your love!God's hand was on Maggie the whole time and that's the way it has always been!

Interesting Weekend..

Our weekend started out pretty confusing. Maggie woke on Saturday morning around 3:30 AM in a lot of abdominal pain. We called our pediatrician and we gave him her symptoms. (Now I am going to get graphic with details of POOP!) Our pediatrician asked how her bowel movements had been. She had had three poopy diapers on Friday, all of which were pretty firm, but somewhat normal for her. The pediatrician said that we needed to take Maggie to a Children's hospital ER to be checked for Intussusception- an accordian-like collapse of her bowels. If left untreated it could be really bad and would likely need surgery to remove parts of her bowels.

So, off to the ER at Loma Linda we went. She was running a slight fever when we got to the ER so we were also concerned that she might have another Urinary Tract Infection. During this whole process Maggie was in a lot of pain. Her tummy was almost rock hard and she was so uncomfortable. The first thing they did was try to put a catheter in to retrieve a urine sample. Luckily she showed no signs of a Urinary Tract Infection.

(update: May 16th Loma Linda ER called and Maggie's urine culture-a three day test- came back positive for a Urinary Tract Infection. She'll be put on antibiotics for the infection)

Next they took an X-ray of her abdomen. The results of that X-ray showed that she was horribly compacted with a large amount of stool. Next up was a little rest for Maggie as by this point she was exhausted from crying and from the pain. She was awakened with an Enema! The amount of stool that came out was a little scary, but we were thankful for a little relief for her. The doctors were still willing to do an Ultrasound of her abdomen to make sure that she wasn't suffering from Intussusception. The ultrasound was completely normal, but they did see that she still had a large amount of stool in her bowels. So, one more Enema did the trick! It is a little scary to think of how much POOP Maggie had stored in her bowels.

Now, the diagnosis for all of her pain and stool was nothing more than a change of diet (which I think is funny since she eats nothing more that Formula, baby food, cheerios and veggie puffs... it's not like we're feeding her cheese all day long!)

But, after some research on my part and some discussions with the doctor, Maggie might have weak bowel muscles. The reason I think this might be related is because Maggie is hypotonic.

Hypotonia is a symptom... of what? We don't know yet, but her MRI and blood tests should hopefully lead us in the right direction. But hypotonia is a lack of muscle tone that could be through her whole body. So, for now, Maggie is on a diet of formula, prunes and anything else that can help with her "movements!"

More Tests

Maggie and I met with the neurologist this morning
and he has suggested... more tests!


First, he would like to have an MRI taken
to make sure nothing is wrong with Maggie's brain.

Second, he wants an extensive analysis of Maggie's
DNA/Chromosomes to look for any chromosomal abnormalities.

Third, he has recommended we get in touch with the
Early Start Program to see if Maggie qualifies for in home therapy.

We will now begin the waiting process. Waiting for the referrals to be cleared, for the doctors to be notified and for the appointments to be made. All in all, if any of these tests come back with abnormalites there isn't much that can be done. Maggie will still be on her own time table.
She is a bright blessing in our life and we are so thankful that God has blessed us with her... exactly how she is!

First Diagnosis of Hypotonia

Eric and I always worried about Maggie. From the moment she was born... we just knew that something wasn't right.

She didn't cry right away when she was born. The doctors and nurses had to work really hard to get her to cry and really breathe. She was making that Stridor sound from day one... then diagnosed with a floppy windpipe.

She didn't hold her head up as early as she should have... she didn't sit alone until 8 months old (most babies crawl at that age of development) and finally, by the age of 1, Maggie still wasn't crawling!

When we took her to her one year check up at the Pediatrican's office, he told us that we needed to see a Neurologist right away. Something wasn't right and he didn't know what it was... but he did say that she was Hypotonic. This was the first time we had ever heard that word.

Happy 1st Birthday, Maggie!

She's One!
What a celebration today is!

Here's a picture of Maggie with some of the firemen that responded to our 9-1-1 call on April 5, 2005! We wanted to thank them for all they did for us that night, and we wanted them to meet the little baby they helped that night!