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.