Testing Results Part 1

It's been a long time since I've written. We've gotten a lot of Maddy's test results back from the Mayo Clinic. It's taken us a bit to process some of them. We got so many results at one time. Not to mention that life has been crazy in general lately. Basically, there are two main issues that came up out of everything. I'm going to break this up into two different posts, as there is so much information.

The most important result (at least to me) came out of the sleep study. The sleep study was a crazy experience to be sure. For those that have never done one, it is not pleasant by any means. The technicians literally glue 13 plus electrodes to your head. In Maddy's case, I had to hold her down in a chair so the tech could use industrial strength stinky glue to put these little metal electrodes on her head. I'm sure it hurt to have those things stuck down. With Maddy not being able to talk, it was that much worse, as she can't tell me if it hurts or if she was scared or confused. I thought for sure she would never sleep connected to all those wires, but when it was all said and done, she was so worn out from the whole ordeal that she was able to fall asleep.

When we got the results a day later, we found out Maddy has sleep apnea. She has both central apnea and obstructive apnea. My understanding from the doctor's explanation is than central apnea is the brain simply forgetting to tell the body to breath. Maddy had a few episodes of this type of apnea throughout the night. These episodes lasted only seconds and it is thought that she will eventually grow out of them all together.

Maddy also has obstructive apnea. This means that something is obstructing her breathing. She had an average of one obstructive apnea an hour. I didn't need the doctor to tell me that was a crazy number. The doctor noted that most of the time this occurs because either the adenoids and/or tonsils are enlarged and blocking the airway. He asked if we had ever had a MRI done. We told him Maddy had gotten one approximately 2 or so years ago and that it should be in her file. The doctor pulled up Maddy's MRI right there in the office. He told us he thought that her adenoids looked big already then. Yikes!

Long story short, the sleep doctor told us that we had to follow up with an Ear, Nose and Throat specialist. He also told us that he would recommend that Maddy have both her adenoids and tonsils removed and if the ENT didn't agree, he suggested we get a second opinion.

The results of the sleep study really made me feel vindicated. I've felt for years that her sleep was not normal. It took me that long to convince a doctor of that fact. Every time I told a doctor that I didn't think she slept good, that she wakes up a lot at night, that she's had ongoing issues since she turned 14 months, etc.; I would get brushed off. "She's just going through a faze, she'll grow out of it," were the phrases I most often got told. But here was proof in black and white that a mother's intuition is always right.

Hopefully, the ENT visit will finally address the problem. I know that the sleep issue isn't a diagnosis. It's not a cure all for everything that's going on with Maddy. However, we have seen Maddy make much faster development milestones when she's been getting good sleep. The possibility of her actually getting good sleep nearly every night has me wondering how much that can help improver her life, both at home and at school.

Testing....1,2,3

We have begun another round of various testing for Maddy at the Mayo Clinic in Rochester. We've already had few appointments for various consults. So far we've learned not a whole lot. The tests with the most potential to yield some answers are still coming up.

We are scheduled for a neuropsychology appointment next week. I'm not entirely sure what all to expect with this one. I was told it can go all day or it could only take half a day. I do know it will involve several cognitive type tests as well as ADOS (an autism diagnostic tool).

We are also scheduled for a consultation to discuss doing gene mapping of some kind. At this point, all of Maddy's test have been normal. Gene Mapping may provide an answer, it may not. In fact, the geneticist told us that the chances of such testing turning up anything is most likely around 20%. Not very high hopes. He did however, state that if we are thinking about more children, it could tell us whether Dave and I are likely to pass something similar (if it is a genetic issue) onto another child.

I have a lot of mixed feelings about this topic. On the one hand, I do want another child. On the other hand, it is a little scary with not knowing Maddy's future. I can't say with any certainty that she will become "normal" (whatever that means.) I can't say with any certainty that Maddy will one day be able to live independently. I know that that's a long way off. Maddy is only four and there is a long time before that will be something that needs addressing. But all of those decisions come into play when thinking about another child. It's not a decision I'm ready to make right now. I went back and forth on whether or not I wanted to share thoughts on this topic. But I feel its a topic that doesn't get addressed very often, and because it is such a very personal decision for a family to make. I mostly wanted to share these feelings to let others know that it is okay to feel that way. It's okay to not know the answer and it's okay go back and forth on what the answer should or could be.

I will be keeping everyone updated as the testing goes. I am hopeful that maybe we might know something (anything) very soon.

Pictures

We tried to take family pictures with a photographer the other day. What a disaster. Not the photographer. She was fabulous. Maddy has proven she hates posing for professional pictures before. The last time we took her, we got 3 or 4 decent pictures out of 40. None of the 3 or 4 had her smiling. This time, she screamed and/or whined for an hour and a half. We taking pictures at a nature trail. We got a few good ones there. Between Dave and I we were able to distract Maddy for short bursts and get her to smile. But the reprieve was always short-lived.

We decided maybe Maddy would be more comfortable at home in our backyard. We were wrong. The whining and freaking out continued. *sigh* I was convinced we would have nothing to work with. As she was leaving, the photographer said she thought there was enough there to work with. She also noted that Photoshop could work miracles and that most of those perfect pictures you see online are all photoshop. I knew she was probably right, but I still had my doubts.

I was pleasantly surprised when I got our cd of pictures. There were some fabulous pictures. In fact, I got a little crazy ordering canvases. I can't wait until I get them. Massive props to Tracie and Chris at Thousand Words Photography for getting these amazing photos.

Tears and Progress

I cried a little the other day. They were good tears, happy tears. We had a meeting with Maddy's teachers before the end of the school year. Her teacher wanted to show us what they'd been working on.

I admit,  I was skeptical that it would be much more than we just talked about a few months ago at her IEP meeting. Maddy had been making some new sounds she hadn't before, but no actual words. She's starting to say something that resembles a combination of "Grandma" and "Grandpa." It comes out a little garbled, but it's holding promise. Maddy will also now sign "please." Other that that, however, I haven't seen a lot of new things going on at home.

I couldn't have been more wrong. Maddy was following simple directions. Things like "touch your head," "turn around" and "clap your hands" posed no problem for my little girl. I was already well on my way to fighting back tears at this point, when the flash cards came out. The flash cards were pictures of items. The teacher laid out three different pictures on the desk. "Maddy, where's the ladder?" her teacher asked her. She looked very carefully at each card before picking the right one. The tears did come then. I held them back as best I could, but a few still slipped out. This was especially true when I looked at my husband in wonder. He had, I'm sure, the same look on his face that I had on mine.

We watched as Maddy picked the right card time after time. I was so amazed and proud of my little girl. Even more so when her teacher decided to bring out cards depicting actions. She warned us that Maddy had never seen them before. Maddy obviously didn't do as good with them as the others, but she picked several of the right answers without any prompts.

For me, this is one more sign that Maddy will be okay. I really struggle with emotions on this topic. Part of me wishes that Maddy would be "normal" with "normal" development. I think every parent goes through that thought. Particularly a parent who has a child with special needs. I struggle with being okay with how Maddy is right now. A part of me hopes that she'll just grow out of this delay and suddenly catch up with her peers. I know that that's unlikely and that a more likely scenario is that eventually we will have a diagnosis for Maddy.

None of those emotions change the fact that I'm so proud of my daughter for overcoming as much as she has. She is the most delightful, happy, sunny child. Even if she doesn't really want to do things, she will do them. She might complain about doing those things, in her own way. But, the complaining never lasts long. She is so smart. When she is ready to learn things, it doesn't take her very long at all. But she has to be ready for them. I'm getting better at learning to be patient and let her learn at her own pace. Every time I see her doing something new she learned, that patience pays off.

Maddy is Four!

It's hard to believe that four years ago, we were blessed with the beautiful girl that is Madelyn. She's the light of our lives, and is growing up so fast in some ways.

I loved every second of being pregnant (except the morning sickness, which didn't last too long for me). I had a text book pregnancy. Not a single complication or issue arose. Even birth, seemed easy. I went into the hospital around 9:00 pm and by 4:00 am the next morning, our baby girl was born.

We've had many challenges raising Maddy, but I would not change one single thing about her. (Well, maybe it'd be nice if I could get her to stop banging on my cabinet glass just so she can get a rise out of me.) While it would be nice to have answers on why Maddy's development is delayed, I try to live every every day with her in the moment. I especially plan on enjoying today as we celebrate with friends and family our funny, happy, goofy, beautiful little girl, who's not so little anymore.

Leaps and Bounds

Maddy at her birthday last year.

As Maddy's 4th birthday approaches in less than a week, I've been thinking about where Maddy was at development-wise last year. Even in the last few weeks, Maddy has seemed to advance leaps and bounds from where she was.

She has been interacting more and more with other children. Prior to this, Maddy has preferred to play on her own. It had me thinking that she might be on the Autistic Spectrum (even though dr.'s told me she wasn't). Lately however, she's been trying to hold hands with every kid she comes across. (Super cute!) She's also been actually trying to play with her cousins. Makes me teary-eyed just thinking about it. 

Maddy's play has been going well in other areas as well. She's started to become interested in dress-up (for short periods of time). She's also been playing with more and more toys as they are intended. The other night, she put the Little People horse in its barn and was playing with the doors that make the horse sounds. She did the same with the cow. (Another tear-filled moment for me on that one.) 

Maddy still has a long ways to go with many things. Talking and/or communicating using signs is still an issue. Feeding herself is still a challenge (with utensils). Sleeping at night is always a struggle. But more and more, it feels like the advancements she is making come faster. I am still hopeful Maddy can overcome many of these challenges. She is only just turning 4 after all. I am also just as certain that Maddy does have a specific disorder or syndrome, we just don't know what it is yet. 

Annual IEP Meeting

*Image Source*

We had Maddy's annual IEP (Indidudual Education Plan for those that don't know what that means) at school the other day. I will admit my feelings on these are mixed. I mentioned to my husband the other day that I feel like I don't even know what she does at school most of the time. Maddy can't tell us what she did that day ( even though I always ask her.) Admittedly, I don't call and talk to the teachers on a regular basis, so some of the fault lays with me.

That being said, the meeting went really well. We had some good feedback on how Maddy is progressing, as well as some honest discussion on things that need to be worked on. Maddy's speech pathologist had notes from many of their sessions. Those were huge for me. Reading over those little notes was a great way to stop and actually look at how far Maddy has progressed so far this year. For example, being able to climb the stairs. At the beginning of the year, Maddy couldn't walk up or down stairs just holding onto someone's hand. She was still crawling up and scooting down. Now Maddy is practically an expert at walking up and down the stairs with one hand on the railing and an adult holding the other hand.

The point is there has been progress. I get caught up sometimes wishing there was more progress, that it would be faster. But Maddy's always marched to the tune of her own drummer. She will not be rushed if she's not ready for something. I wish I could say the same! :)

I do feel the plan this year is good for Maddy. She is already going to ECSE (early childhood special education) classes twice a week for two hours. They are recommending she go to pre-school (or Discovery Time) two other days a week. That means she'll be going to school four days a week. I think that Discovery Time will hopefully help her socialize a bit better with other kids. That's already been seeming to get better and better lately. Time will only tell.

Communication Conundrum

One of the most frustrating issues we face with Maddy is communication. Maddy is essentially non-verbal. The words she does use don't necessarily help us understand her needs and wants. We've tried to get her to use sign language for the basics. Signs for more, milk, please and thank you among them. Until recently, Maddy had no interest in using the signs. We could occasionally get her to use the sign for more, but only with a lot of frustration on everyone's behalf.

We've discussed going the picture route (having pictures of everyday items like a milk cup, etc for Maddy to bring to us or point to when she wants something). I'm not sure how successful that will be, as Maddy can't or won't point at things very often.

In the last month or so, it's like a light bulb has turned on. Maddy has been using the sign for more all the time. It's actually getting to the point that she uses the sign for more for everything, whether she's really asking for more, or just wants something in general. Sometimes I'm not really sure if she's signing or clapping, as she doesn't do the sign exactly the proper way. It's a start.

I can't tell you how frustrating it is to know you're child wants or needs something and not be able to figure out what that something is. Maddy still defaults toward whining to indicate she wants something, but there are times when the sign comes first. I have to admit, those times are pretty rewarding.

The latest communication for Maddy has come in the form of bye bye. She now enthusiastically waves both hands to say bye bye. She also blows kisses. Not without sound effects of course, but it comes out more as boo boo than smacking sounds. Now that she has learned the effect of said kisses, she tries to use them to get her way all the time. Which is adorable. (I might be biased on this one.)


*Here's a link to a great video dictionary for American Sign Language (ASL) if you are interested in learning more about signing.

Maddy's Story

I have a beautiful little girl. Her name is Maddy. She is 3 and a half years old. The time has flown by. It seems like only yesterday we were just bringing her home from the hospital.

She was an angel of a baby, good natured and happy most of the time. She slept through the night at 2 months old. What a miracle.

But by 6 months, things were starting to seem not right. She couldn't quite hold her head up yet. She wasn't able to roll over. She was born an 8 lb baby, but now seemed rather small compared to other 6 month olds. At her 6 month checkup, the doctor confirmed what my mother's intuition had been saying in the back of my mind. Something is not quite right here. Of, course, I had ignored that voice as much as possible. Our family doctor had us go see a pediatrician.

We went to the pediatrician. He sent us to a developmental specialist. And so it began. Over the course of the next several years, we've had tests after test. Maddy has had blood work, MRI's. ABR's, muscle tests, and nerve tests. We've taken Maddy to Gillette Children's as well as the Mayo Clinic. Everything has come back normal so far.

Global Developmental Delay is what they are calling it for now. For those of you that don't know, that simply means "We're not sure what's going on with her." What it means for us is that Maddy has consistently been behind with every milestone in a child's life thus far. She didn't crawl until almost a year. She didn't walk until almost 2 years. She at the age of 3, uses 5 to 7 words consistently. Along with the delays, Maddy has only slept through the night half a dozen times since she turned about a year old.

She gets help from the school in the form of ECE classes, occupational and speech therapy. We have taken her to private OT and speech as well.

While we still don't know if Maddy has a particular disorder or syndrome, she clearly isn't "a typical" child. I am starting this blog because I wanted to share our struggles to get Maddy a diagnosis. Maybe sharing Maddy's story will help us find a diagnosis. Maybe it will help other parents facing similar challenges. Maybe it will help me cope through sharing. Whatever the case may be, I feel Maddy's story must be shared.