September 28, 2012

It's a bad food day

  Sadie seems to have these days where she can't seem to handle her food.  Today is one of those days.  Since she is tube fed her eating patterns are the same everyday.  She gets 5 feeds a day, 3 hours apart, same amount and put in her body at the same speed (it's on a pump), and the same formula.  This does not change.  She can't eat solids yet, so that isn't the issue Why some days this seems to be an issue is beyond me.  The only thing that we (parents, Dr's, and therapists) can come up with is that it could be part of the mito disease, because mito can cause gastrointestinal issues. We think that some days she just has slow gastric emptying.  So we cut her food amount in half and increase the time between feeds (the "back up plan"). As long as we get in the complete amount of calories in a 24 hr period, we are good.
  How do I know the days she can't handle it? She starts dry heaving... over, and over and over.  Since she had the nissin done on her stomach, she can no longer throw up.  So she dry heaves and produces a lot of saliva.  It's so sad to watch.  But at least we know what to do now.  When she first got the nissin done, she would dry heave and we didn't know why. Nobody I talked to seem to have a clue.  So (once again) I was left on my own to figure things out.  One day a light bulb went off above my head that said to try burping her.  Well you can't burp her the same way you do a typical baby.  You have to hook her up to a tube and put a syringe on the end and then she pushes the air out of her belly.  This was our solution.  It worked!  She gagged all the time because she needed to burp.  I was so happy we fixed the problem.  Then it stopped working one day.  And I thought great, now what is the problem.  That's when we discovered that she couldn't handle her food and needed to throw up (she throws up the same way as she burps) and had to come up with the "back up plan".  The back up plan works great.
  Even though we have figured out the problems and I'm thankful that we know what to do for her and have come up with her "back up plan", I wish she just didn't have to go through all this.  It breaks my heart.

On a happier note, it's Chloe's 5th birthday.  She was allowed to get her ears pierced.  No tears, she was so brave.  I seriously can't believe that 5 years ago I became a mom.  It has been the best 5 yrs of my life.  I wish I knew how to put pics on here from my phone.

September 27, 2012

Mitochondrial Disease

 When I was first told that it is a very good possibility that Sadie has a metabolic disease, more specifically a  mitochondrial disorder, I had no idea what to even think, mainly because I really didn't understand what it meant.  So I started my research.  There are so many resources out there, a whole world that I was not aware of (I'm finding many new worlds these days).  So for those of you who are not familiar with this specific "world" here is an idea of what it is like.

Taken from United Mitochondrial Disease Foundation
  "Mitochondrial diseases result from failures of the mitochondria, specialized compartments present in every cell of the body except red blood cells. Mitochondria are responsible for creating more than 90% of the energy needed by the body to sustain life and support growth. When they fail, less and less energy is generated within the cell. Cell injury and even cell death follow. If this process is repeated throughout the body, whole systems begin to fail, and the life of the person in whom this is happening is severely compromised. The disease primarily affects children, but adult onset is becoming more and more common.
  Diseases of the mitochondria appear to cause the most damage to cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems.
  Depending on which cells are affected, symptoms may include loss of motor control, muscle weakness and pain, gastro-intestinal disorders and swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays and susceptibility to infection."

There is no cure for mitochondrial disease. Some helpful treatments include vitamins such as thiamine (B1), riboflavin (B12), vitamin C, and vitamin E. Lipoic acid and coenzyme Q-10 are also useful supplements.Some researchers are examining using drugs to block lactic acid buildup in the body that is common in mitochondrial disease. Others are trying very low carbohydrate diets to reduce the workload for mitochondria.

   So in laymans terms as it was described to me.... "When the cells can't break down the food it creates a sludge.  When the sludge builds up and can't go anywhere, it kills that cell.  When the cells start dying in certain organs, then that organ will eventually die, also. Which obviously leads to death of the person."
  Why, thank you Dr for putting it so nicely to me.  Again, left that Dr's appt in tears.  It seems to be a common theme for Sadie's Dr's appt.

Pontocerebellar Hypoplasia

Many people ask me what exactly PCH is, so I copied this from Genetics Home Reference.

   "Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. People with these conditions have an unusually small and underdeveloped cerebellum, which is the part of the brain that coordinates movement. A region of the brain called the pons also fails to develop properly. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals from the cerebellum to the rest of the brain.
   Researchers have described six forms of pontocerebellar hypoplasia. These forms have somewhat different signs and symptoms and different genetic causes. All forms of this condition are characterized by abnormal brain development, problems with movement, delayed development, and intellectual disability. The signs and symptoms are usually present at birth, and in some cases they can be detected before birth. Many children with pontocerebellar hypoplasia live only into infancy or childhood, although some affected individuals have lived into adulthood.
   The prevalence of pontocerebellar hypoplasia is unknown, although most forms of the disorder appear to be very rare."

We are not exactly sure which form of PCH Sadie has.  She does not fit into any one category and according to her genetics Dr's they do not have the technology to be able to pin point which gene is screwed up.  Sometimes I question that because others seem to know what type their child has, but maybe their child fits more into one category.  Who knows.

September 25, 2012

Just wait and see!

   When I first got pregnant "just wait and see" was such an exciting phrase.  "I just can't wait to see my baby.  I can't wait for my first US.  I just can't wait to see if it is a boy or girl?  I just can't wait to hold her. I can't wait to buy things. I just can't wait for this morning sickness to be over."  There is so much excitement in those few words.  I remember that feeling well.  It's one of the best feelings in the world.
   Then I started to get a gut feeling that something was just not right and unfortunately I was right.  I started to dread US and Dr appt's, just to hear them say something else is wrong with my baby. I also started to dread and HATE the words "just wait and see".  Every appt I was told "we are just not sure, we will have to wait and see what happens after she is born and we can run more tests and see her in person".  Grrrr
   Then after she was born and in the NICU... "just wait and see".  All of her follow up appts... "just wait and see".  Nothing had changed.  Same words, no answers, many more questions.  Those were my most dreaded words in the English language.  If I heard one more person say this to me, I was going to scream!  And that is exactly what happened.
  We went to a follow up Dr's appt when she was about 3 months old and that is when I had a Dr tell me "We will just have to wait and see, but don't expect much from her. She probably will not hit milestones or do much of anything." She went on and on about all the negative things that are going to happen and all the things that are not going to happen.  Finally, I looked at the Dr in tears and said "Stop talking! Do NOT tell me what my child is and is not going to do.  I will push this child just has hard as I push my other 2 girls, until she tells me that she cannot do it and even then I will still gently push her because that is what unconditional love does.  You can now just wait and see what great things she will do."  Then I stormed out.  I sat in my car holding my baby, sobbing so hard I could hardly breath.  But out of that anger came something positive. I decided that "Just wait and see" are my new power words.  I no longer dreaded them.  I will use them to not only push me but to prove all those Dr's wrong.  I know that Dr did not mean to make me cry, I think she honestly thought it was better to be straight forward, which I do appreciate most of the time (just not at that moment in time).  So I do thank her because if it wasn't for that conversation and those tears I probably would still hate and dread those word.
  It's funny how the same words can have so many different meanings and emotions attached to them.  From excited, to scared, to hated, to dreaded, to feared, to empowerment, and actually back around to excited.  Like a full circle.
  So watch out world and JUST WAIT AND SEE cause my little girl is going to amaze you and I am now excited again.