Saturday, March 19, 2011

A phone call and answers.

Yesterday's call came with some answers.
Answers is what we have been waiting for; answers either way.
The not knowing is so much harder than the knowing for me.

Mabel's blood work revealed that her metabolism draw, specifically that relating to her amino acids were abnormal. On Tuesday we will head back over to the neurologist so they can collect more urine and do another draw in order to send it away for more extensive tests. They will be sending them to the Mayo Clinic hopefully for rapid results.

For those of you who may not know I'll do my best to explain what some of this may mean.
Amino acids, protein, enzymes--they are all part of the system that makes our body do what it is supposed to do. We are incredibly complex beings.
Amino acids are nutrients which represent the source of life. Proteins which constitute the body are made up of 20 different kinds of amino acids. That is why this could be very complicated.
Amino acids play a big part in many things such as the tasting of food and growth.

The nurse on the phone said that she would be printing out more information for us on Tuesday and filling us in on some more of the details. Basically they will be picking apart Mabel's body very in depth in order to find the specific medical issue that could be happening. The nurse made sure to encourage us to still go forward with seeing the geneticist, as this is not an indicator that she may or may not have a syndrome. It could simply be coupled with a syndrome or this may be the only solo issue. She did say this could account for Mabel's delays and even her seizures.

Most of the research that I have been doing leads me to believe that often, if caught soon enough, the mental delays can be reversible when this is the cause. Sometimes, however, the delays are lasting and the effects cannot be improved. We believe that God is already doing a work in Mabel! We know that we have done everything humanly possible to pinpoint her delays as early as we could have. Therefore, we are praying that with early detection and diagnosis, she will be spared from a lifetime of side effects from whatever could be happening inside of her little body.

We will be having an EEG on Tuesday in order to get results concerning her seizures. Dr. K will hopefully be aggressive with us in starting a treatment plan regardless of what the EEG results may be because we are positive that she is having them daily.

Medically speaking, I am so thankful that we are getting somewhere. Getting answers means that we are able to move forward with the next step in helping Mabel.
Emotionally speaking, I am unsure of how I'm feeling. It comes in waves of emotions. For instance, knowing that this is something that can possibly be treated is encouraging-only we weren't told that at all, so I'm still unsure. The thought excites me but the diseases that are linked to this sort of abnormal screening are devastating as well.
It's still all so scary and unknown.

I feel like that for months everyone has encouraged me by saying "She is healthy, Ramee, she just has some delays. She'll be ok." And that was true.
Until yesterday. I feel like with that phone call came news that made me realize that something inside of Mabel's body is medically off. It's not how it's supposed to be. It's not just a delay. It's something more than that and not having all the facts and information is frustrating.
I am at a place though, where I feel thankful that we are finally moving forward. Now that we know that something is actually causing these problems in Mabel, we can take the steps that are necessary to fix it. We will see the right Dr's, get the right information, and hopefully help our little girl-Finally.

Please continue to pray. Thank you for your encouraging emails and kind words. Honestly, it means so much to me knowing that I have such great support. We are not dwelling on Mabel's delays constantly although it is on my mind a majority of the time. I am trying desperately to live in this moment and learn the lessons that I know God is allowing me to learn. We have come so far and grown so close to one another and the Lord during this time. I am forever grateful for that. And I am thankful for this little girl who is more than worth it. She is my precious gift and from the first day I saw her, "there's just something about Mabel," was something I proclaimed to everyone. How true that was and still is.
There's just something about our girl.
A mystery indeed.

But not to our God and not to my heart.
To Him she is perfect and not complex at all.
And to this heart, she is the beat.
So we press on, hoping that we are honoring God in the meantime.
And thankful that you're sharing our journey with us.
We love you & will continue to keep you updated.

For now, if you're wanting to pray specifically, here is what you can pray for:
--Continued Answers.
--Consistent Blood Draws and no more confusion.
--Peace & Strength for our family.
--Decrease in Mabel's seizures.
--Wisdom for our Dr's.
--A specific diagnosis.
--A complete miracle and that God would receive ALL the glory through Mabel!!!


Ashleigh said...

I am so glad that you are getting some answers Ramee. Your family, and above all, your sweet little girl, will be in my prayers.

Jessica Kramasz said...

I'm so thankful for some answers. I will continue to pray.

Verena said...

Hey Ramee...Mabel is so lucky to have such a supportive are doing such a good job and you are a wonderful mom. And even if the results are not that positive...she is a happy and lucky little girl and she will make her way.