We were finally able to speak with the metabolic/genetics doctor yesterday.  The results of her chromosome test came back, so he was able to share those results with us.  The test itself came back negative.  That sounded very good to us, but upon learning more about how that test works, it turns out that the results just leave more unanswered questions. 

Here is a very simple explanation:  There are many genetic/chromosomal disorders that are characterized and identified.  Sometimes these disorders show up as abnormalities or specific patterns in DNA, sometimes they don’t.  For instance, people that have Disease “X” usually have a chromosome pattern that looks a certain way, so if you find that pattern in someone else’s DNA, then they also have Disease “X”.  However, if a person’s DNA does not match the typical pattern for Disease “X” it’s still possible for them to have Disease “X”.  Haven’s DNA did not match up with any known genetic disorder, so we are unable to know just what genetic disease she has. 

It is apparent that this disease is metabolic (a disease that affects they way your body’s ability to properly process proteins and fats).  It also appears to be somewhat degenerative in nature as over the past four months different organs and body systems have continually worsened.  It is typical for these types of disease to cause multi-system disfunction, and it is quite possible (though unable to be proven) that her original heart defect was actually due to her underlying genetic condition. 

Looking at Haven’s course so far through the glasses of her having a serious metabolic condition also shed’s a light on a theory about her excessive chest drainage that we struggled with for so long.  If Haven’s body can not properly process fats and proteins, then when she receives fats and protein in her nutrition, they go through her system but do not get used in the typical fashion.  When we took samples of her chest drainage and had them analyzed for content, it showed that they were high in fats and proteins.  Since her chest was the place in her body with the least resistance, that’s where all the unprocessed fat and protein settled.  Since Haven had two procedures done so that those fluids could no longer settle in her chest, the fluids had to find some place else to go.  It appears that it started to settle in her abdominal area next.  After her abdominal cavity had been stretched to the max, it began to settle in her tissues.

Metabolic conditions cannot be fixed or reversed, and they range anywhere from mild to severe.  Given the circumstances, Haven’s condition rests more on the severe side as the metabolic treatments that she has been given had no apparent positive effect.  With all of the issues factored in together, the doctors have not given a very good prognosis.  The biggest issue we face right now is her fluid status.  Sunday was the first day she had been negative in fluid in-and-output; however, yesterday she was considerable positive again.  It is uncertain just how many more fluid-positive days her little body will be able to handle.  Knowing that, it appears to us that removing the fluid is of prime importance in giving her the best possible chance to continue fighting through this. 

Our only option with getting fluid off is dialysis.  However, there is no guaruntee that the procedure will work.  It requires a trip to the operating room where a tube would be placed in Haven’s abdominal cavity.  The operation would not be simple as her tissues are very swollen and her skin does not heal well.  Assuming the tube is placed and her skin and tissues would heal properly around the tube, then she would be able to be put on the dialysis machine.  The process for this type of dialysis is this:  an amount of special fluid is pumped into her abdomen through the tube; that fluid then draws to it the fluid from other places in her body; after a little bit of time that fluid and any that has been drawn to it are then removed through the tube.  This process continues until an acceptable amount of fluid is removed. 

Unfortunately, they say, assuming all that above does indeed work as intended, that does not fix the problem.  We know that her kidneys have been damaged severely and are not able to keep up with the amount of fluid her body takes on daily.  However, we also feel that the only way to give her a chance to survive all this is to remove her fluid and give her body a chance to try and handle the fluid without all the excess in her tissues. 

Taking a chance on the dialysis is the more aggressive of our only two apparent options right now.  It appears they may be able to get Haven into the operating room yet sometime today.  Haven is a little fighter and always has been.  We will fight for her as long as there is even a glimmer of hope for her recovery.  We thank God that we have been blessed with such a beautiful little daughter that has not only changed our lives but has touched the lives of many others.  We will keep you posted as we find out more later today.    

Our Apostle Paul reminds us in Philippians 4:19, “But my God shall supply all your need according to his riches in glory by Christ Jesus.”  To really understand this verse, you have to consider what God has already done for us.  The gift of forgiveness of sins through Jesus Christ’s shed blood on the cross that gives us eternal life is more than we ever deserve.  The stength we receive by the Spirit through His Word because of His marvelous grace is more than enough for anyone.  You can read about all the things Paul went through in his life in 2 Corinthians 11:23-28, and still God tells him, “My grace is sufficient for thee: for my strength is made perfect in weakness” (2 Corinthians 12:9).  Thus we understand that we will glorify God through even the tough times in life, for we live for Him and not for ourselves.  

“Most gladly therefore will I rather glory in my infirmities, that the power of Christ may rest upon my.  Therefore, I take pleasure in infirmities, in reproaches, in necessities, in persecutions, in distresses for Christ’s sake: for when I am weak, then am I strong.”  2 Corinthians 12:9