In February 2009, Emily was diagnosed with Niemann-Pick Disease (Type C). This is a degenerative neurological disease that has no cure or treatment. Basically, the cells cannot clear out lipids and basically cease to function once they fill.
To say that this hit us pretty hard is quite the understatement.
For about the last five years, we have been noticing that Emily had not been progressing along like the other children. She had been getting special help with reading starting in 1st grade. At the end of 1st grade, Rockwood School District wanted to test her for possible placement in the Special School District. Unfortunately, she had to have her Adenoids removed on that day, and testing was pushed back to the first months of 2nd grade. At that time she was tested and we were brought in for the IEP (Individual Education Plan) meeting. At this point, many of her shortcomings were brought to our attention. What felt like them "picking her apart" were actually the first signs of the effects of the disease. In January of 2008, she started in the Special School District in a class of 6 children and 3 teachers. Things went better for Emily, as much of the stress of trying to keep up with her classmates was eliminated.
We had seen Doctor after Doctor throughout the years and had numerous test done (including an MRI) and no one could really come up with a reason. Some thought that she was just simply developmentally challenged with a learning disability.
One thing that we though was an odd behavior was that sometimes when she would laugh, she would get "weak-kneed", sometimes to the point of falling down.
It was not until February of 2009 when we insisted on more testing be done on our Emily. She was placed on heart monitor and we had to make here fall down a couple of times & record the times. This was to check her heart rhythms for any abnormalities. This was followed up by an EEG scan to check for seizures. Both tests turned out fine. We got a phone call from the Neurologist to meet him at 4:45 PM that evening, as he had some information for us.
This was when he told us of what he found. Based on the different symptoms that she had and speaking with his colleagues, it was determined that she had Niemann-Pick Type C disease. We must have been in shock, and don't remember much after that. It wasn't until after Emily went to bed and we started in depth research on this did it really sink in. This was February 19th, 2009. The day that our lives changed forever.
A week later, we found that there is one specialist in the US, and he is up at the Mayo Clinic in Rochester, MN. His name is Dr. Marc Patterson. We met with him and he confirmed the diagnosis and ordered a number of tests to be run to verify. This included blood tests (for DNA testing in Niemann-Pick research) and also a skin sample. Dr. Patterson said that he had not seen a child with as many symptoms as Emily. The symptoms include: jaundice at birth, enlarged spleen at 4, hypotonia (low muscle tone), delayed developmental motor milestones, ataxia (clumsy), Vertical Supranuclear Gaze Palsy (inability to move eyes up & down), impaired intellect, Dysarria (slurred speech), dysphagia (difficulty swallowing), gelastic cataplexy (falling when laughing), Dementia, Progressive neurological deterioration and respiratory dysfunction (Croup).
The really bad news about this is that she will slowly (or quickly, we don't know) lose her short term memory, coordination, speech, ability to swallow and ability to walk and eat.
There are some experimental drugs out there, but they only the prolong progress of the disease. Dr. Patterson indicated that testing with these drugs would not be beneficial for her due to her advanced condition. We do also realize that there is special sugar that has been recently approved, but it is still highly experimental for the treatment of Niemann-Pick Type C (NPC).
Most estimates say that the maximum life expectancy is about 14 years. But, this does not take into account any further complications that may arise.
The good news is that she is doing OK right now. Everything she does is a challenge to her, but it is "normal" for her. We are thankful for that. Luckily, she doesn't realize what is happening to her.
As of April 2010, Emily has shown progression in the disease. She has declined quite a bit and continues to decline. She has lost her ability to talk, walk, swallow and eat. She is fed through a feeding tube connected directly to her stomach. She started having seizures in June 2009 and in March 2010 the seizures increased and is now having many seizures a day when she is having a seizure day.
Emily passed away July 1, 2010 from her fight with Niemann-Pick Type C.
We are asking that people pray for all the children that fight the battle of Niemann-Pick Disease.
Emily has some terrific friends! In honor and memory of Emily's 16th birthday, Emily's friends decided to do 16 random acts of kindness. They made this video of the different things they did to honor my precious daughter. I am blessed to have them all remember and love Emily. Amazing!!!!!!