It's the small stuff

We are learning to appreciate the small things around here!  This past week with our therapists has been an eye opener for me.  I was in my own little bubble of frustration over Madi and her progress.  It seems abysmally slow to me.  However, both therapists remarked on how well she is doing and how far she has come.  This made me think back to when we started therapy and how little she could do to entertain herself or move around. 

When we started therapy, her hands were often fisted and she only played with and grabbed a toy after it was put in her hands.  She now reaches for things that catch her interest.  She will grasp them and put them in her mouth.  The biggest change I have noticed is that I rarely see her hands fisted! 

At six months she was just starting to roll, but often couldn’t get back onto her back because she had trouble positioning her hands to help her.  Now she is all over the floor.  She can even play with toys while on her belly.  It’s amazing to see how well she can move her arms now.  She doesn’t purposefully roll to get something she wants, but it is only a matter of time before she puts 2 and 2 together.

The other big thing I have noticed is that with the ability and desire to reach and grasp, she can now entertain herself for short periods!  How amazing it is to have five minutes to run and switch the laundry or put it away without listening to her scream at the top of her lungs.

Just this week she finally was able to get her feet to her mouth.  It was an exciting moment to see her do this.  This is such a big thing for her because it involves so much.  She has to be completely relaxed in her back, have strength in her abdomen to pull her legs up, and be relaxed in her legs so that she can bend her knees grab her foot with her hands and put her toes in her mouth.  It’s not an easy task, but she is getting the idea.

There are so many other little things that she is able to do, I could probably write a small book.  I just need to focus on what she can do and quit focusing on what she can’t.  The little things lead to the big things!  

Sharing with our girls

A few days after our visit with the neurologist we decided that we needed to tell the girls about Madi.  We were concerned about when to tell them and then how much information we should give them.  With school starting soon it seemed like a good time to let them in, at least a little, on what we know so far.

It seemed best to just give the girls a little bit of information and then let them ask questions.  We wanted them to understand that Madi will progress and reach milestones at her own pace and that they shouldn't compare her to other babies her age.

Telling Alex separately from the younger girls seemed like the best approach.  We knew she would ask some hard questions and have a better understanding of how this can affect Madi.  And man did she have some hard questions.  She wanted to know if Madi would have to be in a wheelchair.  We told her we didn't know.  She wanted to know if Madi would be able to learn like she and her sisters do.  We told her we didn't know that as well, but she was meeting those benchmarks at the moment.  She also asked if she would be able to speak.  AGAIN we had to tell her we didn't know.  It breaks your heart to see your eleven year old cry and realize how much this is to take in at her age. 

We waited a couple days and then told the middle three girls while we were eating dinner.  They didn't really have any questions.  I don't know exactly how much they understand, but they seemed to take it in stride.

We chose not to tell them about her cerebellum, we didn't see how it would benefit them to know this.  All they really need to understand at this stage is that it will take Madi longer to learn some things and other things she may not be able to do.

I feel a little bit of relief now that they know.  When people come up and ask me questions or want to know how things are I don't freak out or worry about the girls overhearing.

Right now, we are just taking things one day at a time.  We continue to do physical and occupational therapy once a week.  I am so relieved that we will soon be getting into a "normal" routine, whatever that looks like!   It has become apparent that any new information regarding Madi is going to be slow. We won't know anything new until after the holidays when the test results are in. 

Below is a video of Madi rolling.  It's amazing to look at her.  This video was taken a month ago.  She is now a rolling machine.  She continues to push herself to be able to do things.  Contrary to what our research says she is making strides in her motor and cognitive development.

Traveling without a road map!

Madi’s neurology appointment on Saturday went better than we expected, however we left the office with more questions than answers.

Madi has a clinical diagnosis of pontocerebellar hypoplasia (PCH). This diagnosis is based on the results of the MRI.

After examining Madi, the doctor told us that she is doing very well. He has two other patients with PCH and she is more advanced in her mental and motor skills than either patient. It was odd to note that both of those kids had more developed cerebellums, but had more complications. He reassured us that from his experience, trouble swallowing and respiratory issues associated with this disease are usually present from birth and are not something that would develop later. He couldn’t guarantee this obviously, since so much is unknown, but he felt comfortable that this would not arise later.

He went on to explain that the initial genetic test of her chromosomes came back normal (that she had the correct number and that none were duplicates or "broken"). Now, we are waiting for more specific tests on the genes within the chromosomes known to be associated with this disorder to figure out which type she has. We start with one test and if it comes back negative move onto the next one. There is the possibility that all the tests could come back negative. She may be a type that hasn’t been recorded before. The results could take up to six months and at that time we will meet with a geneticist to discuss them and see where we need to go from there.

For now, we are to continue with things as they are. We will continue to have occupational and physical therapy once a week. He also saw no reason why she couldn’t have corrective eye surgery, so we will probably have that done late this summer or in the early fall. Thankfully, Jessi had this surgery when she was seven months old, so we already know what this entails.

Butch and I were both relieved after this doctor’s appointment and have a thousand more questions. At the moment, we seem to be in no man’s land. The doctor said there is no clear-cut map. We will take things one-step at a time and deal with things as they come up. Our rehabilitation specialist is coordinating all these doctors and tests and the neurologist felt that he was on top of everything and had a good plan for now.

As a control freak, I would really prefer a road map, but that will not be the case. We continue to be thankful for every day we have with Madi and are grateful for all the things that she can do. I hope we can continue to shock and surprise doctors with her abilities and that she continually exceeds their expectations.

Thank you all for your kind words and prayers. They are helping!

Doctor Visit Update

I had informed the wife that I had sent the link to her blog to a few of my friends and that she should update it.  She informed me, in only a way a loving spouse can, that maybe I should do it myself.   Since she was very eloquent in her directive - here goes.

We met with the developmental doctor on Friday the 6th and he explained to us in further detail what he saw on Madi's MRI and how he came to his conclusion.  Below is an image taken from the MRI. 

Here is an image of what a normal brain (I hesitate to use that word because I know a lot of people that  have a fully developed brain but would not consider them normal) would look like.

The cerebellum in Madi is severely underdeveloped.  It looks like a piece of string.  The pons is also not as pronounced as it should be.  Note: the gray matter on top is there, but this was the best image I could find that showed the pons and cerebellum clearly together.

Those two characteristics are what led the doctor to his diagnosis - Pontocerebellar hypoplasia.
Hypoplasia by definition is the underdevelopment of an organ.  He was very surprised when he saw this, because she's not as impaired as the images alone would lead you to believe.   Her occupational therapist was equally surprised at her diagnosis due to the fact that Madi has made good progress in her therapy.

We continue to work with her everyday and count each time we are able to do so as a blessing.

Bad News

Last week we had our MRI, which was not a pleasant process.  Thankfully, they let me hold Madi until she fell asleep.  However, as soon as they laid her on the MRI table, she woke up and they had to give her a long lasting sedative that she didn’t tolerate very well.  She won’t be using the same medicine if she has to be sedated again.

Now, the difficult part.  The RESULTS.  Well, they aren’t good; in fact, I don’t think that I could have imagined anything worse.  The doctor called us today and informed us that the news was “bad”.  Hmm, I don’t think anyone wants to hear that after their baby has an MRI done of their brain!  He then informs us that her cerebellum and her brainstem are small and/or underdeveloped.   I didn’t process very well after “the news is bad”.  He throws around some medical jargon, which at this point I couldn’t even follow!  He says he is out of his depth and we need to see a neurologist.  He believes she has pontocerebellar hypoplasia.

Pontocerebellar hypoplasia, well we definitely should have followed his advice when he said NOT to google it, and wait until we saw the neurologist!  Nothing you read about this genetic disorder is good.  I can’t even type it.  I am just freezing up.

We won’t know anything for sure until we have seen the neurologist, and I assume have some genetic testing done.

We are trying to stay positive. 

Honestly, I am a freaking mess, but I am also the mother of five.  I don’t have time to freak out, I don’t want the girls to suspect how bad it is or could be.  So, I am holding it together for now, we can’t get in to see the neurologist until the 21^st of this month.  I am going to do my best to trust God.  As a good friend reminded me, He is in control.   

Thank you everyone for your thoughts and prayers.  So many of you have sent very kind and sweet messages, and while I haven’t responded to all of them, I truly appreciate them.

Madi, bright eyed and estatic that she and Mommy are up at 4:30 a.m. getting ready for her MRI.  And mommy, well, yep folks, mommy looks like she just crawled out of bed.

After two sticks we finally have our IV in, just snuggling with mom and waiting for the meds to put her to sleep.

Just enough

Today we are TIRED.  There was a storm overnight, so we had a three year old in our bed.  A baby that didn’t want to sleep after 3 am, and an 8-year-old type 1 diabetic that got sick in the middle of the night because her blood sugar spiked and she had ketones.

This morning I did not want to be up, but we had a lot to do.  As the mother of five, and what will likely be two kids who require some sort of special care, it seems that we are always hopping from one place to another.  Our oldest daughter left this morning for 4H camp, so we were scrambling trying to get everyone out the door and from there we had to head straight to swim lessons!

I kept thinking today how tired I am and how badly I want to lie down, fall asleep, and wake up when I am ready, not when someone else is screaming or demanding my attention.  I kept finding myself looking forward to bedtime, when the house is quiet and all the kids are asleep, and I can rest and wondering if I will make it till then.

That’s when I realized that each and every time that I have felt like I have reached the end of my patience God gives me just enough to make it through.  When I feel I am just too tired to calm a fussy baby, get Dani a snack, or just give a hug to Jessi because she needs it, He has given me just enough to make it through that moment.  He gives me the calm I need to love on my baby, and the strength I need to get up one more time. 

I am so thankful that God gave me these kids and that He continues to supply me with everything I need so that I can love on them and be the mom that they need.

A Start

First off, if you are reading this please note that I am a TERRIBLE writer and this may annoy you, so if bad grammar or bad writing bother you in any way I suggest that you quit reading this right now.

I suppose I decided to start this whole blog thing so that I could vent.  I have a lot of pent up frustration and I need somewhere to channel it.  I hope that by writing about it I can relieve some of my stress and share what we know about Madi without having to answer one thousand and one questions.  So, here goes…

I realized the moment I brought Madi home that she seemed tense and tight in her arms, but I also knew that I was worried something would be wrong with her.  I had surgery before I knew I was pregnant and worried that the anesthesia or drugs would affect the baby.  (Nothing major just a kidney stone removal, though on a side note, I do NOT recommend kidney stones.  They hurt like; well you know where I am going with this one!)  So, I brushed aside any worries I had at the time and enjoyed that bundle of joy.  It wasn’t until her sixth month well child check that I brought it to the doctors attention.

At her visit, I learned she is going to be a shrimp; the poor child is in the 5^th percentile for weight and only the 2^nd percentile for height.  Thank goodness she is a girl!  I also learned at this visit that she was “developmentally delayed” which meant she is a little behind in reaching some of those infant milestones.   I wasn’t concerned, she is the youngest of five, so I have learned that every child advances and learns at their own rate.  She also has strabismus in her left eye, it turns in and her eyes don’t track together.  Our third daughter had strabismus, so we have also dealt with that before.  However, after I got home I began to think back over the visit and how instantly alert the doctor became after I pointed out her stiffness and the fact that he came back into the room to ask if I had any questions or concerns over any of the things we had discussed.

Since that visit almost two months ago, we have seen more specialists and I now know that Madi is hypertonic.  Something in her brain causes her muscles to stiffen and tighten.  We have scheduled an MRI for the 29^th and hopefully, it will give us a better idea why she is hypertonic and what if any other issues she may face.

Well, I do surprisingly feel better!  J